##fileformat=VCFv4.1 ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##reference=file:///gpfs/gpfs1/myerslab/reference/genomes/bwa-0.7.8/GRCh37.fa ##SnpEffVersion="4.3t (build 2017-11-24 10:18), by Pablo Cingolani" ##SnpEffCmd="SnpEff -i VCF -o VCF -noLof -noHgvs -formatEff -classic GRCh37.75 /data/markellocj/UDP_PEDIGREE_EXPERIMENT_1/Appendix.vcf " ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT proband1 proband2 proband3 proband4 proband5 proband6 proband7 proband8 proband9 proband10 proband11 proband12 proband13 proband14 proband15 proband16 proband17 proband18 proband19 proband20 proband21 proband22 proband23 proband24 proband25 proband26 proband27 proband28 proband29 proband30 proband31 proband32 proband33 proband34 proband35 proband36 proband37 proband38 proband39 proband40 proband41 proband42 proband43 proband44 proband45 proband46 proband47 proband48 proband49 proband50 proband51 proband52 proband53 proband54 proband55 proband56 proband57 proband58 proband59 proband60 proband61 proband62 proband63 proband64 proband65 proband66 proband67 proband68 proband69 proband70 proband71 proband72 proband73 proband74 proband75 proband76 proband77 proband78 proband79 proband80 proband81 proband82 proband83 proband84 proband85 proband86 proband87 proband88 proband89 proband90 proband91 proband92 proband93 proband94 proband95 proband96 proband97 Sibling 1A Sibling 1B Sibling 2A Sibling 2B Sibling 3A Sibling 3B Sibling 4A Sibling 4B Sibling 5A Sibling 5B Sibling 6A Sibling 7A Sibling 8A Sibling 9A Sibling 10A Sibling 11A Sibling 12A Sibling 13A Sibling 14A Sibling 15A Sibling 16A Sibling 17A Sibling 18A Sibling 19A Sibling 20A Sibling 21A Sibling 22A Sibling 22B Sibling 23A Sibling 23B Sibling 24A Sibling 25A Sibling 26A Sibling 27A Sibling 28A Sibling 29A Sibling 30A Sibling 31A Sibling 32A Sibling 33A Sibling 34A Sibling 35A Sibling 36A Sibling 37A Sibling 38A Sibling 39A Sibling 40A Sibling 41A Sibling 42A Sibling 43A Sibling 44A Sibling 45A Sibling 46A Sibling 47A Sibling 48A Sibling 48B Sibling 49A Sibling 50A Sibling 51A Sibling 52A Sibling 53A Sibling 54A Sibling 55A Sibling 56A Sibling 57A Sibling 58A Sibling 59A Sibling 60A Sibling 61A Sibling 62A Sibling 63A Sibling 64A Sibling 65A Sibling 66A Sibling 67A Sibling 68A Sibling 69A Sibling 70A Sibling 71A Sibling 72A Sibling 73A Sibling 74A Sibling 74B Sibling 75A Sibling 75B Sibling 76A Sibling 76B Sibling 77A Sibling 77B Sibling 78A Sibling 78B Sibling 79A Sibling 79B Sibling 80A Sibling 80B Sibling 81A Sibling 81B Sibling 82A Sibling 83A Sibling 84A Sibling 85A Sibling 86A Sibling 87A Sibling 88A Sibling 89A Sibling 90A Sibling 91A Sibling 92A Sibling 93A Sibling 94A Sibling 95A Sibling 96A Sibling 97A 1 162557419 Proband 1 A G . . Gene=UAP1;MT=SNP;MM=HR;CADD=24.1;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||522|UAP1|protein_coding|CODING||6|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||505|UAP1|protein_coding|CODING||6|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||521|UAP1|protein_coding|CODING||5|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||522|UAP1|protein_coding|CODING||5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N330S|522|UAP1|protein_coding|CODING|ENST00000271469|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N330S|505|UAP1|protein_coding|CODING|ENST00000367926|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N330S|521|UAP1|protein_coding|CODING|ENST00000367924|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N330S|522|UAP1|protein_coding|CODING|ENST00000367925|5|G),EXON(MODIFIER|||||UAP1|retained_intron|CODING|ENST00000474728|2|G) GT 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2226351 Proband 1 G A . . Gene=TRAF7;MT=SNP;MM=DN;CADD=24.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R655Q|670|TRAF7|protein_coding|CODING|ENST00000326181|20|A),DOWNSTREAM(MODIFIER||833||1431|CASKIN1|protein_coding|CODING|ENST00000343516||A),DOWNSTREAM(MODIFIER||4968|||TRAF7|retained_intron|CODING|ENST00000569686||A),DOWNSTREAM(MODIFIER||3761||54|TRAF7|nonsense_mediated_decay|CODING|ENST00000564067||A),DOWNSTREAM(MODIFIER||4994||146|TRAF7|protein_coding|CODING|ENST00000567645||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1131|||TRAF7|retained_intron|CODING|ENST00000570169||A) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 139006301 Proband 1 C G . . Gene=MIR505;MT=SNP;MM=XL;CADD=20.4;VMM=0;EFF=DOWNSTREAM(MODIFIER||6|||MIR505|miRNA|NON_CODING|ENST00000384901||G),INTRON(MODIFIER||||1113|ATP11C|protein_coding|CODING|ENST00000370557|1|G),INTRON(MODIFIER|||||ATP11C|processed_transcript|CODING|ENST00000485626|1|G) GT 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 428616 Proband 1 C T . . Gene=DIP2C;MT=SNP;MM=CM;CADD=17.48;VMM=34.14;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S654|1556|DIP2C|protein_coding|CODING|ENST00000280886|17|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S547|656|DIP2C|protein_coding|CODING|ENST00000381496|18|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S121|230|DIP2C|protein_coding|CODING|ENST00000421992|4|T|WARNING_TRANSCRIPT_NO_START_CODON) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 430544 Proband 1 C T . . Gene=DIP2C;MT=SNP;MM=CM;CADD=17.22;VMM=34.14;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P566|1556|DIP2C|protein_coding|CODING|ENST00000280886|15|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P459|656|DIP2C|protein_coding|CODING|ENST00000381496|16|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P33|230|DIP2C|protein_coding|CODING|ENST00000421992|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 73453990 Proband 1 C T . . Gene=CDH23;MT=SNP;MM=CM;CADD=23.3;VMM=76.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H760Y|3359|CDH23|protein_coding|CODING|ENST00000224721|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H800Y|1106|CDH23|protein_coding|CODING|ENST00000299366|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H565Y|953|CDH23|protein_coding|CODING|ENST00000466757|15|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H346Y|802|CDH23|protein_coding|CODING|ENST00000442677|9|T|WARNING_TRANSCRIPT_NO_START_CODON) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 73491923 Proband 1 G A . . Gene=CDH23;MT=SNP;MM=CM;CADD=25;VMM=76.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1304I|3359|CDH23|protein_coding|CODING|ENST00000224721|31|A),INTRON(MODIFIER||||133|C10orf105|protein_coding|CODING|ENST00000398786|1|A),EXON(MODIFIER|||||CDH23|processed_transcript|CODING|ENST00000398792|4|A) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57548173 Proband 1 T G . . Gene=LRP1;MT=SNP;MM=CM;CADD=16.3;VMM=50.53;EFF=NEXT_PROT[repeat:LDL-receptor_class_B_2](LOW||||4544|LRP1|protein_coding|CODING||7|G),DOWNSTREAM(MODIFIER||4331||296|LRP1|protein_coding|CODING|ENST00000553277||G),DOWNSTREAM(MODIFIER||4331||292|LRP1|protein_coding|CODING|ENST00000338962||G),INTRON(MODIFIER||||4544|LRP1|protein_coding|CODING|ENST00000243077|7|G),INTRON(MODIFIER||||439|LRP1|protein_coding|CODING|ENST00000554174|7|G) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57602950 Proband 1 C G . . Gene=LRP1;MT=SNP;MM=CM;CADD=26.1;VMM=50.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T4077R|4544|LRP1|protein_coding|CODING|ENST00000243077|79|G),DOWNSTREAM(MODIFIER||3382|||LRP1|retained_intron|CODING|ENST00000451724||G),EXON(MODIFIER|||||LRP1|retained_intron|CODING|ENST00000556356|7|G) GT 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 49508963 Proband 2 GA G . . Gene=ADNP;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||tcc/|S763|1102|ADNP|protein_coding|CODING|ENST00000349014|4|G),FRAME_SHIFT(HIGH||tcc/|S763|1102|ADNP|protein_coding|CODING|ENST00000371602|3|G),FRAME_SHIFT(HIGH||tcc/|S763|1102|ADNP|protein_coding|CODING|ENST00000396029|5|G),FRAME_SHIFT(HIGH||tcc/|S763|1102|ADNP|protein_coding|CODING|ENST00000396032|4|G),DOWNSTREAM(MODIFIER||1769||171|ADNP|protein_coding|CODING|ENST00000534467||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 56329935 Proband 2 G A . . Gene=CLOCK;MT=SNP;MM=DN;CADD=29.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P159L|846|CLOCK|protein_coding|CODING|ENST00000309964|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P159L|846|CLOCK|protein_coding|CODING|ENST00000381322|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P159L|846|CLOCK|protein_coding|CODING|ENST00000513440|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P159L|181|CLOCK|protein_coding|CODING|ENST00000435527|8|A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||CLOCK|retained_intron|CODING|ENST00000506747|8|A) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 92533041 Proband 2 G A . . Gene=FAT3;MT=SNP;MM=CM;CADD=12.76;VMM=44.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2288N|4589|FAT3|protein_coding|CODING|ENST00000298047|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2288N|4557|FAT3|protein_coding|CODING|ENST00000409404|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2138N|4439|FAT3|protein_coding|CODING|ENST00000525166|9|A),NEXT_PROT[domain:Cadherin_21](LOW||||4557|FAT3|protein_coding|CODING||9|A) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 92570856 Proband 2 G T . . Gene=FAT3;MT=SNP;MM=CM;CADD=31;VMM=44.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A3418S|4589|FAT3|protein_coding|CODING|ENST00000298047|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A3418S|4557|FAT3|protein_coding|CODING|ENST00000409404|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A3268S|4439|FAT3|protein_coding|CODING|ENST00000525166|16|T) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 7055280 Proband 2 C T . . Gene=PTPN6;MT=SNP;MM=CM;CADD=9.36;VMM=30.24;EFF=UPSTREAM(MODIFIER||1513|||U47924.31|antisense|NON_CODING|ENST00000607421||T),UPSTREAM(MODIFIER||351||129|PTPN6|protein_coding|CODING|ENST00000543115||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||457||58|PTPN6|nonsense_mediated_decay|CODING|ENST00000542848||T),UPSTREAM(MODIFIER||460|||PTPN6|processed_transcript|CODING|ENST00000543120||T),UPSTREAM(MODIFIER||460||597|PTPN6|protein_coding|CODING|ENST00000399448||T),UPSTREAM(MODIFIER||493|||PTPN6|processed_transcript|CODING|ENST00000534900||T),UPSTREAM(MODIFIER||493||556|PTPN6|protein_coding|CODING|ENST00000447931||T),UPSTREAM(MODIFIER||593|||PTPN6|retained_intron|CODING|ENST00000538318||T),DOWNSTREAM(MODIFIER||3796||1190|ATN1|protein_coding|CODING|ENST00000356654||T),DOWNSTREAM(MODIFIER||2239|||RNU7-1|snRNA|NON_CODING|ENST00000458811||T),DOWNSTREAM(MODIFIER||115||126|C12orf57|protein_coding|CODING|ENST00000229281||T),DOWNSTREAM(MODIFIER||3854||1190|ATN1|protein_coding|CODING|ENST00000396684||T),DOWNSTREAM(MODIFIER||4060|||ATN1|retained_intron|CODING|ENST00000537488||T),DOWNSTREAM(MODIFIER||1051|||C12orf57|retained_intron|CODING|ENST00000538392||T),DOWNSTREAM(MODIFIER||114|||C12orf57|processed_transcript|CODING|ENST00000542222||T),DOWNSTREAM(MODIFIER||196||125|C12orf57|protein_coding|CODING|ENST00000545581||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1019||103|C12orf57|protein_coding|CODING|ENST00000544681||T),DOWNSTREAM(MODIFIER||115||97|C12orf57|protein_coding|CODING|ENST00000537087||T),DOWNSTREAM(MODIFIER||121||91|C12orf57|protein_coding|CODING|ENST00000540506||T),INTERGENIC(MODIFIER||||||||||T) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 7067226 Proband 2 G A . . Gene=PTPN6;MT=SNP;MM=CM;CADD=32;VMM=30.24;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||624|PTPN6|protein_coding|CODING||11|A),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||595|PTPN6|protein_coding|CODING||11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V451M|624|PTPN6|protein_coding|CODING|ENST00000456013|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V453M|597|PTPN6|protein_coding|CODING|ENST00000399448|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V412M|556|PTPN6|protein_coding|CODING|ENST00000447931|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V451M|595|PTPN6|protein_coding|CODING|ENST00000318974|11|A),UPSTREAM(MODIFIER||1259|||PTPN6|processed_transcript|CODING|ENST00000539029||A),UPSTREAM(MODIFIER||1350|||PTPN6|retained_intron|CODING|ENST00000542761||A),UPSTREAM(MODIFIER||1513|||PTPN6|processed_transcript|CODING|ENST00000537533||A),DOWNSTREAM(MODIFIER||2801||58|PTPN6|nonsense_mediated_decay|CODING|ENST00000542848||A),DOWNSTREAM(MODIFIER||3124|||PTPN6|processed_transcript|CODING|ENST00000543120||A),DOWNSTREAM(MODIFIER||2890|||PTPN6|processed_transcript|CODING|ENST00000534900||A),DOWNSTREAM(MODIFIER||2796|||PTPN6|retained_intron|CODING|ENST00000538318||A),DOWNSTREAM(MODIFIER||3090||164|PTPN6|protein_coding|CODING|ENST00000538715||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4648|||PTPN6|retained_intron|CODING|ENST00000543744||A),DOWNSTREAM(MODIFIER||3216|||PTPN6|processed_transcript|CODING|ENST00000540740||A),DOWNSTREAM(MODIFIER||2578||72|PTPN6|nonsense_mediated_decay|CODING|ENST00000545153||A),DOWNSTREAM(MODIFIER||3148||60|PTPN6|nonsense_mediated_decay|CODING|ENST00000535462||A),DOWNSTREAM(MODIFIER||2877||149|PTPN6|protein_coding|CODING|ENST00000541698||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2874||143|PTPN6|protein_coding|CODING|ENST00000542462||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4462|||PTPN6|processed_transcript|CODING|ENST00000542277||A),DOWNSTREAM(MODIFIER||2669||56|PTPN6|nonsense_mediated_decay|CODING|ENST00000536013||A),DOWNSTREAM(MODIFIER||2578|||PTPN6|retained_intron|CODING|ENST00000539365||A),EXON(MODIFIER|||||PTPN6|retained_intron|CODING|ENST00000416215|10|A) GT ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 63444271 Proband 3 T C . . Gene=ASB12,MTMR8;MT=SNP;MM=XL;CADD=22.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I301V|318|ASB12|protein_coding|CODING|ENST00000362002|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I292V|309|ASB12|protein_coding|CODING|ENST00000396130|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I676V|693|MTMR8|protein_coding|CODING|ENST00000453546|11|C) GT ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 57067299 Proband 3 G A . . Gene=TNKS1BP1;MT=SNP;MM=CM;CADD=13.33;VMM=50.16;EFF=UTR_3_PRIME(MODIFIER||715||1729|TNKS1BP1|protein_coding|CODING|ENST00000358252|12|A),UTR_3_PRIME(MODIFIER||20250||243|TNKS1BP1|nonsense_mediated_decay|CODING|ENST00000528882|7|A),UTR_3_PRIME(MODIFIER||715||1729|TNKS1BP1|protein_coding|CODING|ENST00000532437|11|A),EXON(MODIFIER|||||TNKS1BP1|retained_intron|CODING|ENST00000532273|2|A),EXON(MODIFIER|||||TNKS1BP1|retained_intron|CODING|ENST00000427750|6|A) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 57087817 Proband 3 C T . . Gene=TNKS1BP1;MT=SNP;MM=CM;CADD=33;VMM=50.16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R155H|1729|TNKS1BP1|protein_coding|CODING|ENST00000358252|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R155H|243|TNKS1BP1|nonsense_mediated_decay|CODING|ENST00000528882|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R155H|1729|TNKS1BP1|protein_coding|CODING|ENST00000532437|2|T),DOWNSTREAM(MODIFIER||34||142|TNKS1BP1|protein_coding|CODING|ENST00000527207||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 27401593 Proband 3 C G . . Gene=MYO18A;MT=SNP;MM=CM;CADD=13.88;VMM=30.09;EFF=UTR_5_PRIME(MODIFIER||376||115|TIAF1|protein_coding|CODING|ENST00000359450|1|G),UTR_5_PRIME(MODIFIER||376||115|TIAF1|protein_coding|CODING|ENST00000408971|8|G),UTR_3_PRIME(MODIFIER||195||2054|MYO18A|protein_coding|CODING|ENST00000354329|41|G),UTR_3_PRIME(MODIFIER||195||2002|MYO18A|protein_coding|CODING|ENST00000533112|40|G),UTR_3_PRIME(MODIFIER||195||2039|MYO18A|protein_coding|CODING|ENST00000531253|41|G),UTR_3_PRIME(MODIFIER||195||2054|MYO18A|protein_coding|CODING|ENST00000527372|42|G),UTR_3_PRIME(MODIFIER||62468||26|MYO18A|nonsense_mediated_decay|CODING|ENST00000530254|41|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||173|||MYO18A|processed_transcript|CODING|ENST00000532867||G),DOWNSTREAM(MODIFIER||254|||MYO18A|retained_intron|CODING|ENST00000527312||G),DOWNSTREAM(MODIFIER||284|||MYO18A|retained_intron|CODING|ENST00000531438||G),EXON(MODIFIER|||||MYO18A|processed_transcript|CODING|ENST00000529578|8|G),EXON(MODIFIER|||||MYO18A|processed_transcript|CODING|ENST00000546105|8|G) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 27418396 Proband 3 C T . . Gene=MYO18A;MT=SNP;MM=CM;CADD=19.56;VMM=30.09;EFF=UTR_5_PRIME(MODIFIER||17179||115|TIAF1|protein_coding|CODING|ENST00000408971|1|T),UPSTREAM(MODIFIER||4577|||MYO18A|retained_intron|CODING|ENST00000527312||T),UPSTREAM(MODIFIER||1218|||MYO18A|retained_intron|CODING|ENST00000531438||T),UPSTREAM(MODIFIER||543|||MYO18A|processed_transcript|CODING|ENST00000531892||T),UPSTREAM(MODIFIER||285|||MYO18A|retained_intron|CODING|ENST00000529889||T),DOWNSTREAM(MODIFIER||2603|||MYO18A|retained_intron|CODING|ENST00000530557||T),DOWNSTREAM(MODIFIER||2865|||MYO18A|retained_intron|CODING|ENST00000533652||T),INTRON(MODIFIER||||2054|MYO18A|protein_coding|CODING|ENST00000354329|33|T),INTRON(MODIFIER||||2002|MYO18A|protein_coding|CODING|ENST00000533112|33|T),INTRON(MODIFIER||||2039|MYO18A|protein_coding|CODING|ENST00000531253|34|T),INTRON(MODIFIER||||2054|MYO18A|protein_coding|CODING|ENST00000527372|34|T),INTRON(MODIFIER||||26|MYO18A|nonsense_mediated_decay|CODING|ENST00000530254|34|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||MYO18A|processed_transcript|CODING|ENST00000546105|1|T),EXON(MODIFIER|||||MYO18A|processed_transcript|CODING|ENST00000529578|1|T) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 42166936 Proband 3 C T . . Gene=TRAK1;MT=SNP;MM=CM;CADD=30;VMM=44.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P39L|953|TRAK1|protein_coding|CODING|ENST00000327628|2|T),EXON(MODIFIER|||||TRAK1|processed_transcript|CODING|ENST00000487159|3|T),EXON(MODIFIER|||||TRAK1|processed_transcript|CODING|ENST00000484786|2|T) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 42251498 Proband 3 G C . . Gene=TRAK1;MT=SNP;MM=CM;CADD=13.19;VMM=44.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V604L|686|TRAK1|protein_coding|CODING|ENST00000341421|13|C),INTRON(MODIFIER||||953|TRAK1|protein_coding|CODING|ENST00000327628|14|C),INTRON(MODIFIER|||||TRAK1|processed_transcript|CODING|ENST00000487159|15|C),INTRON(MODIFIER||||895|TRAK1|protein_coding|CODING|ENST00000396175|13|C) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136298777 Proband 3 C T . . Gene=ADAMTS13;MT=SNP;MM=CM;CADD=33;VMM=83.9;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1427|ADAMTS13|protein_coding|CODING||11|T),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1371|ADAMTS13|protein_coding|CODING||11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R421C|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R421C|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R390C|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R93C|364|ADAMTS13|protein_coding|CODING|ENST00000536611|5|T),UTR_3_PRIME(MODIFIER||240||276|ADAMTS13|protein_coding|CODING|ENST00000371916|9|T),UTR_3_PRIME(MODIFIER||3747||344|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000495234|11|T),DOWNSTREAM(MODIFIER||3747||344|ADAMTS13|protein_coding|CODING|ENST00000371911||T),INTRON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|7|T),INTRON(MODIFIER||||276|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000474918|8|T) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136307825 Proband 3 C T . . Gene=ADAMTS13;MT=SNP;MM=CM;CADD=19.33;VMM=83.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A732V|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A732V|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A701V|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|18|T),UTR_3_PRIME(MODIFIER||9288||276|ADAMTS13|protein_coding|CODING|ENST00000371916|16|T),INTRON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|9|T),INTRON(MODIFIER||||344|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000495234|16|T),INTRON(MODIFIER||||276|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000474918|13|T),INTRON(MODIFIER||||364|ADAMTS13|protein_coding|CODING|ENST00000536611|10|T) GT ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 51870469 Proband 4 C A . . Gene=CLDND2;MT=SNP;MM=DN;CADD=24.3;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGc/gTc|G144V|167|CLDND2|protein_coding|CODING|ENST00000291715|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A101S|108|CLDND2|protein_coding|CODING|ENST00000593841|3|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGc/gTc|G144V|167|CLDND2|protein_coding|CODING|ENST00000601435|5|A),UPSTREAM(MODIFIER||1671|||CTD-2616J11.10|sense_intronic|NON_CODING|ENST00000595500||A),UPSTREAM(MODIFIER||797||255|ETFB|protein_coding|CODING|ENST00000309244||A),UPSTREAM(MODIFIER||849||177|ETFB|protein_coding|CODING|ENST00000596253||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||866|||ETFB|retained_intron|CODING|ENST00000593992||A),DOWNSTREAM(MODIFIER||4397||165|NKG7|protein_coding|CODING|ENST00000221978||A),DOWNSTREAM(MODIFIER||4391||142|NKG7|protein_coding|CODING|ENST00000595217||A),DOWNSTREAM(MODIFIER||4405||72|NKG7|protein_coding|CODING|ENST00000593572||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4405||85|NKG7|protein_coding|CODING|ENST00000600427||A),DOWNSTREAM(MODIFIER||4483||88|NKG7|protein_coding|CODING|ENST00000595157||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||43|CTD-2616J11.11|nonsense_mediated_decay|CODING|ENST00000600067|1|A) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 55753645 Proband 4 C T . . Gene=RRAGB;MT=SNP;MM=XL;CADD=15.97;VMM=0;EFF=UPSTREAM(MODIFIER||4189|||RRAGB|processed_transcript|CODING|ENST00000474757||T),INTRON(MODIFIER||||374|RRAGB|protein_coding|CODING|ENST00000262850|3|T),INTRON(MODIFIER||||346|RRAGB|protein_coding|CODING|ENST00000374941|3|T),INTRON(MODIFIER||||193|RRAGB|protein_coding|CODING|ENST00000414239|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||RRAGB|processed_transcript|CODING|ENST00000498762|1|T) GT ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 53329751 Proband 4 G C . . Gene=ZYG11A;MT=SNP;MM=CM;CADD=13.99;VMM=40.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K416N|759|ZYG11A|protein_coding|CODING|ENST00000371528|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K74N|417|ZYG11A|protein_coding|CODING|ENST00000371532|4|C) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 53333444 Proband 4 G T . . Gene=ZYG11A;MT=SNP;MM=CM;CADD=25.3;VMM=40.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V513F|759|ZYG11A|protein_coding|CODING|ENST00000371528|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V171F|417|ZYG11A|protein_coding|CODING|ENST00000371532|7|T) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 56913497 Proband 4 G C . . Gene=SLC12A3;MT=SNP;MM=CM;CADD=25.8;VMM=136.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G460A|1030|SLC12A3|protein_coding|CODING|ENST00000438926|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G459A|1029|SLC12A3|protein_coding|CODING|ENST00000566786|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G460A|1021|SLC12A3|protein_coding|CODING|ENST00000563236|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G459A|1020|SLC12A3|protein_coding|CODING|ENST00000262502|11|C) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 56936411 Proband 4 CAG C . . Gene=SLC12A3;MT=INDEL;MM=CM;CADD=35;VMM=136.23;EFF=FRAME_SHIFT(HIGH||aga/|R959|1030|SLC12A3|protein_coding|CODING|ENST00000438926|24|C),FRAME_SHIFT(HIGH||aga/|R958|1029|SLC12A3|protein_coding|CODING|ENST00000566786|24|C),FRAME_SHIFT(HIGH||aga/|R950|1021|SLC12A3|protein_coding|CODING|ENST00000563236|24|C),FRAME_SHIFT(HIGH||aga/|R949|1020|SLC12A3|protein_coding|CODING|ENST00000262502|24|C),UPSTREAM(MODIFIER||4034|||RPS24P17|processed_pseudogene|NON_CODING|ENST00000479895||C),UPSTREAM(MODIFIER||4526|||SLC12A3|processed_transcript|CODING|ENST00000563352||C),EXON(MODIFIER|||||SLC12A3|retained_intron|CODING|ENST00000569002|1|C) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149401493 Proband 4 C T . . Gene=HMGXB3;MT=SNP;MM=CM;CADD=12.5;VMM=32.34;EFF=UPSTREAM(MODIFIER||9|||RPS20P4|processed_pseudogene|NON_CODING|ENST00000461659||T),INTRON(MODIFIER||||1292|HMGXB3|protein_coding|CODING|ENST00000502717|6|T),INTRON(MODIFIER||||1260|HMGXB3|protein_coding|CODING|ENST00000503427|6|T) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149406387 Proband 4 G A . . Gene=HMGXB3;MT=SNP;MM=CM;CADD=23.6;VMM=32.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V527M|1292|HMGXB3|protein_coding|CODING|ENST00000502717|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V495M|1260|HMGXB3|protein_coding|CODING|ENST00000503427|9|A),UPSTREAM(MODIFIER||4903|||RPS20P4|processed_pseudogene|NON_CODING|ENST00000461659||A),UPSTREAM(MODIFIER||239||111|HMGXB3|nonsense_mediated_decay|CODING|ENST00000514469||A),UPSTREAM(MODIFIER||3493|||HMGXB3|retained_intron|CODING|ENST00000513318||A),DOWNSTREAM(MODIFIER||2525|||snoU13|snoRNA|NON_CODING|ENST00000458810||A) GT ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 61106765 Proband 5 G A . . Gene=DAK;MT=SNP;MM=CM;CADD=34;VMM=44.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R115Q|575|DAK|protein_coding|CODING|ENST00000394900|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R115Q|161|DAK|protein_coding|CODING|ENST00000532173|6|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R114Q|533|DAK|protein_coding|CODING|ENST00000529479|3|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2382|||DAK|retained_intron|CODING|ENST00000533853||A),UPSTREAM(MODIFIER||3030|||DAK|retained_intron|CODING|ENST00000524953||A),UPSTREAM(MODIFIER||3108|||DAK|retained_intron|CODING|ENST00000534134||A),UPSTREAM(MODIFIER||3917|||DAK|retained_intron|CODING|ENST00000534370||A),UPSTREAM(MODIFIER||4323|||DAK|retained_intron|CODING|ENST00000528061||A),UPSTREAM(MODIFIER||4628||219|DAK|protein_coding|CODING|ENST00000534084||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||148|||DAK|processed_transcript|CODING|ENST00000530456||A),DOWNSTREAM(MODIFIER||1191|||DAK|processed_transcript|CODING|ENST00000530057||A),DOWNSTREAM(MODIFIER||1203|||DAK|processed_transcript|CODING|ENST00000525170||A),DOWNSTREAM(MODIFIER||1210|||DAK|retained_intron|CODING|ENST00000529121||A),DOWNSTREAM(MODIFIER||1258|||DAK|processed_transcript|CODING|ENST00000529620||A),DOWNSTREAM(MODIFIER||170|||DAK|processed_transcript|CODING|ENST00000533393||A),DOWNSTREAM(MODIFIER||1185||56|DAK|protein_coding|CODING|ENST00000524968||A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1092|DDB1|nonsense_mediated_decay|CODING|ENST00000540166|1|A),EXON(MODIFIER|||||DAK|retained_intron|CODING|ENST00000529092|2|A) GT ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 61113650 Proband 5 G A . . Gene=DAK;MT=SNP;MM=CM;CADD=11.92;VMM=44.43;EFF=UPSTREAM(MODIFIER||3582||1092|DDB1|nonsense_mediated_decay|CODING|ENST00000540166||A),DOWNSTREAM(MODIFIER||2660||263|CYB561A3|protein_coding|CODING|ENST00000447532||A),DOWNSTREAM(MODIFIER||3400|||DAK|retained_intron|CODING|ENST00000533853||A),DOWNSTREAM(MODIFIER||3185|||DAK|retained_intron|CODING|ENST00000524953||A),DOWNSTREAM(MODIFIER||3019|||DAK|retained_intron|CODING|ENST00000534134||A),DOWNSTREAM(MODIFIER||2212|||DAK|retained_intron|CODING|ENST00000534370||A),DOWNSTREAM(MODIFIER||862|||DAK|retained_intron|CODING|ENST00000528061||A),DOWNSTREAM(MODIFIER||218|||DAK|retained_intron|CODING|ENST00000524440||A),DOWNSTREAM(MODIFIER||2567||242|CYB561A3|protein_coding|CODING|ENST00000294072||A),DOWNSTREAM(MODIFIER||2576||259|CYB561A3|protein_coding|CODING|ENST00000426130||A),DOWNSTREAM(MODIFIER||2640|||CYB561A3|processed_transcript|CODING|ENST00000540317||A),DOWNSTREAM(MODIFIER||2712|||CYB561A3|retained_intron|CODING|ENST00000536452||A),DOWNSTREAM(MODIFIER||3469||95|CYB561A3|protein_coding|CODING|ENST00000546151||A),DOWNSTREAM(MODIFIER||3479||105|CYB561A3|nonsense_mediated_decay|CODING|ENST00000540755||A),DOWNSTREAM(MODIFIER||3663||104|CYB561A3|protein_coding|CODING|ENST00000544118||A),DOWNSTREAM(MODIFIER||3948||242|CYB561A3|protein_coding|CODING|ENST00000536915||A),DOWNSTREAM(MODIFIER||4102||109|CYB561A3|protein_coding|CODING|ENST00000539890||A),DOWNSTREAM(MODIFIER||4881||123|CYB561A3|protein_coding|CODING|ENST00000540139||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4919||198|CYB561A3|protein_coding|CODING|ENST00000542361||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||575|DAK|protein_coding|CODING|ENST00000394900|17|A),INTRON(MODIFIER||||533|DAK|protein_coding|CODING|ENST00000529479|15|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||219|DAK|protein_coding|CODING|ENST00000534084|6|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DAK|retained_intron|CODING|ENST00000525366|3|A),EXON(MODIFIER|||||DAK|retained_intron|CODING|ENST00000530329|4|A) GT ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176860948 Proband 5 G A . . Gene=GRK6;MT=SNP;MM=CM;CADD=23.1;VMM=34.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A258T|589|GRK6|protein_coding|CODING|ENST00000528793|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A226T|252|GRK6|protein_coding|CODING|ENST00000506296|9|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A258T|576|GRK6|protein_coding|CODING|ENST00000355472|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A258T|475|GRK6|protein_coding|CODING|ENST00000507633|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A258T|560|GRK6|protein_coding|CODING|ENST00000355958|9|A),UTR_3_PRIME(MODIFIER||380||88|GRK6|nonsense_mediated_decay|CODING|ENST00000508705|5|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4556|||PRR7-AS1|antisense|NON_CODING|ENST00000425316||A),DOWNSTREAM(MODIFIER||1690||62|GRK6|protein_coding|CODING|ENST00000502598||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||758||128|GRK6|protein_coding|CODING|ENST00000511244||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2980||16|GRK6|protein_coding|CODING|ENST00000512684||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||542|GRK6|protein_coding|CODING|ENST00000393576|8|A),EXON(MODIFIER|||||GRK6|retained_intron|CODING|ENST00000515666|7|A) GT ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176869611 Proband 5 A G . . Gene=GRK6;MT=SNP;MM=CM;CADD=13.38;VMM=34.39;EFF=UTR_3_PRIME(MODIFIER||783||589|GRK6|protein_coding|CODING|ENST00000528793|16|G),UTR_3_PRIME(MODIFIER||820||576|GRK6|protein_coding|CODING|ENST00000355472|16|G),UTR_3_PRIME(MODIFIER||820||542|GRK6|protein_coding|CODING|ENST00000393576|16|G),UPSTREAM(MODIFIER||4185||274|PRR7|protein_coding|CODING|ENST00000323249||G),UPSTREAM(MODIFIER||3835||177|PRR7|protein_coding|CODING|ENST00000507881||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4217||274|PRR7|protein_coding|CODING|ENST00000502922||G),DOWNSTREAM(MODIFIER||1257||560|GRK6|protein_coding|CODING|ENST00000355958||G),DOWNSTREAM(MODIFIER||546|||GRK6|retained_intron|CODING|ENST00000515666||G),DOWNSTREAM(MODIFIER||193|||PRR7-AS1|antisense|NON_CODING|ENST00000514846||G),DOWNSTREAM(MODIFIER||457|||PRR7-AS1|antisense|NON_CODING|ENST00000511565||G),DOWNSTREAM(MODIFIER||3369|||PRR7-AS1|antisense|NON_CODING|ENST00000506465||G),INTRON(MODIFIER|||||PRR7-AS1|antisense|NON_CODING|ENST00000425316|2|G) GT ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 27741426 Proband 6 T A . . Gene=WASF2;MT=SNP;MM=DN;CADD=21.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N190I|498|WASF2|protein_coding|CODING|ENST00000430629|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N190I|281|WASF2|protein_coding|CODING|ENST00000536657|6|A) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33979917 Proband 6 T C . . Gene=CSMD2;MT=SNP;MM=CM;CADD=21.6;VMM=36.79;EFF=UTR_3_PRIME(MODIFIER||5201||3631|CSMD2|protein_coding|CODING|ENST00000373381|71|C),UTR_3_PRIME(MODIFIER||5201||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|70|C),UPSTREAM(MODIFIER||1574|||RP4-580O19.2|processed_pseudogene|NON_CODING|ENST00000424879||C) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34092132 Proband 6 G A . . Gene=CSMD2;MT=SNP;MM=CM;CADD=15;VMM=36.79;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1750|3631|CSMD2|protein_coding|CODING|ENST00000373381|33|A),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1710|3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|33|A),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S623|1167|CSMD2|protein_coding|CODING|ENST00000373380|12|A),UTR_5_PRIME(MODIFIER||3144||426|CSMD2|protein_coding|CODING|ENST00000373377|1|A),UTR_5_PRIME(MODIFIER||3144||426|CSMD2|protein_coding|CODING|ENST00000373388|12|A) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 22627803 Proband 6 C A . . Gene=C2CD5;MT=SNP;MM=CM;CADD=26;VMM=31.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G655V|1054|C2CD5|protein_coding|CODING|ENST00000545552|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G642V|1000|C2CD5|protein_coding|CODING|ENST00000333957|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G633V|1042|C2CD5|protein_coding|CODING|ENST00000396028|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G642V|1051|C2CD5|protein_coding|CODING|ENST00000446597|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G644V|1053|C2CD5|protein_coding|CODING|ENST00000536386|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G642V|1051|C2CD5|protein_coding|CODING|ENST00000542676|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G457V|856|C2CD5|protein_coding|CODING|ENST00000544930|17|A),UPSTREAM(MODIFIER||2564||281|C2CD5|protein_coding|CODING|ENST00000539615||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2424|||C2CD5|retained_intron|CODING|ENST00000540245||A),DOWNSTREAM(MODIFIER||3159|||C2CD5|retained_intron|CODING|ENST00000541310||A),EXON(MODIFIER|||||C2CD5|processed_transcript|CODING|ENST00000537643|2|A) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 22697320 Proband 6 G A . . Gene=C2CD5;MT=SNP;MM=CM;CADD=11.17;VMM=31.02;EFF=UTR_5_PRIME(MODIFIER||236||1054|C2CD5|protein_coding|CODING|ENST00000545552|1|A),UTR_5_PRIME(MODIFIER||236||1000|C2CD5|protein_coding|CODING|ENST00000333957|1|A),UTR_5_PRIME(MODIFIER||236||1042|C2CD5|protein_coding|CODING|ENST00000396028|1|A),UTR_5_PRIME(MODIFIER||236||1051|C2CD5|protein_coding|CODING|ENST00000446597|1|A),UTR_5_PRIME(MODIFIER||236||1053|C2CD5|protein_coding|CODING|ENST00000536386|1|A),UTR_5_PRIME(MODIFIER||19908||856|C2CD5|protein_coding|CODING|ENST00000544930|1|A),UPSTREAM(MODIFIER||133||1051|C2CD5|protein_coding|CODING|ENST00000542676||A),UPSTREAM(MODIFIER||197|||C2CD5|retained_intron|CODING|ENST00000535304||A),EXON(MODIFIER|||||C2CD5|retained_intron|CODING|ENST00000541310|1|A) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 65235824 Proband 6 G C . . Gene=SPTB;MT=SNP;MM=CM;CADD=23.9;VMM=81.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1984V|2328|SPTB|protein_coding|CODING|ENST00000389722|28|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L649V|1028|SPTB|protein_coding|CODING|ENST00000553938|10|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1984V|2328|SPTB|protein_coding|CODING|ENST00000556626|29|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1984V|2137|SPTB|protein_coding|CODING|ENST00000389721|28|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1984V|2137|SPTB|protein_coding|CODING|ENST00000542895|29|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L1984V|2106|SPTB|protein_coding|CODING|ENST00000389720|28|C),UPSTREAM(MODIFIER||893|||SPTB|retained_intron|CODING|ENST00000542694||C) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 65263313 Proband 6 C G . . Gene=SPTB;MT=SNP;MM=CM;CADD=25.7;VMM=81.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E435Q|2328|SPTB|protein_coding|CODING|ENST00000389722|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E435Q|2328|SPTB|protein_coding|CODING|ENST00000556626|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E435Q|2137|SPTB|protein_coding|CODING|ENST00000389721|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E435Q|2137|SPTB|protein_coding|CODING|ENST00000542895|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E435Q|2106|SPTB|protein_coding|CODING|ENST00000389720|10|G) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52384594 Proband 6 A G . . Gene=DNAH1;MT=SNP;MM=CM;CADD=24.5;VMM=90.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D906G|4265|DNAH1|protein_coding|CODING|ENST00000420323|16|G),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|16|G),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000497875|17|G) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52400807 Proband 6 G T . . Gene=DNAH1;MT=SNP;MM=CM;CADD=27;VMM=90.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gTt|G1890V|4265|DNAH1|protein_coding|CODING|ENST00000420323|36|T),DOWNSTREAM(MODIFIER||4315|||DNAH1|processed_transcript|CODING|ENST00000466628||T),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|36|T) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149495250 Proband 6 C T . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=12.89;VMM=41.31;EFF=UTR_3_PRIME(MODIFIER||76||1106|PDGFRB|protein_coding|CODING|ENST00000261799|23|T),UPSTREAM(MODIFIER||2315||972|CSF1R|protein_coding|CODING|ENST00000286301||T),UPSTREAM(MODIFIER||2315||48|CSF1R|protein_coding|CODING|ENST00000511344||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||729|||PDGFRB|processed_transcript|CODING|ENST00000520851||T),DOWNSTREAM(MODIFIER||40||239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579||T),DOWNSTREAM(MODIFIER||3780|||PDGFRB|processed_transcript|CODING|ENST00000519575||T) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149514495 Proband 6 C T . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=28.7;VMM=41.31;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1106|PDGFRB|protein_coding|CODING||4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|1106|PDGFRB|protein_coding|CODING|ENST00000261799|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R86Q|145|PDGFRB|protein_coding|CODING|ENST00000517488|3|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|173|PDGFRB|protein_coding|CODING|ENST00000517957|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||822|||PDGFRB|retained_intron|CODING|ENST00000522466||T),DOWNSTREAM(MODIFIER||2372|||PDGFRB|processed_transcript|CODING|ENST00000517660||T) GT ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 221052770 Proband 7 T G . . Gene=HLX;MT=SNP;MM=HR;CADD=15.04;VMM=0;EFF=UTR_5_PRIME(MODIFIER||430||488|HLX|protein_coding|CODING|ENST00000366903|1|G),UPSTREAM(MODIFIER||1641||150|HLX|protein_coding|CODING|ENST00000427693||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1814||274|HLX|protein_coding|CODING|ENST00000549319||G),INTRON(MODIFIER|||||HLA-AS1|antisense|NON_CODING|ENST00000552026|1|G) GT ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 86590377 Proband 7 C T . . Gene=HNRNPK;MT=SNP;MM=DN;CADD=23.6;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|464|HNRNPK|protein_coding|CODING|ENST00000376263|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|464|HNRNPK|protein_coding|CODING|ENST00000376281|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|463|HNRNPK|protein_coding|CODING|ENST00000376264|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|463|HNRNPK|protein_coding|CODING|ENST00000351839|5|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|463|HNRNPK|protein_coding|CODING|ENST00000360384|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGc/cAc|R86H|378|HNRNPK|protein_coding|CODING|ENST00000457156|6|T|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+EXON(LOW|||||HNRNPK|retained_intron|CODING|ENST00000376256|1|T),UPSTREAM(MODIFIER||4676|||HNRNPK|retained_intron|CODING|ENST00000493362||T),UPSTREAM(MODIFIER||4316|||HNRNPK|retained_intron|CODING|ENST00000492865||T),UPSTREAM(MODIFIER||4168||99|HNRNPK|protein_coding|CODING|ENST00000481820||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1046|||HNRNPK|retained_intron|CODING|ENST00000483135||T),INTRON(MODIFIER||||77|HNRNPK|nonsense_mediated_decay|CODING|ENST00000472778|5|T),EXON(MODIFIER|||||RP11-575L7.8|antisense|NON_CODING|ENST00000448389|2|T) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 75648320 Proband 7 G A . . Gene=MAGEE1;MT=SNP;MM=XL;CADD=19.21;VMM=0;EFF=UTR_5_PRIME(MODIFIER||4||957|MAGEE1|protein_coding|CODING|ENST00000361470|1|A) GT ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 135115628 Proband 7 G A . . Gene=SLC9A6;MT=SNP;MM=XL;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R568Q|701|SLC9A6|protein_coding|CODING|ENST00000370695|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R516Q|649|SLC9A6|protein_coding|CODING|ENST00000370701|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R536Q|669|SLC9A6|protein_coding|CODING|ENST00000370698|14|A) GT ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153209804 Proband 7 C A . . Gene=RENBP;MT=SNP;MM=XL;CADD=26;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V32L|427|RENBP|protein_coding|CODING|ENST00000393700|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V32L|254|RENBP|protein_coding|CODING|ENST00000412763|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V32L|413|RENBP|protein_coding|CODING|ENST00000369997|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cTt|R33L|60|RENBP|nonsense_mediated_decay|CODING|ENST00000423624|2|A),UPSTREAM(MODIFIER||2382||115|RENBP|nonsense_mediated_decay|CODING|ENST00000457282||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4136||124|RENBP|protein_coding|CODING|ENST00000451114||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||409||159|RENBP|nonsense_mediated_decay|CODING|ENST00000442361||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||720|||RENBP|processed_transcript|CODING|ENST00000462086||A),UPSTREAM(MODIFIER||120|||RENBP|retained_intron|CODING|ENST00000464227||A),DOWNSTREAM(MODIFIER||3206||2080|HCFC1|protein_coding|CODING|ENST00000369984||A),DOWNSTREAM(MODIFIER||3200||2035|HCFC1|protein_coding|CODING|ENST00000310441||A),DOWNSTREAM(MODIFIER||3204||610|HCFC1|protein_coding|CODING|ENST00000444191||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3210||1966|HCFC1|protein_coding|CODING|ENST00000354233||A),EXON(MODIFIER|||||RENBP|retained_intron|CODING|ENST00000471056|2|A),EXON(MODIFIER|||||RENBP|retained_intron|CODING|ENST00000475904|2|A) GT ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 39264468 Proband 7 T A . . Gene=FREM2;MT=SNP;MM=CM;CADD=23.2;VMM=33.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gAc|V996D|3169|FREM2|protein_coding|CODING|ENST00000280481|1|A) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 39455325 Proband 7 A G . . Gene=FREM2;MT=SNP;MM=CM;CADD=12.9;VMM=33.03;EFF=UTR_3_PRIME(MODIFIER||401||3169|FREM2|protein_coding|CODING|ENST00000280481|24|G) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 62192969 Proband 7 G A . . Gene=HELZ2;MT=SNP;MM=CM;CADD=27.8;VMM=44.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P2274L|2649|HELZ2|protein_coding|CODING|ENST00000467148|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1705L|2080|HELZ2|protein_coding|CODING|ENST00000427522|7|A),UPSTREAM(MODIFIER||11|||HELZ2|processed_transcript|CODING|ENST00000478861||A),DOWNSTREAM(MODIFIER||4908||318|C20orf195|protein_coding|CODING|ENST00000370097||A),DOWNSTREAM(MODIFIER||4908||318|C20orf195|protein_coding|CODING|ENST00000370098||A) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 62193999 Proband 7 C T . . Gene=HELZ2;MT=SNP;MM=CM;CADD=14.11;VMM=44.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2059Q|2649|HELZ2|protein_coding|CODING|ENST00000467148|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1490Q|2080|HELZ2|protein_coding|CODING|ENST00000427522|3|T),UPSTREAM(MODIFIER||1041|||HELZ2|processed_transcript|CODING|ENST00000478861||T),DOWNSTREAM(MODIFIER||4795|||HELZ2|processed_transcript|CODING|ENST00000454223||T) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 43180767 Proband 7 G A . . Gene=CUL9;MT=SNP;MM=CM;CADD=11.42;VMM=30.54;EFF=UPSTREAM(MODIFIER||619|||CUL9|retained_intron|CODING|ENST00000508656||A),UPSTREAM(MODIFIER||794||195|CUL9|nonsense_mediated_decay|CODING|ENST00000506830||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||772|||RP3-330M21.5|antisense|NON_CODING|ENST00000500590||A),INTRON(MODIFIER||||2517|CUL9|protein_coding|CODING|ENST00000252050|26|A),INTRON(MODIFIER||||2407|CUL9|protein_coding|CODING|ENST00000354495|24|A),INTRON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000515773|25|A),INTRON(MODIFIER||||2489|CUL9|protein_coding|CODING|ENST00000372647|26|A),INTRON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000504485|2|A),INTRON(MODIFIER||||93|CUL9|nonsense_mediated_decay|CODING|ENST00000502719|1|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000505172|1|A),INTRON(MODIFIER|||||CUL9|processed_transcript|CODING|ENST00000502937|1|A),EXON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000513904|1|A) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 43180949 Proband 7 C T . . Gene=CUL9;MT=SNP;MM=CM;CADD=24.9;VMM=30.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1759W|2517|CUL9|protein_coding|CODING|ENST00000252050|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1649W|2407|CUL9|protein_coding|CODING|ENST00000354495|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1759W|2489|CUL9|protein_coding|CODING|ENST00000372647|27|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A72|93|CUL9|nonsense_mediated_decay|CODING|ENST00000502719|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||437|||CUL9|retained_intron|CODING|ENST00000508656||T),UPSTREAM(MODIFIER||612||195|CUL9|nonsense_mediated_decay|CODING|ENST00000506830||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||590|||RP3-330M21.5|antisense|NON_CODING|ENST00000500590||T),EXON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000515773|26|T),EXON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000504485|3|T),EXON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000505172|2|T),EXON(MODIFIER|||||CUL9|processed_transcript|CODING|ENST00000502937|2|T),EXON(MODIFIER|||||CUL9|retained_intron|CODING|ENST00000513904|1|T) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 113148181 Proband 7 C G . . Gene=SVEP1;MT=SNP;MM=CM;CADD=24.3;VMM=52.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E3412Q|3571|SVEP1|protein_coding|CODING|ENST00000401783|43|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E1338Q|1497|SVEP1|protein_coding|CODING|ENST00000297826|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E3389Q|3548|SVEP1|protein_coding|CODING|ENST00000374469|43|G) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 113238708 Proband 7 C T . . Gene=SVEP1;MT=SNP;MM=CM;CADD=17.98;VMM=52.76;EFF=INTRON(MODIFIER||||3571|SVEP1|protein_coding|CODING|ENST00000401783|13|T),INTRON(MODIFIER||||3548|SVEP1|protein_coding|CODING|ENST00000374469|13|T),INTRON(MODIFIER|||||SVEP1|processed_transcript|CODING|ENST00000467821|12|T),INTRON(MODIFIER||||1549|SVEP1|protein_coding|CODING|ENST00000302728|13|T),INTRON(MODIFIER||||845|SVEP1|protein_coding|CODING|ENST00000374461|13|T) GT ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 9885629 Proband 8 G A . . Gene=RPUSD3;MT=SNP;MM=DN;CADD=21.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R24W|351|RPUSD3|protein_coding|CODING|ENST00000383820|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R24W|336|RPUSD3|protein_coding|CODING|ENST00000433535|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R14W|279|RPUSD3|protein_coding|CODING|ENST00000427174|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R20W|246|RPUSD3|protein_coding|CODING|ENST00000418713|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R39W|151|RPUSD3|protein_coding|CODING|ENST00000433972|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R11W|101|RPUSD3|protein_coding|CODING|ENST00000433555|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R17W|35|RPUSD3|nonsense_mediated_decay|CODING|ENST00000451405|1|A|WARNING_TRANSCRIPT_NO_START_CODON),MOTIF[MA0079.2:SP1](MODIFIER||||||||||A),UPSTREAM(MODIFIER||3328||143|RPUSD3|protein_coding|CODING|ENST00000423108||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3079|||RPUSD3|retained_intron|CODING|ENST00000464783||A),UPSTREAM(MODIFIER||4232|||RPUSD3|retained_intron|CODING|ENST00000466141||A),UPSTREAM(MODIFIER||3||212|RPUSD3|protein_coding|CODING|ENST00000424438||A),UPSTREAM(MODIFIER||374|||RPUSD3|retained_intron|CODING|ENST00000475470||A),UPSTREAM(MODIFIER||208|||RPUSD3|processed_transcript|CODING|ENST00000473522||A),INTRON(MODIFIER||||326|TTLL3|protein_coding|CODING|ENST00000455274|4|A),INTRON(MODIFIER|||||RPUSD3|processed_transcript|CODING|ENST00000485705|1|A),EXON(MODIFIER|||||RPUSD3|retained_intron|CODING|ENST00000484134|1|A),EXON(MODIFIER|||||RPUSD3|retained_intron|CODING|ENST00000472381|1|A),EXON(MODIFIER|||||RPUSD3|retained_intron|CODING|ENST00000460909|1|A) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 154284928 Proband 8 T C . . Gene=GEMIN5;MT=SNP;MM=HR;CADD=20.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K835R|1508|GEMIN5|protein_coding|CODING|ENST00000285873|17|C) GT ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 86200461 Proband 8 C G . . Gene=COL24A1;MT=SNP;MM=CM;CADD=24.4;VMM=44.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E1657Q|1714|COL24A1|protein_coding|CODING|ENST00000370571|59|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E1636Q|1693|COL24A1|protein_coding|CODING|ENST00000436319|57|G),UTR_3_PRIME(MODIFIER||225992||890|COL24A1|nonsense_mediated_decay|CODING|ENST00000426639|58|G),DOWNSTREAM(MODIFIER||11||165|COL24A1|nonsense_mediated_decay|CODING|ENST00000473734||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 86581286 Proband 8 C G . . Gene=COL24A1;MT=SNP;MM=CM;CADD=15.78;VMM=44.9;EFF=INTRON(MODIFIER||||1714|COL24A1|protein_coding|CODING|ENST00000370571|3|G),INTRON(MODIFIER||||1693|COL24A1|protein_coding|CODING|ENST00000436319|3|G),INTRON(MODIFIER||||890|COL24A1|nonsense_mediated_decay|CODING|ENST00000426639|3|G) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2275701 Proband 8 C T . . Gene=SGSM2;MT=SNP;MM=CM;CADD=13.07;VMM=34.33;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S569|1051|SGSM2|protein_coding|CODING|ENST00000268989|15|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S524|1006|SGSM2|protein_coding|CODING|ENST00000426855|14|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S524|987|SGSM2|protein_coding|CODING|ENST00000574563|14|T),UPSTREAM(MODIFIER||174|||SGSM2|retained_intron|CODING|ENST00000574250||T),UPSTREAM(MODIFIER||3953|||SGSM2|retained_intron|CODING|ENST00000572841||T),DOWNSTREAM(MODIFIER||2654|||RP1-59D14.5|antisense|NON_CODING|ENST00000574290||T),DOWNSTREAM(MODIFIER||587|||SGSM2|retained_intron|CODING|ENST00000575367||T),DOWNSTREAM(MODIFIER||4392|||RP1-59D14.5|antisense|NON_CODING|ENST00000573007||T),EXON(MODIFIER|||||SGSM2|retained_intron|CODING|ENST00000574857|4|T),EXON(MODIFIER|||||SGSM2|retained_intron|CODING|ENST00000573717|1|T) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2282779 Proband 8 G A . . Gene=SGSM2;MT=SNP;MM=CM;CADD=23.7;VMM=34.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1041I|1051|SGSM2|protein_coding|CODING|ENST00000268989|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V996I|1006|SGSM2|protein_coding|CODING|ENST00000426855|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V30I|35|SGSM2|protein_coding|CODING|ENST00000572925|2|A),UTR_3_PRIME(MODIFIER||148||113|SGSM2|protein_coding|CODING|ENST00000573851|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||179|||RP1-59D14.5|antisense|NON_CODING|ENST00000574290||A),UPSTREAM(MODIFIER||1739|||RP1-59D14.5|antisense|NON_CODING|ENST00000573007||A),DOWNSTREAM(MODIFIER||4575||582|MNT|protein_coding|CODING|ENST00000174618||A),DOWNSTREAM(MODIFIER||4905|||SGSM2|retained_intron|CODING|ENST00000574857||A),INTRON(MODIFIER||||987|SGSM2|protein_coding|CODING|ENST00000574563|22|A),EXON(MODIFIER|||||SGSM2|retained_intron|CODING|ENST00000572841|5|A) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 25657062 Proband 8 C A . . Gene=TOP2B;MT=SNP;MM=CM;CADD=44;VMM=33.7;EFF=STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1123*|1626|TOP2B|protein_coding|CODING|ENST00000264331|26|A),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1118*|1621|TOP2B|protein_coding|CODING|ENST00000435706|26|A),STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E1118*|1149|TOP2B|protein_coding|CODING|ENST00000424225|27|A|WARNING_TRANSCRIPT_NO_STOP_CODON),STOP_LOST(HIGH|MISSENSE|tGa/tTa|*71L|70|TOP2B|nonsense_mediated_decay|CODING|ENST00000413971|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||78||478|TOP2B|protein_coding|CODING|ENST00000542520|3|A),UTR_5_PRIME(MODIFIER||78||478|TOP2B|protein_coding|CODING|ENST00000540199|2|A),EXON(MODIFIER|||||TOP2B|processed_transcript|CODING|ENST00000475717|2|A) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 25677679 Proband 8 C T . . Gene=TOP2B;MT=SNP;MM=CM;CADD=8.169;VMM=33.7;EFF=INTRON(MODIFIER||||1626|TOP2B|protein_coding|CODING|ENST00000264331|6|T),INTRON(MODIFIER||||1621|TOP2B|protein_coding|CODING|ENST00000435706|6|T),INTRON(MODIFIER||||1149|TOP2B|protein_coding|CODING|ENST00000424225|7|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 39371954 Proband 8 T C . . Gene=DAB2;MT=SNP;MM=CM;CADD=16.81;VMM=69.06;EFF=UTR_3_PRIME(MODIFIER||3167||770|DAB2|protein_coding|CODING|ENST00000320816|15|C),UTR_3_PRIME(MODIFIER||3167||552|DAB2|protein_coding|CODING|ENST00000339788|14|C),UTR_3_PRIME(MODIFIER||3167||749|DAB2|protein_coding|CODING|ENST00000545653|14|C),UPSTREAM(MODIFIER||562|||C9|processed_transcript|CODING|ENST00000509186||C),DOWNSTREAM(MODIFIER||1169||749|DAB2|protein_coding|CODING|ENST00000509337||C),DOWNSTREAM(MODIFIER||2893|||DAB2|retained_intron|CODING|ENST00000502879||C),INTRON(MODIFIER|||||C9|processed_transcript|CODING|ENST00000483232|2|C) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 39394413 Proband 8 C T . . Gene=DAB2;MT=SNP;MM=CM;CADD=33;VMM=69.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|770|DAB2|protein_coding|CODING|ENST00000320816|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|552|DAB2|protein_coding|CODING|ENST00000339788|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|749|DAB2|protein_coding|CODING|ENST00000545653|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|749|DAB2|protein_coding|CODING|ENST00000509337|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|116|DAB2|nonsense_mediated_decay|CODING|ENST00000507539|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|74|DAB2|protein_coding|CODING|ENST00000511792|2|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|66|DAB2|protein_coding|CODING|ENST00000503513|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E4K|37|DAB2|protein_coding|CODING|ENST00000515700|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1872|||DAB2|processed_transcript|CODING|ENST00000512525||T),DOWNSTREAM(MODIFIER||43|||DAB2|processed_transcript|CODING|ENST00000515269||T),INTRON(MODIFIER|||||C9|processed_transcript|CODING|ENST00000483232|1|T),EXON(MODIFIER|||||DAB2|processed_transcript|CODING|ENST00000513052|2|T) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17602826 Proband 8 G T . . Gene=FAM8A1;MT=SNP;MM=CM;CADD=46;VMM=197.54;EFF=STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E240*|413|FAM8A1|protein_coding|CODING|ENST00000259963|2|T) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17605246 Proband 8 G A . . Gene=FAM8A1;MT=SNP;MM=CM;CADD=25.9;VMM=197.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V315I|413|FAM8A1|protein_coding|CODING|ENST00000259963|3|A) GT ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 75558185 Proband 9 C T . . Gene=ZSWIM8;MT=SNP;MM=DN;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1384W|1842|ZSWIM8|protein_coding|CODING|ENST00000398706|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1384W|1834|ZSWIM8|protein_coding|CODING|ENST00000604729|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1346W|1796|ZSWIM8|protein_coding|CODING|ENST00000603114|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1379W|1655|ZSWIM8|protein_coding|CODING|ENST00000604524|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1379W|1837|ZSWIM8|protein_coding|CODING|ENST00000605216|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R718W|1231|ZSWIM8|protein_coding|CODING|ENST00000603187|11|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R653W|1111|ZSWIM8|protein_coding|CODING|ENST00000412198|11|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R651W|1101|ZSWIM8|protein_coding|CODING|ENST00000604754|11|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||122||1336|ZSWIM8|nonsense_mediated_decay|CODING|ENST00000433366|20|T),UTR_3_PRIME(MODIFIER||122||904|ZSWIM8|nonsense_mediated_decay|CODING|ENST00000492395|12|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||635|||ZSWIM8|processed_transcript|CODING|ENST00000603409||T),UPSTREAM(MODIFIER||647|||ZSWIM8|processed_transcript|CODING|ENST00000604165||T),UPSTREAM(MODIFIER||883|||ZSWIM8|processed_transcript|CODING|ENST00000603195||T),UPSTREAM(MODIFIER||1206|||ZSWIM8|processed_transcript|CODING|ENST00000603840||T),UPSTREAM(MODIFIER||1695|||ZSWIM8|processed_transcript|CODING|ENST00000603309||T),UPSTREAM(MODIFIER||2292||203|ZSWIM8|protein_coding|CODING|ENST00000466354||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2480|||ZSWIM8|processed_transcript|CODING|ENST00000466568||T),DOWNSTREAM(MODIFIER||3484||883|NDST2|protein_coding|CODING|ENST00000309979||T),DOWNSTREAM(MODIFIER||3484|||ZSWIM8|processed_transcript|CODING|ENST00000431225||T),DOWNSTREAM(MODIFIER||2067|||ZSWIM8|processed_transcript|CODING|ENST00000425051||T),DOWNSTREAM(MODIFIER||2076|||ZSWIM8|processed_transcript|CODING|ENST00000489234||T),DOWNSTREAM(MODIFIER||977|||ZSWIM8|processed_transcript|CODING|ENST00000487278||T),DOWNSTREAM(MODIFIER||3489||760|NDST2|protein_coding|CODING|ENST00000299641||T),DOWNSTREAM(MODIFIER||4169||148|NDST2|protein_coding|CODING|ENST00000429742||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ZSWIM8-AS1|antisense|NON_CODING|ENST00000456638|2|T),INTRON(MODIFIER||||815|RP11-574K11.31|nonsense_mediated_decay|CODING|ENST00000603027|15|T),INTRON(MODIFIER||||42|RP11-574K11.31|nonsense_mediated_decay|CODING|ENST00000603706|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 118709166 Proband 9 G A . . Gene=UBE2A;MT=SNP;MM=XL;CADD=17.54;VMM=0;EFF=INTRON(MODIFIER||||152|UBE2A|protein_coding|CODING|ENST00000371558|2|A),INTRON(MODIFIER||||122|UBE2A|protein_coding|CODING|ENST00000346330|2|A),INTRON(MODIFIER|||||UBE2A|processed_transcript|CODING|ENST00000469205|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152279345 Proband 9 C T . . Gene=FLG;MT=SNP;MM=CM;CADD=11.74;VMM=32.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G2673R|4061|FLG|protein_coding|CODING|ENST00000368799|3|T),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000593011|2|T),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000420707|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152285861 Proband 9 G A . . Gene=FLG;MT=SNP;MM=CM;CADD=25.7;VMM=32.65;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R501*|4061|FLG|protein_coding|CODING|ENST00000368799|3|A),UPSTREAM(MODIFIER||74|||FLG-AS1|antisense|NON_CODING|ENST00000392688||A),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000593011|2|A),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000420707|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18789874 Proband 9 C T . . Gene=CACNB2;MT=SNP;MM=CM;CADD=33;VMM=47.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S197F|660|CACNB2|protein_coding|CODING|ENST00000324631|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S197F|636|CACNB2|protein_coding|CODING|ENST00000352115|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S169F|632|CACNB2|protein_coding|CODING|ENST00000282343|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S169F|608|CACNB2|protein_coding|CODING|ENST00000377331|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S142F|605|CACNB2|protein_coding|CODING|ENST00000396576|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S142F|567|CACNB2|protein_coding|CODING|ENST00000377319|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S143F|606|CACNB2|protein_coding|CODING|ENST00000377329|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S149F|612|CACNB2|protein_coding|CODING|ENST00000377315|4|T),DOWNSTREAM(MODIFIER||2152|||CACNB2|retained_intron|CODING|ENST00000498816||T),INTRON(MODIFIER||||410|CACNB2|protein_coding|CODING|ENST00000377328|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18829485 Proband 9 T TGTAA . . Gene=CACNB2;MT=INDEL;MM=CM;CADD=12.89;VMM=47.91;EFF=UTR_3_PRIME(MODIFIER||833||660|CACNB2|protein_coding|CODING|ENST00000324631|14|TGTAA),UTR_3_PRIME(MODIFIER||833||632|CACNB2|protein_coding|CODING|ENST00000282343|14|TGTAA),UTR_3_PRIME(MODIFIER||833||605|CACNB2|protein_coding|CODING|ENST00000396576|13|TGTAA),UTR_3_PRIME(MODIFIER||833||567|CACNB2|protein_coding|CODING|ENST00000377319|13|TGTAA),UTR_3_PRIME(MODIFIER||833||606|CACNB2|protein_coding|CODING|ENST00000377329|13|TGTAA),UTR_3_PRIME(MODIFIER||833||612|CACNB2|protein_coding|CODING|ENST00000377315|13|TGTAA),DOWNSTREAM(MODIFIER||833||636|CACNB2|protein_coding|CODING|ENST00000352115||TGTAA),DOWNSTREAM(MODIFIER||833||410|CACNB2|protein_coding|CODING|ENST00000377328||TGTAA),DOWNSTREAM(MODIFIER||833||608|CACNB2|protein_coding|CODING|ENST00000377331||TGTAA),DOWNSTREAM(MODIFIER||1029|||RP11-499P20.2|antisense|NON_CODING|ENST00000436485||TGTAA),INTRON(MODIFIER|||||RP11-499P20.2|antisense|NON_CODING|ENST00000425669|3|TGTAA) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 160193736 Proband 9 T C . . Gene=BAZ2B;MT=SNP;MM=CM;CADD=14.48;VMM=58.09;EFF=UPSTREAM(MODIFIER||4229|||BAZ2B|retained_intron|CODING|ENST00000548440||C),INTRON(MODIFIER||||2168|BAZ2B|protein_coding|CODING|ENST00000392783|32|C),INTRON(MODIFIER||||2068|BAZ2B|protein_coding|CODING|ENST00000343439|31|C),INTRON(MODIFIER||||2134|BAZ2B|protein_coding|CODING|ENST00000355831|31|C),INTRON(MODIFIER||||2132|BAZ2B|protein_coding|CODING|ENST00000392782|31|C),INTRON(MODIFIER|||||BAZ2B|processed_transcript|CODING|ENST00000474437|2|C),INTRON(MODIFIER||||178|BAZ2B|protein_coding|CODING|ENST00000426648|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 160204038 Proband 9 C T . . Gene=BAZ2B;MT=SNP;MM=CM;CADD=34;VMM=58.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1805N|2168|BAZ2B|protein_coding|CODING|ENST00000392783|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1705N|2068|BAZ2B|protein_coding|CODING|ENST00000343439|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1771N|2134|BAZ2B|protein_coding|CODING|ENST00000355831|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1769N|2132|BAZ2B|protein_coding|CODING|ENST00000392782|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D23N|178|BAZ2B|protein_coding|CODING|ENST00000426648|1|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||BAZ2B|processed_transcript|CODING|ENST00000474437|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 150020180 Proband 9 T G . . Gene=SYNPO;MT=SNP;MM=CM;CADD=16.25;VMM=34.46;EFF=UPSTREAM(MODIFIER||40||903|SYNPO|protein_coding|CODING|ENST00000307662||G),UPSTREAM(MODIFIER||60||685|SYNPO|protein_coding|CODING|ENST00000519664||G),INTRON(MODIFIER||||929|SYNPO|protein_coding|CODING|ENST00000394243|2|G),INTRON(MODIFIER||||929|SYNPO|protein_coding|CODING|ENST00000522122|2|G),INTRON(MODIFIER|||||SYNPO|processed_transcript|CODING|ENST00000518872|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 150036505 Proband 9 G A . . Gene=SYNPO;MT=SNP;MM=CM;CADD=18.7;VMM=34.46;EFF=NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||903|SYNPO|protein_coding|CODING||3|A),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T856|903|SYNPO|protein_coding|CODING|ENST00000307662|3|A),MOTIF[MA0162.1:Egr1](MODIFIER||||||||||A),UPSTREAM(MODIFIER||3939||251|MYOZ3|protein_coding|CODING|ENST00000297130||A),UPSTREAM(MODIFIER||3931||251|MYOZ3|protein_coding|CODING|ENST00000517768||A),DOWNSTREAM(MODIFIER||2711||929|SYNPO|protein_coding|CODING|ENST00000394243||A),DOWNSTREAM(MODIFIER||4609||929|SYNPO|protein_coding|CODING|ENST00000522122||A),DOWNSTREAM(MODIFIER||4606||685|SYNPO|protein_coding|CODING|ENST00000519664||A) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 116411923 Proband 9 C T . . Gene=MET;MT=SNP;MM=CM;CADD=23.9;VMM=49.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R988C|1408|MET|protein_coding|CODING|ENST00000318493|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R970C|1390|MET|protein_coding|CODING|ENST00000397752|14|T),DOWNSTREAM(MODIFIER||1960||214|MET|protein_coding|CODING|ENST00000422097||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||157|MET|protein_coding|CODING|ENST00000454623|2|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 116438380 Proband 9 G A . . Gene=MET;MT=SNP;MM=CM;CADD=17.4;VMM=49.63;EFF=UTR_3_PRIME(MODIFIER||2202||1390|MET|protein_coding|CODING|ENST00000397752|21|A),DOWNSTREAM(MODIFIER||1984||1408|MET|protein_coding|CODING|ENST00000318493||A),DOWNSTREAM(MODIFIER||1726||260|MET|protein_coding|CODING|ENST00000539704||A) GT ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 74752965 Proband 10 A G . . Gene=FA2H;MT=SNP;MM=HM;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F236S|372|FA2H|protein_coding|CODING|ENST00000219368|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F23S|159|FA2H|protein_coding|CODING|ENST00000544337|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S153P|156|FA2H|nonsense_mediated_decay|CODING|ENST00000567683|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F170S|191|FA2H|protein_coding|CODING|ENST00000569949|5|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1961|||FA2H|retained_intron|CODING|ENST00000562145||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 160494301 Proband 10 T C . . Gene=IGF2R;MT=SNP;MM=DN;CADD=24.8;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||2491|IGF2R|protein_coding|CODING||34|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Cac|Y1583H|2491|IGF2R|protein_coding|CODING|ENST00000356956|34|C),UPSTREAM(MODIFIER||147|||IGF2R|retained_intron|CODING|ENST00000487607||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 7025589 Proband 11 C T . . Gene=ENO2;MT=SNP;MM=DN;CADD=29.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|434|ENO2|protein_coding|CODING|ENST00000229277|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|102|ENO2|protein_coding|CODING|ENST00000537688|4|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|434|ENO2|protein_coding|CODING|ENST00000541477|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|391|ENO2|protein_coding|CODING|ENST00000538763|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|391|ENO2|protein_coding|CODING|ENST00000544774|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|315|ENO2|protein_coding|CODING|ENST00000545045|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R32W|434|ENO2|protein_coding|CODING|ENST00000535366|2|T),UPSTREAM(MODIFIER||904|||ENO2|retained_intron|CODING|ENST00000441285||T),UPSTREAM(MODIFIER||3149||73|ENO2|nonsense_mediated_decay|CODING|ENST00000535275||T),DOWNSTREAM(MODIFIER||2182||343|LRRC23|protein_coding|CODING|ENST00000007969||T),DOWNSTREAM(MODIFIER||2231||62|LRRC23|nonsense_mediated_decay|CODING|ENST00000451681||T),DOWNSTREAM(MODIFIER||2196||62|LRRC23|nonsense_mediated_decay|CODING|ENST00000428946||T),DOWNSTREAM(MODIFIER||2197||312|LRRC23|protein_coding|CODING|ENST00000323702||T),DOWNSTREAM(MODIFIER||3614||62|LRRC23|nonsense_mediated_decay|CODING|ENST00000431207||T),DOWNSTREAM(MODIFIER||2182||343|LRRC23|protein_coding|CODING|ENST00000443597||T),DOWNSTREAM(MODIFIER||2457||216|LRRC23|protein_coding|CODING|ENST00000436789||T),DOWNSTREAM(MODIFIER||2354||202|LRRC23|protein_coding|CODING|ENST00000429740||T),DOWNSTREAM(MODIFIER||2197|||LRRC23|processed_transcript|CODING|ENST00000472633||T),EXON(MODIFIER|||||ENO2|retained_intron|CODING|ENST00000537838|3|T),EXON(MODIFIER|||||ENO2|retained_intron|CODING|ENST00000536199|3|T),EXON(MODIFIER|||||ENO2|retained_intron|CODING|ENST00000539713|3|T),EXON(MODIFIER|||||ENO2|retained_intron|CODING|ENST00000542509|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45910365 Proband 11 C G . . Gene=CD3EAP;MT=SNP;MM=HR;CADD=28.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttG|F14L|512|CD3EAP|protein_coding|CODING|ENST00000589804|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttG|F12L|510|CD3EAP|protein_coding|CODING|ENST00000309424|2|G),START_GAINED(LOW||||38|CD3EAP|protein_coding|CODING|ENST00000592852|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||1396||38|CD3EAP|protein_coding|CODING|ENST00000592852|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2069||828|PPP1R13L|protein_coding|CODING|ENST00000360957||G),UPSTREAM(MODIFIER||758||828|PPP1R13L|protein_coding|CODING|ENST00000418234||G),UPSTREAM(MODIFIER||798|||PPP1R13L|retained_intron|CODING|ENST00000585905||G),UPSTREAM(MODIFIER||780||127|PPP1R13L|protein_coding|CODING|ENST00000593226||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2044||59|PPP1R13L|protein_coding|CODING|ENST00000592134||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||226||297|ERCC1|protein_coding|CODING|ENST00000300853||G),DOWNSTREAM(MODIFIER||227||225|ERCC1|protein_coding|CODING|ENST00000423698||G),DOWNSTREAM(MODIFIER||2439|||ERCC1|processed_transcript|CODING|ENST00000588738||G),DOWNSTREAM(MODIFIER||2507||273|ERCC1|protein_coding|CODING|ENST00000340192||G),DOWNSTREAM(MODIFIER||2509||90|ERCC1|protein_coding|CODING|ENST00000590701||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2512||213|ERCC1|protein_coding|CODING|ENST00000591636||G),DOWNSTREAM(MODIFIER||2561||297|ERCC1|protein_coding|CODING|ENST00000589165||G),INTRON(MODIFIER||||66|CD3EAP|protein_coding|CODING|ENST00000590794|1|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 86479818 Proband 11 A G . . Gene=GRM3;MT=SNP;MM=DN;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N842D|879|GRM3|protein_coding|CODING|ENST00000361669|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N434D|471|GRM3|protein_coding|CODING|ENST00000546348|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N714D|751|GRM3|protein_coding|CODING|ENST00000536043|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q484R|535|GRM3|protein_coding|CODING|ENST00000394720|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q486R|537|GRM3|protein_coding|CODING|ENST00000439827|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 150889930 Proband 11 G C . . Gene=FATE1;MT=SNP;MM=XL;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E100Q|183|FATE1|protein_coding|CODING|ENST00000370350|3|C),INTRON(MODIFIER||||80|FATE1|protein_coding|CODING|ENST00000417321|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 54852646 Proband 11 T C . . Gene=GTSF1;MT=SNP;MM=CM;CADD=12.91;VMM=32.91;EFF=INTRON(MODIFIER|||||RP11-753H16.3|antisense|NON_CODING|ENST00000550474|3|C),INTRON(MODIFIER|||||RP11-753H16.5|antisense|NON_CODING|ENST00000552785|3|C),INTRON(MODIFIER||||176|GTSF1|nonsense_mediated_decay|CODING|ENST00000546931|9|C),INTRON(MODIFIER||||167|GTSF1|protein_coding|CODING|ENST00000552397|8|C),INTRON(MODIFIER||||167|GTSF1|protein_coding|CODING|ENST00000305879|8|C),INTRON(MODIFIER|||||GTSF1|processed_transcript|CODING|ENST00000552395|7|C),INTRON(MODIFIER|||||GTSF1|processed_transcript|CODING|ENST00000552336|2|C),INTRON(MODIFIER|||||GTSF1|retained_intron|CODING|ENST00000546575|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 54858856 Proband 11 T C . . Gene=GTSF1;MT=SNP;MM=CM;CADD=23.1;VMM=32.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R38G|176|GTSF1|nonsense_mediated_decay|CODING|ENST00000546931|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R38G|167|GTSF1|protein_coding|CODING|ENST00000552397|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R38G|167|GTSF1|protein_coding|CODING|ENST00000305879|3|C),UPSTREAM(MODIFIER||1739|||GTSF1|retained_intron|CODING|ENST00000546575||C),DOWNSTREAM(MODIFIER||3853|||GTSF1|processed_transcript|CODING|ENST00000549083||C),INTRON(MODIFIER|||||RP11-753H16.3|antisense|NON_CODING|ENST00000550474|3|C),INTRON(MODIFIER|||||RP11-753H16.5|antisense|NON_CODING|ENST00000552785|3|C),INTRON(MODIFIER|||||GTSF1|processed_transcript|CODING|ENST00000552395|2|C),EXON(MODIFIER|||||GTSF1|processed_transcript|CODING|ENST00000548538|2|C),EXON(MODIFIER|||||GTSF1|retained_intron|CODING|ENST00000546739|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 68045953 Proband 11 C T . . Gene=PLEKHH1;MT=SNP;MM=CM;CADD=15.63;VMM=45.38;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S984|1364|PLEKHH1|protein_coding|CODING|ENST00000329153|21|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S57|181|PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561370|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||2954||329|PLEKHH1|protein_coding|CODING|ENST00000417684|2|T),UPSTREAM(MODIFIER||58|||PLEKHH1|retained_intron|CODING|ENST00000558296||T),UPSTREAM(MODIFIER||193|||PLEKHH1|retained_intron|CODING|ENST00000560100||T),UPSTREAM(MODIFIER||1659|||PLEKHH1|retained_intron|CODING|ENST00000558366||T),UPSTREAM(MODIFIER||2350|||PLEKHH1|retained_intron|CODING|ENST00000559981||T),UPSTREAM(MODIFIER||4875||33|PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561057||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3637|||PLEKHH1|retained_intron|CODING|ENST00000558981||T),DOWNSTREAM(MODIFIER||2719||181|PIGH|protein_coding|CODING|ENST00000561272||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558386|14|T),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000557971|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 68053807 Proband 11 T G . . Gene=PLEKHH1;MT=SNP;MM=CM;CADD=24.9;VMM=45.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tGc|F1317C|1364|PLEKHH1|protein_coding|CODING|ENST00000329153|29|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tGc|F33C|80|PLEKHH1|nonsense_mediated_decay|CODING|ENST00000559168|2|G|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|ctT/ctG|L258|329|PLEKHH1|protein_coding|CODING|ENST00000417684|12|G),UTR_3_PRIME(MODIFIER||4942||181|PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561370|12|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||1106||33|PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561057|4|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2221||188|PIGH|protein_coding|CODING|ENST00000216452||G),DOWNSTREAM(MODIFIER||4933|||PLEKHH1|retained_intron|CODING|ENST00000560100||G),DOWNSTREAM(MODIFIER||1488|||PLEKHH1|retained_intron|CODING|ENST00000558366||G),DOWNSTREAM(MODIFIER||1106|||PLEKHH1|retained_intron|CODING|ENST00000559766||G),DOWNSTREAM(MODIFIER||179|||PLEKHH1|processed_transcript|CODING|ENST00000559832||G),DOWNSTREAM(MODIFIER||2624||135|PIGH|protein_coding|CODING|ENST00000558987||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2665|||PIGH|retained_intron|CODING|ENST00000559118||G),DOWNSTREAM(MODIFIER||2716||187|PIGH|protein_coding|CODING|ENST00000560722||G),DOWNSTREAM(MODIFIER||2903||136|PIGH|protein_coding|CODING|ENST00000558493||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2947||83|PIGH|nonsense_mediated_decay|CODING|ENST00000558198||G),DOWNSTREAM(MODIFIER||3022||133|PIGH|nonsense_mediated_decay|CODING|ENST00000561303||G),DOWNSTREAM(MODIFIER||3037||83|PIGH|nonsense_mediated_decay|CODING|ENST00000558001||G),DOWNSTREAM(MODIFIER||4719||183|PIGH|protein_coding|CODING|ENST00000559581||G),INTRON(MODIFIER||||181|PIGH|protein_coding|CODING|ENST00000561272|3|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558386|22|G),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000557971|20|G),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000559981|6|G),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558214|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 93394151 Proband 11 A G . . Gene=CHGA;MT=SNP;MM=CM;CADD=14.22;VMM=34.13;EFF=UPSTREAM(MODIFIER||3871|||CHGA|retained_intron|CODING|ENST00000556876||G),DOWNSTREAM(MODIFIER||217|||CHGA|retained_intron|CODING|ENST00000556098||G),INTRON(MODIFIER||||457|CHGA|protein_coding|CODING|ENST00000216492|4|G),INTRON(MODIFIER||||38|CHGA|nonsense_mediated_decay|CODING|ENST00000556076|3|G),INTRON(MODIFIER||||306|CHGA|protein_coding|CODING|ENST00000334654|4|G),INTRON(MODIFIER|||||CHGA|processed_transcript|CODING|ENST00000553866|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 93397765 Proband 11 G A . . Gene=CHGA;MT=SNP;MM=CM;CADD=21.4;VMM=34.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E176K|457|CHGA|protein_coding|CODING|ENST00000216492|6|A),UTR_3_PRIME(MODIFIER||3847||38|CHGA|nonsense_mediated_decay|CODING|ENST00000556076|5|A),UPSTREAM(MODIFIER||257|||CHGA|retained_intron|CODING|ENST00000556876||A),DOWNSTREAM(MODIFIER||3831|||CHGA|retained_intron|CODING|ENST00000556098||A),INTRON(MODIFIER||||306|CHGA|protein_coding|CODING|ENST00000334654|5|A),EXON(MODIFIER|||||CHGA|processed_transcript|CODING|ENST00000553866|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36868716 Proband 11 T C . . Gene=MLLT6;MT=SNP;MM=CM;CADD=21.5;VMM=56;EFF=UPSTREAM(MODIFIER||4961||301|MLLT6|protein_coding|CODING|ENST00000471200||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2865|||CTB-58E17.9|antisense|NON_CODING|ENST00000579499||C),DOWNSTREAM(MODIFIER||4664|||MLLT6|processed_transcript|CODING|ENST00000579179||C),DOWNSTREAM(MODIFIER||4178|||MLLT6|retained_intron|CODING|ENST00000464666||C),INTRON(MODIFIER||||1093|MLLT6|protein_coding|CODING|ENST00000325718|7|C),INTRON(MODIFIER||||325|MLLT6|protein_coding|CODING|ENST00000378137|7|C),INTRON(MODIFIER|||||MLLT6|retained_intron|CODING|ENST00000578946|7|C),INTRON(MODIFIER|||||MLLT6|retained_intron|CODING|ENST00000466997|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36886025 Proband 11 G T . . Gene=MLLT6;MT=SNP;MM=CM;CADD=21.2;VMM=56;EFF=UTR_3_PRIME(MODIFIER||4174||1093|MLLT6|protein_coding|CODING|ENST00000325718|20|T),UPSTREAM(MODIFIER||1574||121|AC006449.1|protein_coding|CODING|ENST00000595377||T),UPSTREAM(MODIFIER||463||127|CISD3|protein_coding|CODING|ENST00000439660||T),UPSTREAM(MODIFIER||587|||CISD3|processed_transcript|CODING|ENST00000578573||T),UPSTREAM(MODIFIER||1335|||CISD3|retained_intron|CODING|ENST00000581668||T),DOWNSTREAM(MODIFIER||2030|||RNA5SP440|rRNA|NON_CODING|ENST00000363245||T),DOWNSTREAM(MODIFIER||4125||344|PCGF2|protein_coding|CODING|ENST00000360797||T),DOWNSTREAM(MODIFIER||2580|||MLLT6|retained_intron|CODING|ENST00000494578||T),DOWNSTREAM(MODIFIER||2580|||MLLT6|retained_intron|CODING|ENST00000484263||T),DOWNSTREAM(MODIFIER||2601|||MLLT6|processed_transcript|CODING|ENST00000582830||T),DOWNSTREAM(MODIFIER||4126||344|PCGF2|protein_coding|CODING|ENST00000580830||T),DOWNSTREAM(MODIFIER||4128||65|PCGF2|protein_coding|CODING|ENST00000578487||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4508||344|PCGF2|protein_coding|CODING|ENST00000581345||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27448998 Proband 11 G A . . Gene=CAD;MT=SNP;MM=CM;CADD=27.1;VMM=146.22;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||2225|CAD|protein_coding|CODING|ENST00000264705|12|A),UPSTREAM(MODIFIER||94|||CAD|retained_intron|CODING|ENST00000491891||A),UPSTREAM(MODIFIER||1371|||CAD|processed_transcript|CODING|ENST00000464159||A),INTRON(MODIFIER||||2162|CAD|protein_coding|CODING|ENST00000403525|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27464966 Proband 11 G A . . Gene=CAD;MT=SNP;MM=CM;CADD=35;VMM=146.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2024Q|2225|CAD|protein_coding|CODING|ENST00000264705|39|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1961Q|2162|CAD|protein_coding|CODING|ENST00000403525|38|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R59Q|292|CAD|protein_coding|CODING|ENST00000428460|1|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3920||267|CAD|protein_coding|CODING|ENST00000458503||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||147||277|CAD|protein_coding|CODING|ENST00000456311||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1876|||CAD|retained_intron|CODING|ENST00000487239||A),DOWNSTREAM(MODIFIER||1880|||CAD|processed_transcript|CODING|ENST00000491461||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 160994197 Proband 11 C T . . Gene=ITGB6;MT=SNP;MM=CM;CADD=29.4;VMM=94.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G470R|788|ITGB6|protein_coding|CODING|ENST00000283249|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G428R|746|ITGB6|protein_coding|CODING|ENST00000428609|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G470R|681|ITGB6|protein_coding|CODING|ENST00000409967|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G470R|788|ITGB6|protein_coding|CODING|ENST00000409872|11|T),UTR_3_PRIME(MODIFIER||57890||70|ITGB6|nonsense_mediated_decay|CODING|ENST00000409583|10|T),DOWNSTREAM(MODIFIER||4295|||ITGB6|processed_transcript|CODING|ENST00000485635||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 160994350 Proband 11 C G . . Gene=ITGB6;MT=SNP;MM=CM;CADD=23.4;VMM=94.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V419L|788|ITGB6|protein_coding|CODING|ENST00000283249|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V377L|746|ITGB6|protein_coding|CODING|ENST00000428609|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V419L|681|ITGB6|protein_coding|CODING|ENST00000409967|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V419L|788|ITGB6|protein_coding|CODING|ENST00000409872|11|G),UTR_3_PRIME(MODIFIER||57737||70|ITGB6|nonsense_mediated_decay|CODING|ENST00000409583|10|G),DOWNSTREAM(MODIFIER||4142|||ITGB6|processed_transcript|CODING|ENST00000485635||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156011685 Proband 12 C T . . Gene=UBQLN4;MT=SNP;MM=DN;CADD=28.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E482K|601|UBQLN4|protein_coding|CODING|ENST00000368309|9|T),EXON(MODIFIER|||||UBQLN4|retained_intron|CODING|ENST00000459954|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 42489117 Proband 12 C T . . Gene=ATP1A3;MT=SNP;MM=DN;CADD=28.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G316S|1225|ATP1A3|non_stop_decay|CODING|ENST00000441343|8|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G316S|1013|ATP1A3|protein_coding|CODING|ENST00000302102|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G329S|1026|ATP1A3|protein_coding|CODING|ENST00000545399|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G327S|1024|ATP1A3|protein_coding|CODING|ENST00000543770|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G286S|983|ATP1A3|protein_coding|CODING|ENST00000602133|8|T),DOWNSTREAM(MODIFIER||441||177|ATP1A3|protein_coding|CODING|ENST00000473086||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3107|||ATP1A3|processed_transcript|CODING|ENST00000468774||T),DOWNSTREAM(MODIFIER||3240|||ATP1A3|processed_transcript|CODING|ENST00000465007||T),EXON(MODIFIER|||||ATP1A3|retained_intron|CODING|ENST00000485672|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115469566 Proband 12 T C . . Gene=COMMD10;MT=SNP;MM=HR;CADD=18.21;VMM=0;EFF=INTRON(MODIFIER||||202|COMMD10|protein_coding|CODING|ENST00000274458|4|C),INTRON(MODIFIER||||139|COMMD10|nonsense_mediated_decay|CODING|ENST00000507356|4|C),INTRON(MODIFIER||||188|COMMD10|protein_coding|CODING|ENST00000515539|4|C),INTRON(MODIFIER||||121|COMMD10|protein_coding|CODING|ENST00000506589|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115469566 Proband 12 T C . . Gene=COMMD10;MT=SNP;MM=HR;CADD=18.21;VMM=0;EFF=INTRON(MODIFIER||||202|COMMD10|protein_coding|CODING|ENST00000274458|4|C),INTRON(MODIFIER||||139|COMMD10|nonsense_mediated_decay|CODING|ENST00000507356|4|C),INTRON(MODIFIER||||188|COMMD10|protein_coding|CODING|ENST00000515539|4|C),INTRON(MODIFIER||||121|COMMD10|protein_coding|CODING|ENST00000506589|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115469566 Proband 12 T C . . Gene=COMMD10;MT=SNP;MM=HR;CADD=18.21;VMM=0;EFF=INTRON(MODIFIER||||202|COMMD10|protein_coding|CODING|ENST00000274458|4|C),INTRON(MODIFIER||||139|COMMD10|nonsense_mediated_decay|CODING|ENST00000507356|4|C),INTRON(MODIFIER||||188|COMMD10|protein_coding|CODING|ENST00000515539|4|C),INTRON(MODIFIER||||121|COMMD10|protein_coding|CODING|ENST00000506589|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115469566 Proband 12 T C . . Gene=COMMD10;MT=SNP;MM=HR;CADD=18.21;VMM=0;EFF=INTRON(MODIFIER||||202|COMMD10|protein_coding|CODING|ENST00000274458|4|C),INTRON(MODIFIER||||139|COMMD10|nonsense_mediated_decay|CODING|ENST00000507356|4|C),INTRON(MODIFIER||||188|COMMD10|protein_coding|CODING|ENST00000515539|4|C),INTRON(MODIFIER||||121|COMMD10|protein_coding|CODING|ENST00000506589|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 33635227 Proband 12 C T . . Gene=KL;MT=SNP;MM=CM;CADD=25.3;VMM=76.63;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R671*|1012|KL|protein_coding|CODING|ENST00000380099|4|T),UTR_3_PRIME(MODIFIER||411||242|KL|protein_coding|CODING|ENST00000426690|4|T),EXON(MODIFIER|||||KL|processed_transcript|CODING|ENST00000487852|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 33638043 Proband 12 G A . . Gene=KL;MT=SNP;MM=CM;CADD=23.1;VMM=76.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R920H|1012|KL|protein_coding|CODING|ENST00000380099|5|A),DOWNSTREAM(MODIFIER||2378||242|KL|protein_coding|CODING|ENST00000426690||A),EXON(MODIFIER|||||KL|processed_transcript|CODING|ENST00000487852|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 85667528 Proband 12 C T . . Gene=GSE1;MT=SNP;MM=CM;CADD=23.9;VMM=30.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H6Y|1217|GSE1|protein_coding|CODING|ENST00000253458|2|T),INTRON(MODIFIER||||1113|GSE1|protein_coding|CODING|ENST00000405402|1|T),INTRON(MODIFIER||||209|GSE1|protein_coding|CODING|ENST00000411612|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1144|GSE1|protein_coding|CODING|ENST00000393243|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 85695118 Proband 12 C T . . Gene=GSE1;MT=SNP;MM=CM;CADD=11.79;VMM=30.48;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P669|1217|GSE1|protein_coding|CODING|ENST00000253458|9|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P565|1113|GSE1|protein_coding|CODING|ENST00000405402|8|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P596|1144|GSE1|protein_coding|CODING|ENST00000393243|8|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P475|985|GSE1|protein_coding|CODING|ENST00000412692|6|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||779|||GSE1|retained_intron|CODING|ENST00000469381||T),UPSTREAM(MODIFIER||1854||418|GSE1|protein_coding|CODING|ENST00000438180||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3028|||GSE1|retained_intron|CODING|ENST00000495192||T),UPSTREAM(MODIFIER||3508|||GSE1|retained_intron|CODING|ENST00000562659||T),DOWNSTREAM(MODIFIER||1839|||RN7SL381P|misc_RNA|NON_CODING|ENST00000577658||T),EXON(MODIFIER|||||GSE1|retained_intron|CODING|ENST00000479488|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 39288442 Proband 12 C A . . Gene=KCNJ6;MT=SNP;MM=CM;CADD=20.4;VMM=37.91;EFF=START_GAINED(LOW||||423|KCNJ6|protein_coding|CODING|ENST00000609713|1|A),UTR_5_PRIME(MODIFIER||75458||423|KCNJ6|protein_coding|CODING|ENST00000609713|1|A),UPSTREAM(MODIFIER||2885||423|KCNJ6|protein_coding|CODING|ENST00000288309||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 39288633 Proband 12 G A . . Gene=KCNJ6;MT=SNP;MM=CM;CADD=16.21;VMM=37.91;EFF=UTR_5_PRIME(MODIFIER||75649||423|KCNJ6|protein_coding|CODING|ENST00000609713|1|A),UPSTREAM(MODIFIER||3076||423|KCNJ6|protein_coding|CODING|ENST00000288309||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144995500 Proband 12 T C . . Gene=PLEC;MT=SNP;MM=CM;CADD=20.2;VMM=61.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2967C|4684|PLEC|protein_coding|CODING|ENST00000322810|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2830C|4547|PLEC|protein_coding|CODING|ENST00000345136|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2834C|4551|PLEC|protein_coding|CODING|ENST00000357649|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2830C|4547|PLEC|protein_coding|CODING|ENST00000354589|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2798C|4515|PLEC|protein_coding|CODING|ENST00000398774|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2808C|4525|PLEC|protein_coding|CODING|ENST00000354958|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2816C|4533|PLEC|protein_coding|CODING|ENST00000356346|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2857C|4574|PLEC|protein_coding|CODING|ENST00000436759|33|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y2853C|4570|PLEC|protein_coding|CODING|ENST00000527096|32|C),DOWNSTREAM(MODIFIER||600||197|PLEC|protein_coding|CODING|ENST00000527303||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 145006165 Proband 12 C G . . Gene=PLEC;MT=SNP;MM=CM;CADD=24.3;VMM=61.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W843C|4684|PLEC|protein_coding|CODING|ENST00000322810|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W706C|4547|PLEC|protein_coding|CODING|ENST00000345136|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W710C|4551|PLEC|protein_coding|CODING|ENST00000357649|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W706C|4547|PLEC|protein_coding|CODING|ENST00000354589|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W674C|4515|PLEC|protein_coding|CODING|ENST00000398774|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W684C|4525|PLEC|protein_coding|CODING|ENST00000354958|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W692C|4533|PLEC|protein_coding|CODING|ENST00000356346|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W733C|4574|PLEC|protein_coding|CODING|ENST00000436759|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W729C|4570|PLEC|protein_coding|CODING|ENST00000527096|18|G),UPSTREAM(MODIFIER||4986||197|PLEC|protein_coding|CODING|ENST00000527303||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||403||702|PLEC|protein_coding|CODING|ENST00000528025||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3280||189|PLEC|protein_coding|CODING|ENST00000526416||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3921||82|PLEC|protein_coding|CODING|ENST00000527816||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3982||173|PLEC|protein_coding|CODING|ENST00000528131||G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 8072722 Proband 13 T A . . Gene=ERRFI1;MT=SNP;MM=CM;CADD=11.98;VMM=31.62;EFF=UTR_3_PRIME(MODIFIER||548||462|ERRFI1|protein_coding|CODING|ENST00000377482|4|A),DOWNSTREAM(MODIFIER||765||79|ERRFI1|protein_coding|CODING|ENST00000467067||A),DOWNSTREAM(MODIFIER||1077||74|ERRFI1|protein_coding|CODING|ENST00000469499||A),DOWNSTREAM(MODIFIER||1378||52|ERRFI1|nonsense_mediated_decay|CODING|ENST00000487559||A),INTRON(MODIFIER||||53|ERRFI1|protein_coding|CODING|ENST00000474874|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 8073910 Proband 13 T A . . Gene=ERRFI1;MT=SNP;MM=CM;CADD=24.3;VMM=31.62;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cTt|H250L|462|ERRFI1|protein_coding|CODING|ENST00000377482|4|A),UTR_3_PRIME(MODIFIER||1420||79|ERRFI1|protein_coding|CODING|ENST00000467067|2|A),UTR_3_PRIME(MODIFIER||447||74|ERRFI1|protein_coding|CODING|ENST00000469499|3|A),DOWNSTREAM(MODIFIER||190||52|ERRFI1|nonsense_mediated_decay|CODING|ENST00000487559||A),INTRON(MODIFIER||||53|ERRFI1|protein_coding|CODING|ENST00000474874|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22915678 Proband 13 A G . . Gene=EPHA8;MT=SNP;MM=CM;CADD=23.2;VMM=45.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N432D|1005|EPHA8|protein_coding|CODING|ENST00000166244|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N432D|495|EPHA8|protein_coding|CODING|ENST00000374644|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N432D|495|EPHA8|protein_coding|CODING|ENST00000538803|6|G),NEXT_PROT[glycosylation-site:N-linked__GlcNAc..._](MODERATE||||1005|EPHA8|protein_coding|CODING||5|G),NEXT_PROT[glycosylation-site:N-linked__GlcNAc..._](MODERATE||||495|EPHA8|protein_coding|CODING||5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22923563 Proband 13 G GA . . Gene=EPHA8;MT=INDEL;MM=CM;CADD=16.74;VMM=45.67;EFF=NEXT_PROT[miscellaneous-region:Mediates_interaction_with_PIK3CG_and_required_for_endocytosis](LOW||||1005|EPHA8|protein_coding|CODING||9|GA),INTRON(MODIFIER||||1005|EPHA8|protein_coding|CODING|ENST00000166244|9|GA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 133331591 Proband 13 T C . . Gene=ANKLE2;MT=SNP;MM=CM;CADD=25.7;VMM=84.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K104E|938|ANKLE2|protein_coding|CODING|ENST00000357997|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K42E|876|ANKLE2|protein_coding|CODING|ENST00000539605|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K104E|648|ANKLE2|protein_coding|CODING|ENST00000337516|2|C),UPSTREAM(MODIFIER||3671||250|ANKLE2|protein_coding|CODING|ENST00000545623||C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 133331708 Proband 13 T C . . Gene=ANKLE2;MT=SNP;MM=CM;CADD=24.5;VMM=84.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M65V|938|ANKLE2|protein_coding|CODING|ENST00000357997|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3V|876|ANKLE2|protein_coding|CODING|ENST00000539605|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M65V|648|ANKLE2|protein_coding|CODING|ENST00000337516|2|C),UPSTREAM(MODIFIER||3788||250|ANKLE2|protein_coding|CODING|ENST00000545623||C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 41810481 Proband 13 G C . . Gene=RPAP1;MT=SNP;MM=CM;CADD=11.17;VMM=40.66;EFF=MOTIF[MA0114.1:HNF4A](MODIFIER||||||||||C),UTR_3_PRIME(MODIFIER||1955||1315|RPAP1|nonsense_mediated_decay|CODING|ENST00000562303|23|C),UPSTREAM(MODIFIER||4477||864|LTK|protein_coding|CODING|ENST00000263800||C),UPSTREAM(MODIFIER||4404||803|LTK|protein_coding|CODING|ENST00000355166||C),UPSTREAM(MODIFIER||4423|||LTK|retained_intron|CODING|ENST00000563518||C),UPSTREAM(MODIFIER||4487||562|LTK|protein_coding|CODING|ENST00000561619||C),UPSTREAM(MODIFIER||4396||734|LTK|protein_coding|CODING|ENST00000453182||C),DOWNSTREAM(MODIFIER||4223|||RPAP1|retained_intron|CODING|ENST00000564934||C),INTRON(MODIFIER||||1393|RPAP1|protein_coding|CODING|ENST00000304330|22|C),INTRON(MODIFIER|||||RPAP1|retained_intron|CODING|ENST00000565167|2|C),INTRON(MODIFIER||||1128|RPAP1|protein_coding|CODING|ENST00000561603|21|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 41819466 Proband 13 G A . . Gene=RPAP1;MT=SNP;MM=CM;CADD=34;VMM=40.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R549C|1393|RPAP1|protein_coding|CODING|ENST00000304330|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R549C|1128|RPAP1|protein_coding|CODING|ENST00000561603|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R549C|1315|RPAP1|nonsense_mediated_decay|CODING|ENST00000562303|13|A),UPSTREAM(MODIFIER||3424|||RPAP1|retained_intron|CODING|ENST00000564934||A),UPSTREAM(MODIFIER||298||199|RPAP1|protein_coding|CODING|ENST00000565035||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2061|||RPAP1|retained_intron|CODING|ENST00000561631||A),DOWNSTREAM(MODIFIER||720|||RPAP1|processed_transcript|CODING|ENST00000568413||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 47570985 Proband 13 G C . . Gene=ZC3H4;MT=SNP;MM=CM;CADD=23.4;VMM=35.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P847R|1303|ZC3H4|protein_coding|CODING|ENST00000253048|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P453R|909|ZC3H4|protein_coding|CODING|ENST00000601973|8|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ZC3H4|processed_transcript|CODING|ENST00000594019|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 47575223 Proband 13 GGCATGTCTGCGT G . . Gene=ZC3H4;MT=INDEL;MM=CM;CADD=13.49;VMM=35.22;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cacgcagacatgccg/ccg|HADMP649P|1303|ZC3H4|protein_coding|CODING|ENST00000253048|13|G),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cacgcagacatgccg/ccg|HADMP339P|909|ZC3H4|protein_coding|CODING|ENST00000601973|7|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ZC3H4|processed_transcript|CODING|ENST00000594019|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 43078639 Proband 13 C T . . Gene=FAM198A;MT=SNP;MM=CM;CADD=13.05;VMM=42.61;EFF=DOWNSTREAM(MODIFIER||4812|||KRBOX1|processed_transcript|CODING|ENST00000451200||T),DOWNSTREAM(MODIFIER||4600|||KRBOX1|processed_transcript|CODING|ENST00000418093||T),DOWNSTREAM(MODIFIER||4855||100|KRBOX1|protein_coding|CODING|ENST00000446977||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||106|KRBOX1|nonsense_mediated_decay|CODING|ENST00000443313|4|T),INTRON(MODIFIER||||575|FAM198A|nonsense_mediated_decay|CODING|ENST00000273146|2|T),INTRON(MODIFIER||||139|FAM198A|protein_coding|CODING|ENST00000488863|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||FAM198A|retained_intron|CODING|ENST00000434206|2|T),INTRON(MODIFIER|||||FAM198A|retained_intron|CODING|ENST00000492161|1|T),INTRON(MODIFIER||||575|FAM198A|protein_coding|CODING|ENST00000430121|2|T),EXON(MODIFIER|||||RP11-136C24.1|unprocessed_pseudogene|NON_CODING|ENST00000417304|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 43095112 Proband 13 G A . . Gene=FAM198A;MT=SNP;MM=CM;CADD=29.1;VMM=42.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E464K|575|FAM198A|nonsense_mediated_decay|CODING|ENST00000273146|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E35K|139|FAM198A|protein_coding|CODING|ENST00000488863|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E464K|575|FAM198A|protein_coding|CODING|ENST00000430121|3|A),UTR_3_PRIME(MODIFIER||56||106|KRBOX1|nonsense_mediated_decay|CODING|ENST00000443313|5|A),EXON(MODIFIER|||||FAM198A|retained_intron|CODING|ENST00000434206|3|A),EXON(MODIFIER|||||FAM198A|retained_intron|CODING|ENST00000492161|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 1540721 Proband 13 C G . . Gene=ASMTL;MT=SNP;MM=CM;CADD=22.4;VMM=46.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E359Q|621|ASMTL|protein_coding|CODING|ENST00000381317|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E283Q|545|ASMTL|protein_coding|CODING|ENST00000416733|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E301Q|563|ASMTL|protein_coding|CODING|ENST00000534940|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E343Q|605|ASMTL|protein_coding|CODING|ENST00000381333|8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 1544482 Proband 13 C T . . Gene=ASMTL;MT=SNP;MM=CM;CADD=17.68;VMM=46.95;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A332|621|ASMTL|protein_coding|CODING|ENST00000381317|8|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A256|545|ASMTL|protein_coding|CODING|ENST00000416733|7|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A274|563|ASMTL|protein_coding|CODING|ENST00000534940|8|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A316|605|ASMTL|protein_coding|CODING|ENST00000381333|7|T),DOWNSTREAM(MODIFIER||2138|||ASMTL|processed_transcript|CODING|ENST00000463763||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 112837915 Proband 14 T A . . Gene=ADRA2A;MT=SNP;MM=DN;CADD=27;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cAg|L54Q|465|ADRA2A|protein_coding|CODING|ENST00000280155|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176079803 Proband 14 T A . . Gene=TSPAN17;MT=SNP;MM=DN;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F115L|332|TSPAN17|protein_coding|CODING|ENST00000310032|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F115L|266|TSPAN17|protein_coding|CODING|ENST00000405525|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F49L|188|TSPAN17|protein_coding|CODING|ENST00000298564|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F115L|329|TSPAN17|protein_coding|CODING|ENST00000508164|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F103L|256|TSPAN17|protein_coding|CODING|ENST00000504168|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F115L|263|TSPAN17|protein_coding|CODING|ENST00000515708|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F47L|202|TSPAN17|protein_coding|CODING|ENST00000507471|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||1021||58|TSPAN17|nonsense_mediated_decay|CODING|ENST00000503030|4|A),INTRON(MODIFIER||||309|TSPAN17|protein_coding|CODING|ENST00000503045|3|A),EXON(MODIFIER|||||TSPAN17|retained_intron|CODING|ENST00000514705|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 108647503 Proband 14 T C . . Gene=GUCY2F;MT=SNP;MM=XL;CADD=17.32;VMM=0;EFF=INTRON(MODIFIER||||1108|GUCY2F|protein_coding|CODING|ENST00000218006|10|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 215847544 Proband 14 C T . . Gene=USH2A;MT=SNP;MM=CM;CADD=23.4;VMM=40.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R4570H|5226|USH2A|protein_coding|CODING|ENST00000366943|63|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R4570H|5202|USH2A|protein_coding|CODING|ENST00000307340|63|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216074253 Proband 14 G A . . Gene=USH2A;MT=SNP;MM=CM;CADD=15.13;VMM=40.63;EFF=SPLICE_SITE_REGION+INTRON(LOW||||5226|USH2A|protein_coding|CODING|ENST00000366943|38|A),SPLICE_SITE_REGION+INTRON(LOW||||5202|USH2A|protein_coding|CODING|ENST00000307340|38|A),EXON(MODIFIER|||||RP5-1111A8.3|antisense|NON_CODING|ENST00000414995|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124270336 Proband 14 T C . . Gene=DNAH10;MT=SNP;MM=CM;CADD=25;VMM=110.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I364T|4471|DNAH10|protein_coding|CODING|ENST00000409039|9|C),EXON(MODIFIER|||||DNAH10|retained_intron|CODING|ENST00000467219|4|C),EXON(MODIFIER|||||DNAH10|retained_intron|CODING|ENST00000447853|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124350579 Proband 14 C T . . Gene=DNAH10;MT=SNP;MM=CM;CADD=31;VMM=110.94;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R2258*|4471|DNAH10|protein_coding|CODING|ENST00000409039|40|T),UTR_3_PRIME(MODIFIER||5026||617|DNAH10|nonsense_mediated_decay|CODING|ENST00000497783|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 58772789 Proband 14 C G . . Gene=ARID4A;MT=SNP;MM=CM;CADD=24.6;VMM=94.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A78G|1257|ARID4A|protein_coding|CODING|ENST00000355431|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A78G|1188|ARID4A|protein_coding|CODING|ENST00000348476|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A78G|1203|ARID4A|protein_coding|CODING|ENST00000395168|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A41G|264|ARID4A|protein_coding|CODING|ENST00000445108|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gGt|A78G|1188|ARID4A|protein_coding|CODING|ENST00000431317|4|G),UTR_3_PRIME(MODIFIER||2528||40|ARID4A|nonsense_mediated_decay|CODING|ENST00000431612|6|G),DOWNSTREAM(MODIFIER||1081||53|ARID4A|protein_coding|CODING|ENST00000424658||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 58814423 Proband 14 C G . . Gene=ARID4A;MT=SNP;MM=CM;CADD=28;VMM=94.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H411D|1257|ARID4A|protein_coding|CODING|ENST00000355431|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H411D|1188|ARID4A|protein_coding|CODING|ENST00000348476|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H411D|1203|ARID4A|protein_coding|CODING|ENST00000395168|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H411D|1188|ARID4A|protein_coding|CODING|ENST00000431317|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H89D|747|ARID4A|protein_coding|CODING|ENST00000417477|5|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3592|||ARID4A|processed_transcript|CODING|ENST00000553355||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50154480 Proband 14 A G . . Gene=ATP8B4;MT=SNP;MM=CM;CADD=22.6;VMM=90.93;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F1087L|1192|ATP8B4|protein_coding|CODING|ENST00000284509|27|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F177L|282|ATP8B4|protein_coding|CODING|ENST00000558498|4|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F1087L|1192|ATP8B4|protein_coding|CODING|ENST00000559829|27|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F389L|494|ATP8B4|protein_coding|CODING|ENST00000560479|8|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||156687||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000559726|28|G),UTR_3_PRIME(MODIFIER||35956||717|ATP8B4|nonsense_mediated_decay|CODING|ENST00000557955|26|G),UTR_3_PRIME(MODIFIER||156687||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000558906|27|G),EXON(MODIFIER|||||ATP8B4|retained_intron|CODING|ENST00000558203|4|G),EXON(MODIFIER|||||ATP8B4|retained_intron|CODING|ENST00000560354|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50264839 Proband 14 C T . . Gene=ATP8B4;MT=SNP;MM=CM;CADD=29.6;VMM=90.93;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G395S|1192|ATP8B4|protein_coding|CODING|ENST00000284509|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G395S|1192|ATP8B4|protein_coding|CODING|ENST00000559829|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G395S|717|ATP8B4|nonsense_mediated_decay|CODING|ENST00000557955|13|T),UTR_3_PRIME(MODIFIER||46328||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000559726|14|T),UTR_3_PRIME(MODIFIER||46328||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000558906|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 700363 Proband 14 G T . . Gene=WDR90;MT=SNP;MM=CM;CADD=19.75;VMM=54.49;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||1750|WDR90|protein_coding|CODING|ENST00000549091|4|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000552943|3|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000420061|4|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000549648|4|T),SPLICE_SITE_DONOR+INTRON(HIGH||||1748|WDR90|protein_coding|CODING|ENST00000293879|4|T),UPSTREAM(MODIFIER||1163|||AL022341.3|antisense|NON_CODING|ENST00000455294||T),UPSTREAM(MODIFIER||1759|||WDR90|retained_intron|CODING|ENST00000550593||T),UPSTREAM(MODIFIER||4695|||WDR90|processed_transcript|CODING|ENST00000552648||T),UPSTREAM(MODIFIER||4695|||WDR90|retained_intron|CODING|ENST00000546516||T),DOWNSTREAM(MODIFIER||1889||160|FAM195A|protein_coding|CODING|ENST00000307650||T),DOWNSTREAM(MODIFIER||4671|||LA16c-349E10.1|antisense|NON_CODING|ENST00000573609||T),DOWNSTREAM(MODIFIER||1889||65|FAM195A|nonsense_mediated_decay|CODING|ENST00000491999||T),DOWNSTREAM(MODIFIER||1889||75|FAM195A|nonsense_mediated_decay|CODING|ENST00000474840||T),DOWNSTREAM(MODIFIER||1889|||FAM195A|retained_intron|CODING|ENST00000575894||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 707223 Proband 14 T G . . Gene=WDR90;MT=SNP;MM=CM;CADD=22.6;VMM=54.49;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||1750|WDR90|protein_coding|CODING|ENST00000549091|20|G),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000552943|17|G),SPLICE_SITE_DONOR+INTRON(HIGH||||1748|WDR90|protein_coding|CODING|ENST00000293879|20|G),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000546516|6|G),SPLICE_SITE_DONOR+INTRON(HIGH|||||WDR90|retained_intron|CODING|ENST00000547407|3|G),SPLICE_SITE_DONOR+INTRON(HIGH||||475|WDR90|nonsense_mediated_decay|CODING|ENST00000552728|3|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1029|||LA16c-349E10.1|antisense|NON_CODING|ENST00000573609||G),UPSTREAM(MODIFIER||635|||WDR90|retained_intron|CODING|ENST00000552683||G),UPSTREAM(MODIFIER||1337|||WDR90|processed_transcript|CODING|ENST00000548844||G),UPSTREAM(MODIFIER||2022||131|WDR90|protein_coding|CODING|ENST00000550739||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3842|||WDR90|retained_intron|CODING|ENST00000549024||G),UPSTREAM(MODIFIER||4365|||WDR90|retained_intron|CODING|ENST00000550902||G),UPSTREAM(MODIFIER||4509|||WDR90|retained_intron|CODING|ENST00000546923||G),DOWNSTREAM(MODIFIER||1022|||WDR90|retained_intron|CODING|ENST00000420061||G),DOWNSTREAM(MODIFIER||1022|||WDR90|retained_intron|CODING|ENST00000549648||G),DOWNSTREAM(MODIFIER||3753|||WDR90|retained_intron|CODING|ENST00000550593||G),DOWNSTREAM(MODIFIER||100|||WDR90|processed_transcript|CODING|ENST00000552648||G),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000548859|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 74338238 Proband 14 C A . . Gene=PSMD7;MT=SNP;MM=CM;CADD=24.6;VMM=39.22;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||324|PSMD7|protein_coding|CODING||6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T159N|324|PSMD7|protein_coding|CODING|ENST00000219313|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T82N|247|PSMD7|protein_coding|CODING|ENST00000540379|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T159N|198|PSMD7|protein_coding|CODING|ENST00000567958|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T159N|177|PSMD7|protein_coding|CODING|ENST00000568615|6|A),UTR_3_PRIME(MODIFIER||4707||43|PSMD7|nonsense_mediated_decay|CODING|ENST00000568717|7|A),DOWNSTREAM(MODIFIER||862|||AC009120.6|antisense|NON_CODING|ENST00000566411||A),DOWNSTREAM(MODIFIER||3863|||PSMD7|retained_intron|CODING|ENST00000566015||A),DOWNSTREAM(MODIFIER||916|||AC009120.6|antisense|NON_CODING|ENST00000565313||A),EXON(MODIFIER|||||PSMD7|retained_intron|CODING|ENST00000563150|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 74339364 Proband 14 G A . . Gene=PSMD7;MT=SNP;MM=CM;CADD=14.08;VMM=39.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C184Y|198|PSMD7|protein_coding|CODING|ENST00000567958|7|A),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L236|324|PSMD7|protein_coding|CODING|ENST00000219313|7|A),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L159|247|PSMD7|protein_coding|CODING|ENST00000540379|8|A),UTR_3_PRIME(MODIFIER||5833||43|PSMD7|nonsense_mediated_decay|CODING|ENST00000568717|8|A),DOWNSTREAM(MODIFIER||4989|||PSMD7|retained_intron|CODING|ENST00000566015||A),DOWNSTREAM(MODIFIER||757||177|PSMD7|protein_coding|CODING|ENST00000568615||A),DOWNSTREAM(MODIFIER||4634|||AC009120.6|antisense|NON_CODING|ENST00000561921||A),EXON(MODIFIER|||||AC009120.6|antisense|NON_CODING|ENST00000566411|2|A),EXON(MODIFIER|||||PSMD7|retained_intron|CODING|ENST00000563150|2|A),EXON(MODIFIER|||||AC009120.6|antisense|NON_CODING|ENST00000565313|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 72773498 Proband 14 A G . . Gene=TMEM104;MT=SNP;MM=CM;CADD=23.2;VMM=31.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E10G|496|TMEM104|protein_coding|CODING|ENST00000335464|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E10G|327|TMEM104|protein_coding|CODING|ENST00000417024|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E10G|128|TMEM104|protein_coding|CODING|ENST00000578764|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E10G|314|TMEM104|protein_coding|CODING|ENST00000582773|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E10G|496|TMEM104|protein_coding|CODING|ENST00000582330|2|G),UPSTREAM(MODIFIER||1061||212|NAT9|protein_coding|CODING|ENST00000578822||G),UPSTREAM(MODIFIER||1028||207|NAT9|protein_coding|CODING|ENST00000357814||G),UPSTREAM(MODIFIER||1020||206|NAT9|protein_coding|CODING|ENST00000580301||G),UPSTREAM(MODIFIER||1036|||NAT9|retained_intron|CODING|ENST00000583834||G),UPSTREAM(MODIFIER||1035||202|NAT9|protein_coding|CODING|ENST00000581136||G),UPSTREAM(MODIFIER||1652||207|NAT9|protein_coding|CODING|ENST00000580632||G),UPSTREAM(MODIFIER||4890|||NAT9|retained_intron|CODING|ENST00000581762||G),UPSTREAM(MODIFIER||1036||211|NAT9|protein_coding|CODING|ENST00000582870||G),UPSTREAM(MODIFIER||1028||156|NAT9|nonsense_mediated_decay|CODING|ENST00000584022||G),UPSTREAM(MODIFIER||1017||139|NAT9|protein_coding|CODING|ENST00000583757||G),UPSTREAM(MODIFIER||994||140|NAT9|protein_coding|CODING|ENST00000582524||G),UPSTREAM(MODIFIER||1022||135|NAT9|protein_coding|CODING|ENST00000583476||G),UPSTREAM(MODIFIER||1028||182|NAT9|protein_coding|CODING|ENST00000579218||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1008|||NAT9|retained_intron|CODING|ENST00000578798||G),UPSTREAM(MODIFIER||1022|||NAT9|retained_intron|CODING|ENST00000578862||G),UPSTREAM(MODIFIER||1055|||NAT9|processed_transcript|CODING|ENST00000580216||G),UPSTREAM(MODIFIER||1014|||NAT9|processed_transcript|CODING|ENST00000583989||G),UPSTREAM(MODIFIER||3260||81|NAT9|protein_coding|CODING|ENST00000581466||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||998|||NAT9|processed_transcript|CODING|ENST00000577428||G),UPSTREAM(MODIFIER||992|||NAT9|processed_transcript|CODING|ENST00000584409||G),UPSTREAM(MODIFIER||1014|||NAT9|processed_transcript|CODING|ENST00000585240||G),UPSTREAM(MODIFIER||1036|||NAT9|retained_intron|CODING|ENST00000582359||G),UPSTREAM(MODIFIER||992|||NAT9|retained_intron|CODING|ENST00000583689||G),UPSTREAM(MODIFIER||1266||108|NAT9|protein_coding|CODING|ENST00000578947||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1008|||NAT9|retained_intron|CODING|ENST00000582168||G),UPSTREAM(MODIFIER||992|||NAT9|retained_intron|CODING|ENST00000582993||G),UPSTREAM(MODIFIER||1014|||NAT9|retained_intron|CODING|ENST00000582118||G),UPSTREAM(MODIFIER||1231||55|NAT9|protein_coding|CODING|ENST00000581451||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1023|||NAT9|retained_intron|CODING|ENST00000579837||G),EXON(MODIFIER|||||TMEM104|retained_intron|CODING|ENST00000584246|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 72791739 Proband 14 C G . . Gene=TMEM104;MT=SNP;MM=CM;CADD=12.38;VMM=31.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L202V|496|TMEM104|protein_coding|CODING|ENST00000335464|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L215V|327|TMEM104|protein_coding|CODING|ENST00000417024|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L202V|314|TMEM104|protein_coding|CODING|ENST00000582773|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L202V|496|TMEM104|protein_coding|CODING|ENST00000582330|8|G),DOWNSTREAM(MODIFIER||11||128|TMEM104|protein_coding|CODING|ENST00000578764||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 55858768 Proband 14 T G . . Gene=SUV420H2;MT=SNP;MM=CM;CADD=26.3;VMM=30.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V447G|462|SUV420H2|protein_coding|CODING|ENST00000255613|9|G),UTR_3_PRIME(MODIFIER||3647||97|SUV420H2|nonsense_mediated_decay|CODING|ENST00000445196|8|G),DOWNSTREAM(MODIFIER||2207||129|AC020922.1|protein_coding|CODING|ENST00000539076||G),DOWNSTREAM(MODIFIER||2302||88|COX6B2|protein_coding|CODING|ENST00000326529||G),DOWNSTREAM(MODIFIER||4901||471|CTD-2105E13.6|nonsense_mediated_decay|CODING|ENST00000591954||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3582|||SUV420H2|retained_intron|CODING|ENST00000589338||G),DOWNSTREAM(MODIFIER||4615|||SUV420H2|retained_intron|CODING|ENST00000498738||G),DOWNSTREAM(MODIFIER||2207|||SUV420H2|processed_transcript|CODING|ENST00000402499||G),DOWNSTREAM(MODIFIER||3021|||SUV420H2|retained_intron|CODING|ENST00000464185||G),DOWNSTREAM(MODIFIER||669||97|SUV420H2|nonsense_mediated_decay|CODING|ENST00000592631||G),DOWNSTREAM(MODIFIER||3229|||SUV420H2|retained_intron|CODING|ENST00000468951||G),DOWNSTREAM(MODIFIER||725|||SUV420H2|processed_transcript|CODING|ENST00000460956||G),DOWNSTREAM(MODIFIER||791|||SUV420H2|processed_transcript|CODING|ENST00000587442||G),DOWNSTREAM(MODIFIER||184|||SUV420H2|retained_intron|CODING|ENST00000474492||G),DOWNSTREAM(MODIFIER||1906||88|COX6B2|protein_coding|CODING|ENST00000588572||G),DOWNSTREAM(MODIFIER||2308||88|COX6B2|protein_coding|CODING|ENST00000593184||G),DOWNSTREAM(MODIFIER||3013||88|COX6B2|protein_coding|CODING|ENST00000590900||G),DOWNSTREAM(MODIFIER||4357|||COX6B2|processed_transcript|CODING|ENST00000589879||G),DOWNSTREAM(MODIFIER||4607|||COX6B2|processed_transcript|CODING|ENST00000588586||G),DOWNSTREAM(MODIFIER||4779|||COX6B2|processed_transcript|CODING|ENST00000586191||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 55859767 Proband 14 C T . . Gene=SUV420H2;MT=SNP;MM=CM;CADD=10.9;VMM=30.43;EFF=DOWNSTREAM(MODIFIER||279||462|SUV420H2|protein_coding|CODING|ENST00000255613||T),DOWNSTREAM(MODIFIER||3206||129|AC020922.1|protein_coding|CODING|ENST00000539076||T),DOWNSTREAM(MODIFIER||1303||88|COX6B2|protein_coding|CODING|ENST00000326529||T),DOWNSTREAM(MODIFIER||3902||471|CTD-2105E13.6|nonsense_mediated_decay|CODING|ENST00000591954||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4581|||SUV420H2|retained_intron|CODING|ENST00000589338||T),DOWNSTREAM(MODIFIER||3206|||SUV420H2|processed_transcript|CODING|ENST00000402499||T),DOWNSTREAM(MODIFIER||279||97|SUV420H2|nonsense_mediated_decay|CODING|ENST00000445196||T),DOWNSTREAM(MODIFIER||4020|||SUV420H2|retained_intron|CODING|ENST00000464185||T),DOWNSTREAM(MODIFIER||1668||97|SUV420H2|nonsense_mediated_decay|CODING|ENST00000592631||T),DOWNSTREAM(MODIFIER||4228|||SUV420H2|retained_intron|CODING|ENST00000468951||T),DOWNSTREAM(MODIFIER||1724|||SUV420H2|processed_transcript|CODING|ENST00000460956||T),DOWNSTREAM(MODIFIER||1790|||SUV420H2|processed_transcript|CODING|ENST00000587442||T),DOWNSTREAM(MODIFIER||1183|||SUV420H2|retained_intron|CODING|ENST00000474492||T),DOWNSTREAM(MODIFIER||907||88|COX6B2|protein_coding|CODING|ENST00000588572||T),DOWNSTREAM(MODIFIER||1309||88|COX6B2|protein_coding|CODING|ENST00000593184||T),DOWNSTREAM(MODIFIER||2014||88|COX6B2|protein_coding|CODING|ENST00000590900||T),DOWNSTREAM(MODIFIER||3358|||COX6B2|processed_transcript|CODING|ENST00000589879||T),DOWNSTREAM(MODIFIER||3608|||COX6B2|processed_transcript|CODING|ENST00000588586||T),DOWNSTREAM(MODIFIER||3780|||COX6B2|processed_transcript|CODING|ENST00000586191||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 32358084 Proband 14 C A . . Gene=ZNF341;MT=SNP;MM=CM;CADD=19.15;VMM=58.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D536E|854|ZNF341|protein_coding|CODING|ENST00000375200|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D529E|847|ZNF341|protein_coding|CODING|ENST00000342427|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D536E|604|ZNF341|nonsense_mediated_decay|CODING|ENST00000483118|10|A),UTR_3_PRIME(MODIFIER||21279||72|ZNF341|nonsense_mediated_decay|CODING|ENST00000497876|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 32378992 Proband 14 G A . . Gene=ZNF341;MT=SNP;MM=CM;CADD=24.9;VMM=58.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|854|ZNF341|protein_coding|CODING|ENST00000375200|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R738Q|847|ZNF341|protein_coding|CODING|ENST00000342427|15|A),UTR_3_PRIME(MODIFIER||42187||72|ZNF341|nonsense_mediated_decay|CODING|ENST00000497876|14|A),UTR_3_PRIME(MODIFIER||2264||604|ZNF341|nonsense_mediated_decay|CODING|ENST00000483118|14|A),INTRON(MODIFIER|||||RP4-553F4.6|antisense|NON_CODING|ENST00000443171|3|A),INTRON(MODIFIER|||||RP4-553F4.6|antisense|NON_CODING|ENST00000423074|1|A),INTRON(MODIFIER|||||RP4-553F4.6|antisense|NON_CODING|ENST00000439444|3|A),EXON(MODIFIER|||||ZNF341|retained_intron|CODING|ENST00000493497|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 14297224 Proband 14 G A . . Gene=TRIO;MT=SNP;MM=CM;CADD=34;VMM=52.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R407H|3097|TRIO|protein_coding|CODING|ENST00000344204|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R407H|2921|TRIO|protein_coding|CODING|ENST00000537187|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R348H|2309|TRIO|nonsense_mediated_decay|CODING|ENST00000512070|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R358H|1508|TRIO|protein_coding|CODING|ENST00000509967|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R140H|2546|TRIO|protein_coding|CODING|ENST00000513206|3|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000504606|3|A),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000515144|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 14406068 Proband 14 A C . . Gene=TRIO;MT=SNP;MM=CM;CADD=13.44;VMM=52.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T1610P|3097|TRIO|protein_coding|CODING|ENST00000344204|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T1610P|2921|TRIO|protein_coding|CODING|ENST00000537187|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T1551P|2309|TRIO|nonsense_mediated_decay|CODING|ENST00000512070|32|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T1343P|2546|TRIO|protein_coding|CODING|ENST00000513206|28|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||255|||TRIO|retained_intron|CODING|ENST00000512303||C),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000515144|27|C),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000509354|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136582401 Proband 14 A T . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=22.2;VMM=73.12;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||920|BCLAF1|protein_coding|CODING|ENST00000531224|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000353331|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH||||871|BCLAF1|protein_coding|CODING|ENST00000527536|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|T),SPLICE_SITE_DONOR+INTRON(HIGH||||747|BCLAF1|protein_coding|CODING|ENST00000530767|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||918|BCLAF1|protein_coding|CODING|ENST00000527759|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|T),SPLICE_SITE_DONOR+INTRON(HIGH||||138|BCLAF1|protein_coding|CODING|ENST00000031135|4|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||186|BCLAF1|protein_coding|CODING|ENST00000534762|4|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000392348|9|T),DOWNSTREAM(MODIFIER||38|||BCLAF1|retained_intron|CODING|ENST00000526228||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136599880 Proband 14 G A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=25.4;VMM=73.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|920|BCLAF1|protein_coding|CODING|ENST00000531224|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R45C|869|BCLAF1|protein_coding|CODING|ENST00000353331|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|871|BCLAF1|protein_coding|CODING|ENST00000527536|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|747|BCLAF1|protein_coding|CODING|ENST00000530767|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R45C|918|BCLAF1|protein_coding|CODING|ENST00000527759|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R45C|467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R45C|750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R45C|869|BCLAF1|protein_coding|CODING|ENST00000392348|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R47C|724|BCLAF1|protein_coding|CODING|ENST00000529826|4|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||639||118|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533621||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||741|||BCLAF1|retained_intron|CODING|ENST00000528229||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 38916544 Proband 15 G C . . Gene=FAM114A1;MT=SNP;MM=DN;CADD=22.5;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atC|M265I|563|FAM114A1|protein_coding|CODING|ENST00000358869|8|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atC|M58I|356|FAM114A1|protein_coding|CODING|ENST00000515037|6|C),EXON(MODIFIER|||||FAM114A1|retained_intron|CODING|ENST00000512889|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 74235424 Proband 15 G A . . Gene=RDH10;MT=SNP;MM=DN;CADD=16.21;VMM=0;EFF=UTR_3_PRIME(MODIFIER||153||341|RDH10|protein_coding|CODING|ENST00000240285|6|A),DOWNSTREAM(MODIFIER||2201||61|RDH10|protein_coding|CODING|ENST00000521928||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||90||176|RDH10|protein_coding|CODING|ENST00000519380||A),INTRON(MODIFIER|||||RP11-434I12.2|antisense|NON_CODING|ENST00000514599|3|A),INTRON(MODIFIER|||||RP11-434I12.2|antisense|NON_CODING|ENST00000517475|3|A),EXON(MODIFIER|||||RDH10|retained_intron|CODING|ENST00000521013|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 77041838 Proband 15 C A . . Gene=ATRX;MT=SNP;MM=XL;CADD=19.13;VMM=0;EFF=UPSTREAM(MODIFIER||136||2492|ATRX|protein_coding|CODING|ENST00000373344||A),UPSTREAM(MODIFIER||136||2454|ATRX|protein_coding|CODING|ENST00000395603||A),UPSTREAM(MODIFIER||136|||ATRX|processed_transcript|CODING|ENST00000480283||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 159907232 Proband 15 T A . . Gene=IGSF9;MT=SNP;MM=CM;CADD=16.57;VMM=46.65;EFF=UPSTREAM(MODIFIER||4973|||IGSF9|processed_transcript|CODING|ENST00000496645||A),UPSTREAM(MODIFIER||3508|||IGSF9|processed_transcript|CODING|ENST00000493195||A),INTRON(MODIFIER||||1179|IGSF9|protein_coding|CODING|ENST00000368094|4|A),INTRON(MODIFIER|||||IGSF9|processed_transcript|CODING|ENST00000476102|4|A),INTRON(MODIFIER||||1163|IGSF9|protein_coding|CODING|ENST00000361509|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 159907619 Proband 15 C T . . Gene=IGSF9;MT=SNP;MM=CM;CADD=23.9;VMM=46.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R86Q|1179|IGSF9|protein_coding|CODING|ENST00000368094|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R86Q|1163|IGSF9|protein_coding|CODING|ENST00000361509|4|T),UPSTREAM(MODIFIER||3895|||IGSF9|processed_transcript|CODING|ENST00000493195||T),EXON(MODIFIER|||||IGSF9|processed_transcript|CODING|ENST00000476102|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 98157017 Proband 15 G A . . Gene=TLL2;MT=SNP;MM=CM;CADD=26.2;VMM=86.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T437M|1015|TLL2|protein_coding|CODING|ENST00000357947|11|A),EXON(MODIFIER|||||TLL2|processed_transcript|CODING|ENST00000469598|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 98172999 Proband 15 C T . . Gene=TLL2;MT=SNP;MM=CM;CADD=24.5;VMM=86.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R333Q|1015|TLL2|protein_coding|CODING|ENST00000357947|8|T),EXON(MODIFIER|||||TLL2|processed_transcript|CODING|ENST00000469598|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 107385012 Proband 15 C G . . Gene=CRY1;MT=SNP;MM=CM;CADD=14.88;VMM=32.13;EFF=UPSTREAM(MODIFIER||4068||385|MTERFD3|protein_coding|CODING|ENST00000240050||G),UPSTREAM(MODIFIER||4085||385|MTERFD3|protein_coding|CODING|ENST00000392830||G),UPSTREAM(MODIFIER||4108||385|MTERFD3|protein_coding|CODING|ENST00000552029||G),UPSTREAM(MODIFIER||4144||177|MTERFD3|protein_coding|CODING|ENST00000548101||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4112||32|MTERFD3|protein_coding|CODING|ENST00000550496||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4074|||MTERFD3|processed_transcript|CODING|ENST00000547115||G),DOWNSTREAM(MODIFIER||130||586|CRY1|protein_coding|CODING|ENST00000008527||G),DOWNSTREAM(MODIFIER||133|||CRY1|retained_intron|CODING|ENST00000552790||G),DOWNSTREAM(MODIFIER||1253||106|CRY1|protein_coding|CODING|ENST00000549356||G|WARNING_TRANSCRIPT_NO_START_CODON),INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 107385454 Proband 15 T G . . Gene=CRY1;MT=SNP;MM=CM;CADD=19.27;VMM=32.13;EFF=UTR_3_PRIME(MODIFIER||1111||586|CRY1|protein_coding|CODING|ENST00000008527|13|G),UPSTREAM(MODIFIER||4510||385|MTERFD3|protein_coding|CODING|ENST00000240050||G),UPSTREAM(MODIFIER||4527||385|MTERFD3|protein_coding|CODING|ENST00000392830||G),UPSTREAM(MODIFIER||4550||385|MTERFD3|protein_coding|CODING|ENST00000552029||G),UPSTREAM(MODIFIER||4586||177|MTERFD3|protein_coding|CODING|ENST00000548101||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4554||32|MTERFD3|protein_coding|CODING|ENST00000550496||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4516|||MTERFD3|processed_transcript|CODING|ENST00000547115||G),DOWNSTREAM(MODIFIER||811||106|CRY1|protein_coding|CODING|ENST00000549356||G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CRY1|retained_intron|CODING|ENST00000552790|13|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 160664679 Proband 15 C T . . Gene=SLC22A2;MT=SNP;MM=CM;CADD=27.1;VMM=87.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G402R|555|SLC22A2|protein_coding|CODING|ENST00000366953|7|T),DOWNSTREAM(MODIFIER||538||334|SLC22A2|protein_coding|CODING|ENST00000366952||T),EXON(MODIFIER|||||SLC22A2|processed_transcript|CODING|ENST00000486916|2|T),EXON(MODIFIER|||||SLC22A2|processed_transcript|CODING|ENST00000491092|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 160679476 Proband 15 T G . . Gene=SLC22A2;MT=SNP;MM=CM;CADD=23.8;VMM=87.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D105A|555|SLC22A2|protein_coding|CODING|ENST00000366953|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D84A|334|SLC22A2|protein_coding|CODING|ENST00000366952|3|G),EXON(MODIFIER|||||SLC22A2|processed_transcript|CODING|ENST00000491092|1|G),EXON(MODIFIER|||||SLC22A2|processed_transcript|CODING|ENST00000489644|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 13150667 Proband 15 G A . . Gene=MPDZ;MT=SNP;MM=CM;CADD=25.2;VMM=47.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1172L|2084|MPDZ|protein_coding|CODING|ENST00000546205|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2070|MPDZ|protein_coding|CODING|ENST00000319217|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2041|MPDZ|protein_coding|CODING|ENST00000541718|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2041|MPDZ|protein_coding|CODING|ENST00000381022|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P164L|1006|MPDZ|protein_coding|CODING|ENST00000545857|5|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P50L|929|MPDZ|protein_coding|CODING|ENST00000538841|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2008|MPDZ|protein_coding|CODING|ENST00000536827|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2070|MPDZ|protein_coding|CODING|ENST00000381015|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P1158L|2037|MPDZ|protein_coding|CODING|ENST00000447879|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P50L|190|MPDZ|protein_coding|CODING|ENST00000433359|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P50L|127|MPDZ|protein_coding|CODING|ENST00000542239|4|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||MPDZ|retained_intron|CODING|ENST00000319198|2|A),EXON(MODIFIER|||||MPDZ|retained_intron|CODING|ENST00000539508|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 13219603 Proband 15 C G . . Gene=MPDZ;MT=SNP;MM=CM;CADD=16.07;VMM=47.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2084|MPDZ|protein_coding|CODING|ENST00000546205|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2070|MPDZ|protein_coding|CODING|ENST00000319217|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2041|MPDZ|protein_coding|CODING|ENST00000541718|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2041|MPDZ|protein_coding|CODING|ENST00000381022|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2008|MPDZ|protein_coding|CODING|ENST00000536827|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2070|MPDZ|protein_coding|CODING|ENST00000381015|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L347F|2037|MPDZ|protein_coding|CODING|ENST00000447879|7|G),INTRON(MODIFIER||||29|MPDZ|nonsense_mediated_decay|CODING|ENST00000494251|1|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 27901537 Proband 16 C A . . Gene=GIT1;MT=SNP;MM=DN;CADD=18.67;VMM=0;EFF=UTR_3_PRIME(MODIFIER||183||770|GIT1|protein_coding|CODING|ENST00000394869|21|A),UTR_3_PRIME(MODIFIER||183||761|GIT1|protein_coding|CODING|ENST00000225394|20|A),UTR_3_PRIME(MODIFIER||183||747|GIT1|protein_coding|CODING|ENST00000581348|21|A),UTR_3_PRIME(MODIFIER||431||694|GIT1|protein_coding|CODING|ENST00000579937|20|A),UTR_3_PRIME(MODIFIER||772||148|GIT1|nonsense_mediated_decay|CODING|ENST00000578670|5|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1362||393|TP53I13|protein_coding|CODING|ENST00000301057||A),DOWNSTREAM(MODIFIER||4000|||RP11-68I3.4|sense_intronic|NON_CODING|ENST00000579050||A),DOWNSTREAM(MODIFIER||2817||72|TP53I13|protein_coding|CODING|ENST00000583940||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2260||184|TP53I13|protein_coding|CODING|ENST00000580183||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2231||194|TP53I13|protein_coding|CODING|ENST00000578749||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2290||174|TP53I13|protein_coding|CODING|ENST00000582829||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2212||91|TP53I13|nonsense_mediated_decay|CODING|ENST00000577934||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2346||155|TP53I13|protein_coding|CODING|ENST00000581411||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1363|||TP53I13|retained_intron|CODING|ENST00000579674||A),DOWNSTREAM(MODIFIER||1362||112|TP53I13|protein_coding|CODING|ENST00000378818||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||467||177|GIT1|protein_coding|CODING|ENST00000578266||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1296|||GIT1|retained_intron|CODING|ENST00000491377||A),DOWNSTREAM(MODIFIER||1861||227|GIT1|protein_coding|CODING|ENST00000585148||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2369|||GIT1|retained_intron|CODING|ENST00000586574||A),DOWNSTREAM(MODIFIER||2369|||GIT1|retained_intron|CODING|ENST00000581925||A),INTRON(MODIFIER|||||RP11-68I3.2|antisense|NON_CODING|ENST00000581474|1|A),EXON(MODIFIER|||||GIT1|retained_intron|CODING|ENST00000473217|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 131803196 Proband 16 C T . . Gene=HS6ST2;MT=SNP;MM=XL;CADD=22;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A338T|645|HS6ST2|protein_coding|CODING|ENST00000521489|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A192T|462|HS6ST2|protein_coding|CODING|ENST00000370833|3|T),INTRON(MODIFIER|||||HS6ST2-AS1|antisense|NON_CODING|ENST00000455269|2|T),INTRON(MODIFIER||||605|HS6ST2|protein_coding|CODING|ENST00000370836|3|T),INTRON(MODIFIER||||331|HS6ST2|protein_coding|CODING|ENST00000406696|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677052 Proband 16 G C . . Gene=PPFIBP1;MT=SNP;MM=CM;CADD=15.97;VMM=44.74;EFF=UPSTREAM(MODIFIER||87||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||C),UPSTREAM(MODIFIER||23||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||39||109|PPFIBP1|protein_coding|CODING|ENST00000545334||C),UPSTREAM(MODIFIER||54||743|PPFIBP1|protein_coding|CODING|ENST00000540114||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||55|||PPFIBP1|processed_transcript|CODING|ENST00000541633||C),UPSTREAM(MODIFIER||63||858|PPFIBP1|protein_coding|CODING|ENST00000537927||C),UPSTREAM(MODIFIER||101||170|PPFIBP1|protein_coding|CODING|ENST00000535047||C),UPSTREAM(MODIFIER||105||980|PPFIBP1|protein_coding|CODING|ENST00000542629||C),UPSTREAM(MODIFIER||137||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||C),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27841260 Proband 16 G C . . Gene=PPFIBP1;MT=SNP;MM=CM;CADD=24;VMM=44.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K806N|1011|PPFIBP1|protein_coding|CODING|ENST00000318304|25|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K637N|743|PPFIBP1|protein_coding|CODING|ENST00000540114|22|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K653N|858|PPFIBP1|protein_coding|CODING|ENST00000537927|23|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K775N|980|PPFIBP1|protein_coding|CODING|ENST00000542629|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K800N|1005|PPFIBP1|protein_coding|CODING|ENST00000228425|26|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K36N|241|PPFIBP1|protein_coding|CODING|ENST00000539326|2|C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PPFIBP1|retained_intron|CODING|ENST00000540256|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24661578 Proband 16 G A . . Gene=TM9SF1;MT=SNP;MM=CM;CADD=12.39;VMM=32.83;EFF=UPSTREAM(MODIFIER||3408||1081|IPO4|protein_coding|CODING|ENST00000354464||A),UPSTREAM(MODIFIER||1956||142|RP11-468E2.2|nonsense_mediated_decay|CODING|ENST00000561419||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3550|||IPO4|retained_intron|CODING|ENST00000561090||A),UPSTREAM(MODIFIER||3575|||IPO4|retained_intron|CODING|ENST00000560798||A),UPSTREAM(MODIFIER||3550||101|IPO4|nonsense_mediated_decay|CODING|ENST00000558780||A),UPSTREAM(MODIFIER||3575||154|IPO4|nonsense_mediated_decay|CODING|ENST00000558046||A),UPSTREAM(MODIFIER||3503|||IPO4|retained_intron|CODING|ENST00000559588||A),UPSTREAM(MODIFIER||3503||911|IPO4|nonsense_mediated_decay|CODING|ENST00000560155||A),UPSTREAM(MODIFIER||3575|||IPO4|retained_intron|CODING|ENST00000561199||A),UPSTREAM(MODIFIER||3528||98|IPO4|nonsense_mediated_decay|CODING|ENST00000559253||A),UPSTREAM(MODIFIER||4303|||IPO4|retained_intron|CODING|ENST00000559635||A),UPSTREAM(MODIFIER||3575|||IPO4|retained_intron|CODING|ENST00000558718||A),UPSTREAM(MODIFIER||3551|||IPO4|retained_intron|CODING|ENST00000558193||A),UPSTREAM(MODIFIER||3575|||IPO4|retained_intron|CODING|ENST00000560315||A),UPSTREAM(MODIFIER||3550||48|IPO4|nonsense_mediated_decay|CODING|ENST00000561034||A),UPSTREAM(MODIFIER||3575|||IPO4|retained_intron|CODING|ENST00000557996||A),UPSTREAM(MODIFIER||3561|||IPO4|retained_intron|CODING|ENST00000560222||A),DOWNSTREAM(MODIFIER||341||299|TM9SF1|protein_coding|CODING|ENST00000528895||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||359||206|TM9SF1|protein_coding|CODING|ENST00000530563||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||471||256|TM9SF1|protein_coding|CODING|ENST00000530468||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||516||241|TM9SF1|protein_coding|CODING|ENST00000525592||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||613||209|TM9SF1|protein_coding|CODING|ENST00000528010||A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||815|TM9SF1|protein_coding|CODING|ENST00000530611|7|A),INTRON(MODIFIER||||815|TM9SF1|protein_coding|CODING|ENST00000556387|7|A),INTRON(MODIFIER||||606|TM9SF1|protein_coding|CODING|ENST00000261789|3|A),INTRON(MODIFIER||||589|TM9SF1|protein_coding|CODING|ENST00000528669|2|A),INTRON(MODIFIER||||420|TM9SF1|nonsense_mediated_decay|CODING|ENST00000529332|3|A),INTRON(MODIFIER||||519|TM9SF1|protein_coding|CODING|ENST00000524835|3|A),INTRON(MODIFIER||||132|TM9SF1|protein_coding|CODING|ENST00000532632|2|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||489|TM9SF1|protein_coding|CODING|ENST00000396854|3|A),INTRON(MODIFIER|||||TM9SF1|retained_intron|CODING|ENST00000531406|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24662296 Proband 16 T C . . Gene=TM9SF1;MT=SNP;MM=CM;CADD=24.2;VMM=32.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I384M|815|TM9SF1|protein_coding|CODING|ENST00000530611|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I384M|815|TM9SF1|protein_coding|CODING|ENST00000556387|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|606|TM9SF1|protein_coding|CODING|ENST00000261789|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|589|TM9SF1|protein_coding|CODING|ENST00000528669|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|420|TM9SF1|nonsense_mediated_decay|CODING|ENST00000529332|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I88M|519|TM9SF1|protein_coding|CODING|ENST00000524835|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|489|TM9SF1|protein_coding|CODING|ENST00000396854|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|299|TM9SF1|protein_coding|CODING|ENST00000528895|3|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I88M|206|TM9SF1|protein_coding|CODING|ENST00000530563|3|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|256|TM9SF1|protein_coding|CODING|ENST00000530468|3|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|241|TM9SF1|protein_coding|CODING|ENST00000525592|3|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I175M|209|TM9SF1|protein_coding|CODING|ENST00000528010|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4126||1081|IPO4|protein_coding|CODING|ENST00000354464||C),UPSTREAM(MODIFIER||2674||142|RP11-468E2.2|nonsense_mediated_decay|CODING|ENST00000561419||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4268|||IPO4|retained_intron|CODING|ENST00000561090||C),UPSTREAM(MODIFIER||4293|||IPO4|retained_intron|CODING|ENST00000560798||C),UPSTREAM(MODIFIER||4268||101|IPO4|nonsense_mediated_decay|CODING|ENST00000558780||C),UPSTREAM(MODIFIER||4293||154|IPO4|nonsense_mediated_decay|CODING|ENST00000558046||C),UPSTREAM(MODIFIER||4221|||IPO4|retained_intron|CODING|ENST00000559588||C),UPSTREAM(MODIFIER||4221||911|IPO4|nonsense_mediated_decay|CODING|ENST00000560155||C),UPSTREAM(MODIFIER||4293|||IPO4|retained_intron|CODING|ENST00000561199||C),UPSTREAM(MODIFIER||4246||98|IPO4|nonsense_mediated_decay|CODING|ENST00000559253||C),UPSTREAM(MODIFIER||4293|||IPO4|retained_intron|CODING|ENST00000558718||C),UPSTREAM(MODIFIER||4269|||IPO4|retained_intron|CODING|ENST00000558193||C),UPSTREAM(MODIFIER||4293|||IPO4|retained_intron|CODING|ENST00000560315||C),UPSTREAM(MODIFIER||4268||48|IPO4|nonsense_mediated_decay|CODING|ENST00000561034||C),UPSTREAM(MODIFIER||4293|||IPO4|retained_intron|CODING|ENST00000557996||C),UPSTREAM(MODIFIER||4279|||IPO4|retained_intron|CODING|ENST00000560222||C),INTRON(MODIFIER||||132|TM9SF1|protein_coding|CODING|ENST00000532632|2|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||TM9SF1|retained_intron|CODING|ENST00000531406|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 89809329 Proband 16 G T . . Gene=FANCA;MT=SNP;MM=CM;CADD=15.2;VMM=40.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A1215D|1455|FANCA|protein_coding|CODING|ENST00000389301|37|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A1215D|1424|FANCA|protein_coding|CODING|ENST00000568369|37|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A41D|214|FANCA|protein_coding|CODING|ENST00000567879|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||6972||108|FANCA|nonsense_mediated_decay|CODING|ENST00000567988|9|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2843||195|FANCA|protein_coding|CODING|ENST00000561722||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3163|||FANCA|retained_intron|CODING|ENST00000562424||T),UPSTREAM(MODIFIER||27||239|FANCA|protein_coding|CODING|ENST00000564475||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||93||151|FANCA|protein_coding|CODING|ENST00000564870||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4350||614|ZNF276|protein_coding|CODING|ENST00000443381||T),DOWNSTREAM(MODIFIER||4640||400|ZNF276|protein_coding|CODING|ENST00000446326||T),DOWNSTREAM(MODIFIER||4640||280|ZNF276|nonsense_mediated_decay|CODING|ENST00000562530||T),DOWNSTREAM(MODIFIER||2018||539|ZNF276|protein_coding|CODING|ENST00000289816||T),DOWNSTREAM(MODIFIER||4401||433|ZNF276|protein_coding|CODING|ENST00000568064||T),DOWNSTREAM(MODIFIER||3105|||ZNF276|retained_intron|CODING|ENST00000563983||T),DOWNSTREAM(MODIFIER||4350||355|ZNF276|nonsense_mediated_decay|CODING|ENST00000568295||T),DOWNSTREAM(MODIFIER||4332|||ZNF276|retained_intron|CODING|ENST00000561536||T),DOWNSTREAM(MODIFIER||4351|||ZNF276|retained_intron|CODING|ENST00000564004||T),DOWNSTREAM(MODIFIER||4592|||ZNF276|retained_intron|CODING|ENST00000569901||T),DOWNSTREAM(MODIFIER||1766|||FANCA|retained_intron|CODING|ENST00000568983||T),DOWNSTREAM(MODIFIER||2106||181|FANCA|nonsense_mediated_decay|CODING|ENST00000561660||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||167|FANCA|nonsense_mediated_decay|CODING|ENST00000568626|5|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||FANCA|retained_intron|CODING|ENST00000564969|1|T),EXON(MODIFIER|||||FANCA|retained_intron|CODING|ENST00000305699|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 89874749 Proband 16 C A . . Gene=FANCA;MT=SNP;MM=CM;CADD=23.3;VMM=40.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W183C|1455|FANCA|protein_coding|CODING|ENST00000389301|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W183C|1424|FANCA|protein_coding|CODING|ENST00000568369|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W8C|124|FANCA|nonsense_mediated_decay|CODING|ENST00000567621|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W183C|297|FANCA|protein_coding|CODING|ENST00000389302|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W183C|316|FANCA|protein_coding|CODING|ENST00000563673|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W183C|302|FANCA|protein_coding|CODING|ENST00000534992|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W151C|265|FANCA|protein_coding|CODING|ENST00000543736|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W154C|210|FANCA|nonsense_mediated_decay|CODING|ENST00000565582|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||2655||114|FANCA|nonsense_mediated_decay|CODING|ENST00000563513|6|A),DOWNSTREAM(MODIFIER||2231|||FANCA|retained_intron|CODING|ENST00000567883||A),DOWNSTREAM(MODIFIER||2644||158|FANCA|nonsense_mediated_decay|CODING|ENST00000567943||A),EXON(MODIFIER|||||FANCA|retained_intron|CODING|ENST00000566889|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 35443984 Proband 16 C T . . Gene=ACACA;MT=SNP;MM=CM;CADD=19.1;VMM=30.97;EFF=UTR_3_PRIME(MODIFIER||267||2383|ACACA|protein_coding|CODING|ENST00000353139|56|T),UTR_3_PRIME(MODIFIER||267||2288|ACACA|protein_coding|CODING|ENST00000360679|54|T),UTR_3_PRIME(MODIFIER||267||2346|ACACA|protein_coding|CODING|ENST00000394406|56|T),UTR_3_PRIME(MODIFIER||267||998|ACACA|protein_coding|CODING|ENST00000591119|23|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||267||2268|ACACA|protein_coding|CODING|ENST00000335166|55|T),UTR_3_PRIME(MODIFIER||62911||51|ACACA|nonsense_mediated_decay|CODING|ENST00000587233|14|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||4||95|ACACA|protein_coding|CODING|ENST00000586821|3|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||173|||ACACA|retained_intron|CODING|ENST00000593055||T),DOWNSTREAM(MODIFIER||201||472|ACACA|protein_coding|CODING|ENST00000361253||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 35567544 Proband 16 T C . . Gene=ACACA;MT=SNP;MM=CM;CADD=14.54;VMM=30.97;EFF=UPSTREAM(MODIFIER||4818||998|ACACA|protein_coding|CODING|ENST00000591119||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||2383|ACACA|protein_coding|CODING|ENST00000353139|29|C),INTRON(MODIFIER||||2288|ACACA|protein_coding|CODING|ENST00000360679|27|C),INTRON(MODIFIER||||2346|ACACA|protein_coding|CODING|ENST00000394406|29|C),INTRON(MODIFIER||||2268|ACACA|protein_coding|CODING|ENST00000335166|28|C),INTRON(MODIFIER|||||ACACA|processed_transcript|CODING|ENST00000587598|2|C),INTRON(MODIFIER|||||ACACA|processed_transcript|CODING|ENST00000587720|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 21407513 Proband 16 T C . . Gene=LAMA3;MT=SNP;MM=CM;CADD=16.63;VMM=32.33;EFF=INTRON(MODIFIER||||3333|LAMA3|protein_coding|CODING|ENST00000313654|23|C),INTRON(MODIFIER||||3277|LAMA3|protein_coding|CODING|ENST00000399516|23|C),INTRON(MODIFIER|||||LAMA3|retained_intron|CODING|ENST00000591749|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 21513888 Proband 16 C T . . Gene=LAMA3;MT=SNP;MM=CM;CADD=17.26;VMM=32.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R2951C|3333|LAMA3|protein_coding|CODING|ENST00000313654|67|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R2895C|3277|LAMA3|protein_coding|CODING|ENST00000399516|66|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1342C|1724|LAMA3|protein_coding|CODING|ENST00000269217|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1286C|1668|LAMA3|protein_coding|CODING|ENST00000587184|29|T),DOWNSTREAM(MODIFIER||2365||1146|LAMA3|protein_coding|CODING|ENST00000586751||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2233||94|LAMA3|protein_coding|CODING|ENST00000588164||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1339|||LAMA3|retained_intron|CODING|ENST00000592442||T),EXON(MODIFIER|||||LAMA3|processed_transcript|CODING|ENST00000588770|24|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50815706 Proband 16 G A . . Gene=KCNC3;MT=SNP;MM=CM;CADD=14.33;VMM=31.26;EFF=UTR_3_PRIME(MODIFIER||3626||728|KCNC3|protein_coding|CODING|ENST00000376959|5|A),UTR_3_PRIME(MODIFIER||2313||155|KCNC3|protein_coding|CODING|ENST00000391818|4|A),UTR_3_PRIME(MODIFIER||3626||44|KCNC3|protein_coding|CODING|ENST00000474951|4|A),UPSTREAM(MODIFIER||1910|||CTB-191K22.5|antisense|NON_CODING|ENST00000595563||A),DOWNSTREAM(MODIFIER||1904||2036|MYH14|protein_coding|CODING|ENST00000262269||A),DOWNSTREAM(MODIFIER||3059||757|KCNC3|protein_coding|CODING|ENST00000477616||A),DOWNSTREAM(MODIFIER||2659||2003|MYH14|protein_coding|CODING|ENST00000598205||A),DOWNSTREAM(MODIFIER||1907||2028|MYH14|protein_coding|CODING|ENST00000376970||A),DOWNSTREAM(MODIFIER||1907||2003|MYH14|protein_coding|CODING|ENST00000425460||A),DOWNSTREAM(MODIFIER||1907||2036|MYH14|protein_coding|CODING|ENST00000440075||A),DOWNSTREAM(MODIFIER||1904||2036|MYH14|protein_coding|CODING|ENST00000601313||A),DOWNSTREAM(MODIFIER||2659||1995|MYH14|protein_coding|CODING|ENST00000596571||A),DOWNSTREAM(MODIFIER||1910|||MYH14|retained_intron|CODING|ENST00000595016||A),DOWNSTREAM(MODIFIER||1910|||MYH14|retained_intron|CODING|ENST00000597072||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50819291 Proband 16 T G . . Gene=KCNC3;MT=SNP;MM=CM;CADD=19.57;VMM=31.26;EFF=SPLICE_SITE_REGION(LOW||||728|KCNC3|protein_coding|CODING|ENST00000376959|4|G),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|Agg/Cgg|R80|155|KCNC3|protein_coding|CODING|ENST00000391818|3|G),SPLICE_SITE_REGION(LOW||||44|KCNC3|protein_coding|CODING|ENST00000474951|3|G),UTR_3_PRIME(MODIFIER||4212||757|KCNC3|protein_coding|CODING|ENST00000477616|5|G),UTR_3_PRIME(MODIFIER||41||728|KCNC3|protein_coding|CODING|ENST00000376959|4|G),UTR_3_PRIME(MODIFIER||41||44|KCNC3|protein_coding|CODING|ENST00000474951|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 43564050 Proband 16 G C . . Gene=TTLL12;MT=SNP;MM=CM;CADD=26.4;VMM=99.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D633E|644|TTLL12|protein_coding|CODING|ENST00000216129|14|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D54E|65|TTLL12|protein_coding|CODING|ENST00000494035|4|C),DOWNSTREAM(MODIFIER||4834||169|TSPO|protein_coding|CODING|ENST00000329563||C),DOWNSTREAM(MODIFIER||4802||169|TSPO|protein_coding|CODING|ENST00000337554||C),DOWNSTREAM(MODIFIER||4803||102|TSPO|protein_coding|CODING|ENST00000396265||C),DOWNSTREAM(MODIFIER||4803||65|TSPO|protein_coding|CODING|ENST00000583777||C),EXON(MODIFIER|||||TTLL12|retained_intron|CODING|ENST00000484711|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 43579156 Proband 16 C G . . Gene=TTLL12;MT=SNP;MM=CM;CADD=26.9;VMM=99.04;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||644|TTLL12|protein_coding|CODING|ENST00000216129|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38159314 Proband 16 G A . . Gene=DLEC1;MT=SNP;MM=CM;CADD=10.77;VMM=38.69;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V1501|1778|DLEC1|protein_coding|CODING|ENST00000346219|33|A),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V1504|1758|DLEC1|protein_coding|CODING|ENST00000452631|33|A),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V1501|1755|DLEC1|protein_coding|CODING|ENST00000308059|33|A),DOWNSTREAM(MODIFIER||4887||424|ACAA1|protein_coding|CODING|ENST00000333167||A),DOWNSTREAM(MODIFIER||4887||331|ACAA1|protein_coding|CODING|ENST00000301810||A),DOWNSTREAM(MODIFIER||4887||153|ACAA1|nonsense_mediated_decay|CODING|ENST00000411549||A),DOWNSTREAM(MODIFIER||4893|||ACAA1|retained_intron|CODING|ENST00000469559||A),DOWNSTREAM(MODIFIER||4896|||ACAA1|processed_transcript|CODING|ENST00000480865||A),DOWNSTREAM(MODIFIER||4896||383|ACAA1|protein_coding|CODING|ENST00000450296||A),INTRON(MODIFIER|||||ACAA1|processed_transcript|CODING|ENST00000451419|2|A),EXON(MODIFIER|||||DLEC1|retained_intron|CODING|ENST00000478428|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38163606 Proband 16 C CCAAA . . Gene=DLEC1;MT=INDEL;MM=CM;CADD=34;VMM=38.69;EFF=FRAME_SHIFT(HIGH||cca/cCAAAca|P1692PN?|1758|DLEC1|protein_coding|CODING|ENST00000452631|36|CCAAA),FRAME_SHIFT(HIGH||cca/cCAAAca|P1689PN?|1755|DLEC1|protein_coding|CODING|ENST00000308059|36|CCAAA),DOWNSTREAM(MODIFIER||594||424|ACAA1|protein_coding|CODING|ENST00000333167||CCAAA),DOWNSTREAM(MODIFIER||3176|||Y_RNA|misc_RNA|NON_CODING|ENST00000365095||CCAAA),DOWNSTREAM(MODIFIER||594||331|ACAA1|protein_coding|CODING|ENST00000301810||CCAAA),DOWNSTREAM(MODIFIER||594||153|ACAA1|nonsense_mediated_decay|CODING|ENST00000411549||CCAAA),DOWNSTREAM(MODIFIER||600|||ACAA1|retained_intron|CODING|ENST00000469559||CCAAA),DOWNSTREAM(MODIFIER||603|||ACAA1|processed_transcript|CODING|ENST00000480865||CCAAA),DOWNSTREAM(MODIFIER||603||383|ACAA1|protein_coding|CODING|ENST00000450296||CCAAA),DOWNSTREAM(MODIFIER||717||236|ACAA1|protein_coding|CODING|ENST00000452171||CCAAA|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||794|||ACAA1|retained_intron|CODING|ENST00000469600||CCAAA),DOWNSTREAM(MODIFIER||3448||288|ACAA1|protein_coding|CODING|ENST00000421218||CCAAA|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3945||126|ACAA1|protein_coding|CODING|ENST00000544624||CCAAA),DOWNSTREAM(MODIFIER||3945||121|ACAA1|nonsense_mediated_decay|CODING|ENST00000440176||CCAAA),DOWNSTREAM(MODIFIER||4216||153|ACAA1|protein_coding|CODING|ENST00000444607||CCAAA),DOWNSTREAM(MODIFIER||4335||113|ACAA1|nonsense_mediated_decay|CODING|ENST00000423611||CCAAA),DOWNSTREAM(MODIFIER||4377||121|ACAA1|nonsense_mediated_decay|CODING|ENST00000447223||CCAAA),INTRON(MODIFIER||||1778|DLEC1|protein_coding|CODING|ENST00000346219|35|CCAAA),INTRON(MODIFIER|||||ACAA1|processed_transcript|CODING|ENST00000451419|2|CCAAA),INTRON(MODIFIER|||||DLEC1|retained_intron|CODING|ENST00000478428|4|CCAAA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 3144528 Proband 16 C G . . Gene=HTT;MT=SNP;MM=CM;CADD=24;VMM=51.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T994R|3142|HTT|protein_coding|CODING|ENST00000355072|23|G),EXON(MODIFIER|||||HTT|retained_intron|CODING|ENST00000510626|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 3219673 Proband 16 C T . . Gene=HTT;MT=SNP;MM=CM;CADD=17.92;VMM=51.77;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P2412|3142|HTT|protein_coding|CODING|ENST00000355072|52|T),DOWNSTREAM(MODIFIER||4891|||HTT|retained_intron|CODING|ENST00000509751||T),EXON(MODIFIER|||||HTT|retained_intron|CODING|ENST00000510626|38|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 62188874 Proband 17 G A . . Gene=PTPRG;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D469N|1445|PTPRG|protein_coding|CODING|ENST00000474889|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D469N|1416|PTPRG|protein_coding|CODING|ENST00000295874|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32809425 Proband 17 C T . . Gene=PSMB8;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G209R|276|PSMB8|protein_coding|CODING|ENST00000374882|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G185R|252|PSMB8|protein_coding|CODING|ENST00000395339|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G205R|272|PSMB8|protein_coding|CODING|ENST00000374881|5|T),UPSTREAM(MODIFIER||2826||842|TAP2|protein_coding|CODING|ENST00000452392||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2868||686|TAP2|protein_coding|CODING|ENST00000374897||T),UPSTREAM(MODIFIER||2438|||TAPSAR1|lincRNA|NON_CODING|ENST00000453426||T),UPSTREAM(MODIFIER||2921||653|TAP2|protein_coding|CODING|ENST00000374899||T),UPSTREAM(MODIFIER||2460|||TAPSAR1|lincRNA|NON_CODING|ENST00000458296||T),UPSTREAM(MODIFIER||2485|||TAPSAR1|lincRNA|NON_CODING|ENST00000413039||T),UPSTREAM(MODIFIER||2485|||TAPSAR1|lincRNA|NON_CODING|ENST00000429600||T),UPSTREAM(MODIFIER||2486|||TAPSAR1|lincRNA|NON_CODING|ENST00000412095||T),UPSTREAM(MODIFIER||2488||196|PSMB9|protein_coding|CODING|ENST00000395330||T),UPSTREAM(MODIFIER||2490|||TAPSAR1|lincRNA|NON_CODING|ENST00000415067||T),UPSTREAM(MODIFIER||3188||130|PSMB9|protein_coding|CODING|ENST00000414474||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3561||808|TAP1|protein_coding|CODING|ENST00000354258||T),DOWNSTREAM(MODIFIER||3561|||TAP1|retained_intron|CODING|ENST00000486332||T),DOWNSTREAM(MODIFIER||3562||547|TAP1|protein_coding|CODING|ENST00000425148||T),DOWNSTREAM(MODIFIER||4027|||TAP1|retained_intron|CODING|ENST00000487296||T),EXON(MODIFIER|||||PSMB8|retained_intron|CODING|ENST00000490613|1|T),EXON(MODIFIER|||||PSMB8|retained_intron|CODING|ENST00000484003|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 3238069 Proband 17 G A . . Gene=MXRA5;MT=SNP;MM=XL;CADD=24.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T1886I|2828|MXRA5|protein_coding|CODING|ENST00000217939|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 51637597 Proband 17 G T . . Gene=MAGED1;MT=SNP;MM=XL;CADD=16.93;VMM=0;EFF=UPSTREAM(MODIFIER||68|||MAGED1|processed_transcript|CODING|ENST00000482188||T),UPSTREAM(MODIFIER||1155|||MAGED1|processed_transcript|CODING|ENST00000482599||T),UPSTREAM(MODIFIER||4110|||MAGED1|processed_transcript|CODING|ENST00000473931||T),INTRON(MODIFIER||||834|MAGED1|protein_coding|CODING|ENST00000375695|2|T),INTRON(MODIFIER||||778|MAGED1|protein_coding|CODING|ENST00000375772|2|T),INTRON(MODIFIER||||778|MAGED1|protein_coding|CODING|ENST00000375722|2|T),INTRON(MODIFIER||||778|MAGED1|protein_coding|CODING|ENST00000326587|2|T),INTRON(MODIFIER|||||MAGED1|processed_transcript|CODING|ENST00000470461|1|T),INTRON(MODIFIER|||||MAGED1|processed_transcript|CODING|ENST00000494718|2|T),INTRON(MODIFIER|||||MAGED1|processed_transcript|CODING|ENST00000485420|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 102831404 Proband 17 G A . . Gene=RAB40A(dist=56987),TCEAL4(dist=9015);MT=SNP;MM=XL;CADD=15.02;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A3T|358|TCEAL4|protein_coding|CODING|ENST00000372629|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 151870212 Proband 17 A G . . Gene=MAGEA6;MT=SNP;MM=XL;CADD=22;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y301C|314|MAGEA6|protein_coding|CODING|ENST00000329342|3|G),DOWNSTREAM(MODIFIER||298||200|MAGEA6|protein_coding|CODING|ENST00000412733||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||195||234|MAGEA6|protein_coding|CODING|ENST00000457643||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43998439 Proband 17 G A . . Gene=PTPRF;MT=SNP;MM=CM;CADD=19.08;VMM=48.88;EFF=INTRON(MODIFIER||||1907|PTPRF|protein_coding|CODING|ENST00000359947|1|A),INTRON(MODIFIER|||||PTPRF|processed_transcript|CODING|ENST00000496043|2|A),INTRON(MODIFIER|||||PTPRF|processed_transcript|CODING|ENST00000481019|1|A),INTRON(MODIFIER||||1898|PTPRF|protein_coding|CODING|ENST00000438120|1|A),INTRON(MODIFIER|||||PTPRF|processed_transcript|CODING|ENST00000436724|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 44084019 Proband 17 C T . . Gene=PTPRF;MT=SNP;MM=CM;CADD=21.4;VMM=48.88;EFF=INTRON(MODIFIER||||1907|PTPRF|protein_coding|CODING|ENST00000359947|25|T),INTRON(MODIFIER||||1898|PTPRF|protein_coding|CODING|ENST00000438120|24|T),INTRON(MODIFIER||||1898|PTPRF|protein_coding|CODING|ENST00000372413|22|T),INTRON(MODIFIER||||1907|PTPRF|protein_coding|CODING|ENST00000372414|23|T),INTRON(MODIFIER||||1290|PTPRF|protein_coding|CODING|ENST00000412568|16|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1552|PTPRF|protein_coding|CODING|ENST00000429895|16|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1331|PTPRF|protein_coding|CODING|ENST00000414879|16|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1266|PTPRF|protein_coding|CODING|ENST00000422171|16|T),INTRON(MODIFIER|||||PTPRF|processed_transcript|CODING|ENST00000496447|12|T),INTRON(MODIFIER||||979|PTPRF|protein_coding|CODING|ENST00000372407|13|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||PTPRF|processed_transcript|CODING|ENST00000477970|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56090074 Proband 17 C T . . Gene=ITGA7;MT=SNP;MM=CM;CADD=29;VMM=52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R671Q|1181|ITGA7|protein_coding|CODING|ENST00000555728|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R631Q|1141|ITGA7|protein_coding|CODING|ENST00000553804|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R627Q|1137|ITGA7|protein_coding|CODING|ENST00000257879|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R46Q|108|ITGA7|nonsense_mediated_decay|CODING|ENST00000554327|1|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R621Q|1131|ITGA7|protein_coding|CODING|ENST00000347027|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R534Q|1044|ITGA7|protein_coding|CODING|ENST00000452168|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R671Q|1162|ITGA7|protein_coding|CODING|ENST00000257880|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R627Q|1118|ITGA7|protein_coding|CODING|ENST00000394229|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R631Q|1122|ITGA7|protein_coding|CODING|ENST00000394230|13|T),DOWNSTREAM(MODIFIER||1462|||ITGA7|retained_intron|CODING|ENST00000557488||T),DOWNSTREAM(MODIFIER||1469||98|ITGA7|nonsense_mediated_decay|CODING|ENST00000556273||T),DOWNSTREAM(MODIFIER||2233|||ITGA7|retained_intron|CODING|ENST00000554543||T),DOWNSTREAM(MODIFIER||2484||152|ITGA7|protein_coding|CODING|ENST00000557257||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2568|||ITGA7|retained_intron|CODING|ENST00000553276||T),DOWNSTREAM(MODIFIER||3688||55|ITGA7|nonsense_mediated_decay|CODING|ENST00000555687||T),DOWNSTREAM(MODIFIER||4382||34|ITGA7|nonsense_mediated_decay|CODING|ENST00000554724||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4486|||ITGA7|retained_intron|CODING|ENST00000553737||T),DOWNSTREAM(MODIFIER||4493|||ITGA7|retained_intron|CODING|ENST00000556371||T),DOWNSTREAM(MODIFIER||4699||48|ITGA7|nonsense_mediated_decay|CODING|ENST00000553893||T),DOWNSTREAM(MODIFIER||4707||48|ITGA7|nonsense_mediated_decay|CODING|ENST00000555809||T),EXON(MODIFIER|||||ITGA7|retained_intron|CODING|ENST00000557058|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56092610 Proband 17 C T . . Gene=ITGA7;MT=SNP;MM=CM;CADD=15.21;VMM=52;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V338|1181|ITGA7|protein_coding|CODING|ENST00000555728|7|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V298|1141|ITGA7|protein_coding|CODING|ENST00000553804|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V294|1137|ITGA7|protein_coding|CODING|ENST00000257879|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V294|1131|ITGA7|protein_coding|CODING|ENST00000347027|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V201|1044|ITGA7|protein_coding|CODING|ENST00000452168|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V338|1162|ITGA7|protein_coding|CODING|ENST00000257880|7|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V294|1118|ITGA7|protein_coding|CODING|ENST00000394229|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V298|1122|ITGA7|protein_coding|CODING|ENST00000394230|6|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V52|98|ITGA7|nonsense_mediated_decay|CODING|ENST00000556273|3|T),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V136|152|ITGA7|protein_coding|CODING|ENST00000557257|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2399||108|ITGA7|nonsense_mediated_decay|CODING|ENST00000554327||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2410|||ITGA7|retained_intron|CODING|ENST00000557058||T),UPSTREAM(MODIFIER||664|||ITGA7|retained_intron|CODING|ENST00000557488||T),DOWNSTREAM(MODIFIER||32|||ITGA7|retained_intron|CODING|ENST00000553276||T),DOWNSTREAM(MODIFIER||1152||55|ITGA7|nonsense_mediated_decay|CODING|ENST00000555687||T),DOWNSTREAM(MODIFIER||1846||34|ITGA7|nonsense_mediated_decay|CODING|ENST00000554724||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1950|||ITGA7|retained_intron|CODING|ENST00000553737||T),DOWNSTREAM(MODIFIER||1957|||ITGA7|retained_intron|CODING|ENST00000556371||T),DOWNSTREAM(MODIFIER||2163||48|ITGA7|nonsense_mediated_decay|CODING|ENST00000553893||T),DOWNSTREAM(MODIFIER||2171||48|ITGA7|nonsense_mediated_decay|CODING|ENST00000555809||T),DOWNSTREAM(MODIFIER||4002|||ITGA7|retained_intron|CODING|ENST00000554359||T),EXON(MODIFIER|||||ITGA7|retained_intron|CODING|ENST00000554543|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 72314557 Proband 17 G C . . Gene=TBC1D15;MT=SNP;MM=CM;CADD=27.5;VMM=30.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C566S|691|TBC1D15|protein_coding|CODING|ENST00000550746|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C557S|682|TBC1D15|protein_coding|CODING|ENST00000319106|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C549S|674|TBC1D15|protein_coding|CODING|ENST00000485960|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|C320S|445|TBC1D15|protein_coding|CODING|ENST00000393309|14|C),UTR_3_PRIME(MODIFIER||27524||124|TBC1D15|nonsense_mediated_decay|CODING|ENST00000462788|14|C),DOWNSTREAM(MODIFIER||3002|||TBC1D15|retained_intron|CODING|ENST00000483828||C),DOWNSTREAM(MODIFIER||2280|||TBC1D15|processed_transcript|CODING|ENST00000548679||C),EXON(MODIFIER|||||TBC1D15|retained_intron|CODING|ENST00000546450|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 72319850 Proband 17 T C . . Gene=TBC1D15;MT=SNP;MM=CM;CADD=10.6;VMM=30.69;EFF=UTR_3_PRIME(MODIFIER||2866||691|TBC1D15|protein_coding|CODING|ENST00000550746|18|C),DOWNSTREAM(MODIFIER||2847||682|TBC1D15|protein_coding|CODING|ENST00000319106||C),DOWNSTREAM(MODIFIER||2708||124|TBC1D15|nonsense_mediated_decay|CODING|ENST00000462788||C),DOWNSTREAM(MODIFIER||2425||674|TBC1D15|protein_coding|CODING|ENST00000485960||C),DOWNSTREAM(MODIFIER||2776||445|TBC1D15|protein_coding|CODING|ENST00000393309||C),DOWNSTREAM(MODIFIER||2855|||TBC1D15|retained_intron|CODING|ENST00000546450||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 88781784 Proband 17 TA T . . Gene=PIEZO1;MT=INDEL;MM=CM;CADD=22.9;VMM=37.89;EFF=UTR_3_PRIME(MODIFIER||126||586|CTU2|protein_coding|CODING|ENST00000567949|15|T),UTR_3_PRIME(MODIFIER||228||2521|PIEZO1|protein_coding|CODING|ENST00000301015|51|T),UTR_3_PRIME(MODIFIER||126||515|CTU2|protein_coding|CODING|ENST00000453996|15|T),UTR_3_PRIME(MODIFIER||157||485|CTU2|protein_coding|CODING|ENST00000312060|14|T),UTR_3_PRIME(MODIFIER||598||34|PIEZO1|protein_coding|CODING|ENST00000518793|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||2209||88|PIEZO1|nonsense_mediated_decay|CODING|ENST00000419505|10|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||238||373|PIEZO1|protein_coding|CODING|ENST00000327397|10|T),UPSTREAM(MODIFIER||3238|||RP5-1142A6.9|antisense|NON_CODING|ENST00000564984||T),DOWNSTREAM(MODIFIER||901|||MIR4722|miRNA|NON_CODING|ENST00000578292||T),DOWNSTREAM(MODIFIER||57||428|CTU2|protein_coding|CODING|ENST00000378384||T),DOWNSTREAM(MODIFIER||57||69|CTU2|nonsense_mediated_decay|CODING|ENST00000564105||T),DOWNSTREAM(MODIFIER||4469|||CTU2|retained_intron|CODING|ENST00000565071||T),DOWNSTREAM(MODIFIER||2995||88|CTU2|protein_coding|CODING|ENST00000564921||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||13|||CTU2|retained_intron|CODING|ENST00000564584||T),DOWNSTREAM(MODIFIER||1||108|CTU2|protein_coding|CODING|ENST00000567316||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||72|||PIEZO1|retained_intron|CODING|ENST00000521877||T),DOWNSTREAM(MODIFIER||439|||PIEZO1|retained_intron|CODING|ENST00000472168||T),DOWNSTREAM(MODIFIER||1646|||PIEZO1|retained_intron|CODING|ENST00000495568||T),DOWNSTREAM(MODIFIER||2345||183|PIEZO1|protein_coding|CODING|ENST00000466823||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3595|||PIEZO1|retained_intron|CODING|ENST00000497793||T),EXON(MODIFIER|||||CTU2|retained_intron|CODING|ENST00000566637|12|T),EXON(MODIFIER|||||CTU2|retained_intron|CODING|ENST00000562011|2|T),EXON(MODIFIER|||||PIEZO1|retained_intron|CODING|ENST00000484567|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 88786314 Proband 17 G A . . Gene=PIEZO1;MT=SNP;MM=CM;CADD=14.58;VMM=37.89;EFF=SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y2073|2521|PIEZO1|protein_coding|CODING|ENST00000301015|43|A),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y81|183|PIEZO1|protein_coding|CODING|ENST00000466823|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3569|||MIR4722|miRNA|NON_CODING|ENST00000578292||A),UPSTREAM(MODIFIER||3629||34|PIEZO1|protein_coding|CODING|ENST00000518793||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1588|||PIEZO1|retained_intron|CODING|ENST00000484567||A),UPSTREAM(MODIFIER||16||88|PIEZO1|nonsense_mediated_decay|CODING|ENST00000419505||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||16||373|PIEZO1|protein_coding|CODING|ENST00000327397||A),UPSTREAM(MODIFIER||3694|||PIEZO1|retained_intron|CODING|ENST00000521877||A),UPSTREAM(MODIFIER||3114|||PIEZO1|retained_intron|CODING|ENST00000472168||A),DOWNSTREAM(MODIFIER||4520||586|CTU2|protein_coding|CODING|ENST00000567949||A),DOWNSTREAM(MODIFIER||4520||515|CTU2|protein_coding|CODING|ENST00000453996||A),DOWNSTREAM(MODIFIER||4586||428|CTU2|protein_coding|CODING|ENST00000378384||A),DOWNSTREAM(MODIFIER||4586||69|CTU2|nonsense_mediated_decay|CODING|ENST00000564105||A),DOWNSTREAM(MODIFIER||4520||485|CTU2|protein_coding|CODING|ENST00000312060||A),DOWNSTREAM(MODIFIER||4520|||CTU2|retained_intron|CODING|ENST00000566637||A),DOWNSTREAM(MODIFIER||4542|||CTU2|retained_intron|CODING|ENST00000564584||A),DOWNSTREAM(MODIFIER||4530||108|CTU2|protein_coding|CODING|ENST00000567316||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4523|||CTU2|retained_intron|CODING|ENST00000562011||A),DOWNSTREAM(MODIFIER||2617|||PIEZO1|retained_intron|CODING|ENST00000566414||A),DOWNSTREAM(MODIFIER||3076||179|PIEZO1|protein_coding|CODING|ENST00000474606||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4041|||PIEZO1|retained_intron|CODING|ENST00000475586||A),EXON(MODIFIER|||||RP5-1142A6.9|antisense|NON_CODING|ENST00000564984|1|A),EXON(MODIFIER|||||PIEZO1|retained_intron|CODING|ENST00000495568|2|A),EXON(MODIFIER|||||PIEZO1|retained_intron|CODING|ENST00000497793|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7191953 Proband 17 T C . . Gene=YBX2;MT=SNP;MM=CM;CADD=21.1;VMM=60.51;EFF=UTR_3_PRIME(MODIFIER||154||364|YBX2|protein_coding|CODING|ENST00000007699|9|C),UPSTREAM(MODIFIER||4563|||RP1-4G17.2|antisense|NON_CODING|ENST00000576271||C),DOWNSTREAM(MODIFIER||377||509|SLC2A4|protein_coding|CODING|ENST00000317370||C),DOWNSTREAM(MODIFIER||801||415|SLC2A4|nonsense_mediated_decay|CODING|ENST00000572485||C),DOWNSTREAM(MODIFIER||2483||461|SLC2A4|protein_coding|CODING|ENST00000571308||C),DOWNSTREAM(MODIFIER||1733||219|SLC2A4|nonsense_mediated_decay|CODING|ENST00000570783||C),DOWNSTREAM(MODIFIER||2467||451|SLC2A4|protein_coding|CODING|ENST00000424875||C),DOWNSTREAM(MODIFIER||903|||YBX2|retained_intron|CODING|ENST00000570720||C),DOWNSTREAM(MODIFIER||1733|||YBX2|processed_transcript|CODING|ENST00000570627||C),DOWNSTREAM(MODIFIER||4441|||YBX2|retained_intron|CODING|ENST00000571127||C),INTRON(MODIFIER||||163|YBX2|protein_coding|CODING|ENST00000571464|4|C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||YBX2|retained_intron|CODING|ENST00000571834|8|C),EXON(MODIFIER|||||YBX2|retained_intron|CODING|ENST00000571485|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7192089 Proband 17 C CT . . Gene=YBX2;MT=INDEL;MM=CM;CADD=23;VMM=60.51;EFF=UTR_3_PRIME(MODIFIER||17||364|YBX2|protein_coding|CODING|ENST00000007699|8|CT),UTR_3_PRIME(MODIFIER||17||163|YBX2|protein_coding|CODING|ENST00000571464|4|CT|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4700|||RP1-4G17.2|antisense|NON_CODING|ENST00000576271||CT),DOWNSTREAM(MODIFIER||514||509|SLC2A4|protein_coding|CODING|ENST00000317370||CT),DOWNSTREAM(MODIFIER||938||415|SLC2A4|nonsense_mediated_decay|CODING|ENST00000572485||CT),DOWNSTREAM(MODIFIER||2620||461|SLC2A4|protein_coding|CODING|ENST00000571308||CT),DOWNSTREAM(MODIFIER||1870||219|SLC2A4|nonsense_mediated_decay|CODING|ENST00000570783||CT),DOWNSTREAM(MODIFIER||2604||451|SLC2A4|protein_coding|CODING|ENST00000424875||CT),DOWNSTREAM(MODIFIER||766|||YBX2|retained_intron|CODING|ENST00000570720||CT),DOWNSTREAM(MODIFIER||1596|||YBX2|processed_transcript|CODING|ENST00000570627||CT),DOWNSTREAM(MODIFIER||4304|||YBX2|retained_intron|CODING|ENST00000571127||CT),EXON(MODIFIER|||||YBX2|retained_intron|CODING|ENST00000571834|7|CT),EXON(MODIFIER|||||YBX2|retained_intron|CODING|ENST00000571485|5|CT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 87133633 Proband 17 G A . . Gene=ABCB1;MT=SNP;MM=CM;CADD=25.8;VMM=49.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1257Y|1280|ABCB1|protein_coding|CODING|ENST00000265724|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H1193Y|1216|ABCB1|protein_coding|CODING|ENST00000543898|26|A),DOWNSTREAM(MODIFIER||1585|||ABCB1|processed_transcript|CODING|ENST00000475929||A),EXON(MODIFIER|||||ABCB1|processed_transcript|CODING|ENST00000488737|9|A),EXON(MODIFIER|||||ABCB1|retained_intron|CODING|ENST00000491360|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 87323209 Proband 17 AT A . . Gene=ABCB1;MT=INDEL;MM=CM;CADD=16.28;VMM=49.79;EFF=INTRON(MODIFIER||||1280|ABCB1|protein_coding|CODING|ENST00000265724|1|A),INTRON(MODIFIER||||473|RUNDC3B|protein_coding|CODING|ENST00000338056|2|A),INTRON(MODIFIER||||47|ABCB1|protein_coding|CODING|ENST00000416177|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||ABCB1|processed_transcript|CODING|ENST00000476862|1|A),INTRON(MODIFIER|||||RUNDC3B|processed_transcript|CODING|ENST00000466676|2|A),INTRON(MODIFIER|||||RUNDC3B|processed_transcript|CODING|ENST00000497788|2|A),INTRON(MODIFIER|||||RUNDC3B|retained_intron|CODING|ENST00000476114|2|A),INTRON(MODIFIER||||407|RUNDC3B|protein_coding|CODING|ENST00000493037|2|A),INTRON(MODIFIER||||456|RUNDC3B|protein_coding|CODING|ENST00000394654|2|A),INTRON(MODIFIER|||||RUNDC3B|processed_transcript|CODING|ENST00000489461|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 118842608 Proband 17 CAT C . . Gene=EXT1;MT=INDEL;MM=CM;CADD=22.4;VMM=36.54;EFF=INTRON(MODIFIER||||746|EXT1|protein_coding|CODING|ENST00000378204|3|C),INTRON(MODIFIER||||41|EXT1|nonsense_mediated_decay|CODING|ENST00000437196|2|C),INTRON(MODIFIER||||206|EXT1|protein_coding|CODING|ENST00000436216|4|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 119123072 Proband 17 C T . . Gene=EXT1;MT=SNP;MM=CM;CADD=14.44;VMM=36.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E72K|746|EXT1|protein_coding|CODING|ENST00000378204|1|T),UPSTREAM(MODIFIER||419||206|EXT1|protein_coding|CODING|ENST00000436216||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||41|EXT1|nonsense_mediated_decay|CODING|ENST00000437196|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 131755588 Proband 18 C T . . Gene=EBF3;MT=SNP;MM=DN;CADD=25.7;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGg/cAg|R163Q|596|EBF3|protein_coding|CODING|ENST00000355311|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGg/cAg|R163Q|551|EBF3|protein_coding|CODING|ENST00000368648|6|T),NEXT_PROT[miscellaneous-site:Interaction_with_DNA](LOW||||596|EBF3|protein_coding|CODING||6|T),NEXT_PROT[miscellaneous-site:Interaction_with_DNA](LOW||||551|EBF3|protein_coding|CODING||6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 71021606 Proband 18 C T . . Gene=FOXP1;MT=SNP;MM=DN;CADD=16.41;VMM=0;EFF=INTRON(MODIFIER||||679|FOXP1|protein_coding|CODING|ENST00000491238|13|T),INTRON(MODIFIER||||677|FOXP1|protein_coding|CODING|ENST00000318789|18|T),INTRON(MODIFIER||||677|FOXP1|protein_coding|CODING|ENST00000475937|17|T),INTRON(MODIFIER||||573|FOXP1|protein_coding|CODING|ENST00000497355|11|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||566|FOXP1|nonsense_mediated_decay|CODING|ENST00000327590|18|T),INTRON(MODIFIER||||677|FOXP1|protein_coding|CODING|ENST00000498215|14|T),INTRON(MODIFIER||||676|FOXP1|protein_coding|CODING|ENST00000493089|18|T),INTRON(MODIFIER||||601|FOXP1|protein_coding|CODING|ENST00000484350|13|T),INTRON(MODIFIER||||613|FOXP1|protein_coding|CODING|ENST00000468577|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 110151293 Proband 18 C G . . Gene=GNAT2;MT=SNP;MM=CM;CADD=21.9;VMM=31.93;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E141Q|354|GNAT2|protein_coding|CODING|ENST00000351050|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 110151345 Proband 18 G A . . Gene=GNAT2;MT=SNP;MM=CM;CADD=13.19;VMM=31.93;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L123|354|GNAT2|protein_coding|CODING|ENST00000351050|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 113992371 Proband 18 T C . . Gene=MAGI3;MT=SNP;MM=CM;CADD=15.11;VMM=37.5;EFF=INTRON(MODIFIER||||1481|MAGI3|protein_coding|CODING|ENST00000307546|1|C),INTRON(MODIFIER||||1150|MAGI3|protein_coding|CODING|ENST00000369617|1|C),INTRON(MODIFIER||||1125|MAGI3|protein_coding|CODING|ENST00000369615|1|C),INTRON(MODIFIER||||1125|MAGI3|protein_coding|CODING|ENST00000369611|1|C),INTRON(MODIFIER|||||MAGI3|processed_transcript|CODING|ENST00000486456|1|C),EXON(MODIFIER|||||RP11-512F24.1|processed_pseudogene|NON_CODING|ENST00000424736|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 113993559 Proband 18 GT G . . Gene=MAGI3;MT=INDEL;MM=CM;CADD=21.8;VMM=37.5;EFF=DOWNSTREAM(MODIFIER||210|||RP11-512F24.1|processed_pseudogene|NON_CODING|ENST00000424736||G),INTRON(MODIFIER||||1481|MAGI3|protein_coding|CODING|ENST00000307546|1|G),INTRON(MODIFIER||||1150|MAGI3|protein_coding|CODING|ENST00000369617|1|G),INTRON(MODIFIER||||1125|MAGI3|protein_coding|CODING|ENST00000369615|1|G),INTRON(MODIFIER||||1125|MAGI3|protein_coding|CODING|ENST00000369611|1|G),INTRON(MODIFIER|||||MAGI3|processed_transcript|CODING|ENST00000486456|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 108380253 Proband 18 G A . . Gene=SORCS1;MT=SNP;MM=CM;CADD=25.3;VMM=81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T910M|1198|SORCS1|protein_coding|CODING|ENST00000344440|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T910M|1168|SORCS1|protein_coding|CODING|ENST00000263054|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T445M|714|SORCS1|protein_coding|CODING|ENST00000369698|12|A),UPSTREAM(MODIFIER||2221|||SORCS1|processed_transcript|CODING|ENST00000478809||A),EXON(MODIFIER|||||SORCS1|retained_intron|CODING|ENST00000486192|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 108459112 Proband 18 C T . . Gene=SORCS1;MT=SNP;MM=CM;CADD=24.1;VMM=81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A425T|1198|SORCS1|protein_coding|CODING|ENST00000344440|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A425T|1168|SORCS1|protein_coding|CODING|ENST00000263054|9|T),UTR_5_PRIME(MODIFIER||123||714|SORCS1|protein_coding|CODING|ENST00000369698|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 66043341 Proband 18 A G . . Gene=RAB1B;MT=SNP;MM=CM;CADD=26;VMM=37.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K116E|201|RAB1B|protein_coding|CODING|ENST00000311481|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K84E|169|RAB1B|protein_coding|CODING|ENST00000527397|4|G),UPSTREAM(MODIFIER||2329||160|CNIH2|protein_coding|CODING|ENST00000311445||G),UPSTREAM(MODIFIER||2320||152|CNIH2|protein_coding|CODING|ENST00000528852||G),UPSTREAM(MODIFIER||2366||39|CNIH2|nonsense_mediated_decay|CODING|ENST00000534826||G),UPSTREAM(MODIFIER||2472||62|CNIH2|nonsense_mediated_decay|CODING|ENST00000528063||G),UPSTREAM(MODIFIER||2592|||CNIH2|processed_transcript|CODING|ENST00000530519||G),DOWNSTREAM(MODIFIER||999|||RP11-867G23.4|antisense|NON_CODING|ENST00000528650||G),DOWNSTREAM(MODIFIER||909|||RP11-867G23.4|antisense|NON_CODING|ENST00000526951||G),INTRON(MODIFIER|||||RP11-867G23.3|lincRNA|NON_CODING|ENST00000501708|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 66044098 Proband 18 C T . . Gene=RAB1B;MT=SNP;MM=CM;CADD=13.08;VMM=37.91;EFF=SPLICE_SITE_REGION(LOW||||169|RAB1B|protein_coding|CODING|ENST00000527397|5|T),UTR_3_PRIME(MODIFIER||389||201|RAB1B|protein_coding|CODING|ENST00000311481|6|T),UTR_3_PRIME(MODIFIER||389||169|RAB1B|protein_coding|CODING|ENST00000527397|5|T),UPSTREAM(MODIFIER||1572||160|CNIH2|protein_coding|CODING|ENST00000311445||T),UPSTREAM(MODIFIER||1563||152|CNIH2|protein_coding|CODING|ENST00000528852||T),UPSTREAM(MODIFIER||1609||39|CNIH2|nonsense_mediated_decay|CODING|ENST00000534826||T),UPSTREAM(MODIFIER||1715||62|CNIH2|nonsense_mediated_decay|CODING|ENST00000528063||T),UPSTREAM(MODIFIER||1835|||CNIH2|processed_transcript|CODING|ENST00000530519||T),DOWNSTREAM(MODIFIER||242|||RP11-867G23.4|antisense|NON_CODING|ENST00000528650||T),DOWNSTREAM(MODIFIER||152|||RP11-867G23.4|antisense|NON_CODING|ENST00000526951||T),INTRON(MODIFIER|||||RP11-867G23.3|lincRNA|NON_CODING|ENST00000501708|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 72358758 Proband 18 C T . . Gene=CYP26B1;MT=SNP;MM=CM;CADD=15.46;VMM=63.62;EFF=UTR_3_PRIME(MODIFIER||598||512|CYP26B1|protein_coding|CODING|ENST00000001146|6|T),UTR_3_PRIME(MODIFIER||598||321|CYP26B1|protein_coding|CODING|ENST00000412253|5|T),DOWNSTREAM(MODIFIER||566||437|CYP26B1|protein_coding|CODING|ENST00000546307||T),DOWNSTREAM(MODIFIER||3222||181|CYP26B1|protein_coding|CODING|ENST00000474509||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3651||171|CYP26B1|protein_coding|CODING|ENST00000461519||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 72360331 Proband 18 G A . . Gene=CYP26B1;MT=SNP;MM=CM;CADD=34;VMM=63.62;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R323W|512|CYP26B1|protein_coding|CODING|ENST00000001146|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R132W|321|CYP26B1|protein_coding|CODING|ENST00000412253|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R248W|437|CYP26B1|protein_coding|CODING|ENST00000546307|4|A),DOWNSTREAM(MODIFIER||1649||181|CYP26B1|protein_coding|CODING|ENST00000474509||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2078||171|CYP26B1|protein_coding|CODING|ENST00000461519||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 159789307 Proband 18 G A . . Gene=FNIP2;MT=SNP;MM=CM;CADD=18.22;VMM=55.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V530I|1137|FNIP2|protein_coding|CODING|ENST00000379346|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V507I|1114|FNIP2|protein_coding|CODING|ENST00000264433|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V530I|672|FNIP2|protein_coding|CODING|ENST00000512986|13|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2204|||FNIP2|processed_transcript|CODING|ENST00000505130||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 159825666 Proband 18 T A . . Gene=FNIP2;MT=SNP;MM=CM;CADD=25;VMM=55.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caT/caA|H1128Q|1137|FNIP2|protein_coding|CODING|ENST00000379346|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caT/caA|H1105Q|1114|FNIP2|protein_coding|CODING|ENST00000264433|17|A),INTRON(MODIFIER||||186|C4orf45|protein_coding|CODING|ENST00000434826|4|A),INTRON(MODIFIER|||||C4orf45|processed_transcript|CODING|ENST00000508011|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 138583859 Proband 18 A C . . Gene=KIAA1244;MT=SNP;MM=CM;CADD=22.8;VMM=31.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E413D|2177|KIAA1244|protein_coding|CODING|ENST00000251691|12|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 138618145 Proband 18 A G . . Gene=KIAA1244;MT=SNP;MM=CM;CADD=12.52;VMM=31.26;EFF=INTRON(MODIFIER||||2177|KIAA1244|protein_coding|CODING|ENST00000251691|21|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 116811507 Proband 18 C T . . Gene=ZNF618;MT=SNP;MM=CM;CADD=24.8;VMM=33.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S642L|954|ZNF618|protein_coding|CODING|ENST00000374126|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S549L|861|ZNF618|protein_coding|CODING|ENST00000288466|14|T),EXON(MODIFIER|||||ZNF618|processed_transcript|CODING|ENST00000470105|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 116813101 Proband 18 C T . . Gene=ZNF618;MT=SNP;MM=CM;CADD=12.43;VMM=33.82;EFF=UTR_3_PRIME(MODIFIER||654||861|ZNF618|protein_coding|CODING|ENST00000288466|14|T),DOWNSTREAM(MODIFIER||600||954|ZNF618|protein_coding|CODING|ENST00000374126||T),DOWNSTREAM(MODIFIER||600|||ZNF618|processed_transcript|CODING|ENST00000470105||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 32895621 Proband 19 ATCT A . . Gene=DNM1L;MT=INDEL;MM=DN;CADD=21.7;VMM=0;EFF=CODON_DELETION(MODERATE||gatctt/gat|DL711D|749|DNM1L|protein_coding|CODING|ENST00000553257|20|A),CODON_DELETION(MODERATE||gatctt/gat|DL672D|710|DNM1L|protein_coding|CODING|ENST00000452533|18|A),CODON_DELETION(MODERATE||gatctt/gat|DL698D|736|DNM1L|protein_coding|CODING|ENST00000549701|19|A),CODON_DELETION(MODERATE||gatctt/gat|DL674D|712|DNM1L|protein_coding|CODING|ENST00000358214|18|A),CODON_DELETION(MODERATE||gatctt/gat|DL661D|699|DNM1L|protein_coding|CODING|ENST00000266481|17|A),CODON_DELETION(MODERATE||gatctt/gat|DL687D|725|DNM1L|protein_coding|CODING|ENST00000547312|18|A),CODON_DELETION(MODERATE||gatctt/gat|DL495D|533|DNM1L|protein_coding|CODING|ENST00000414834|16|A),CODON_DELETION(MODERATE||gatctt/gat|DL700D|738|DNM1L|protein_coding|CODING|ENST00000381000|19|A),UTR_3_PRIME(MODIFIER||22007||117|DNM1L|nonsense_mediated_decay|CODING|ENST00000546649|16|A),UTR_3_PRIME(MODIFIER||34519||54|DNM1L|nonsense_mediated_decay|CODING|ENST00000546757|16|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3856||477|YARS2|protein_coding|CODING|ENST00000324868||A),DOWNSTREAM(MODIFIER||4537|||DNM1L|retained_intron|CODING|ENST00000550093||A),DOWNSTREAM(MODIFIER||4392||47|DNM1L|nonsense_mediated_decay|CODING|ENST00000547078||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4517|||DNM1L|retained_intron|CODING|ENST00000552743||A),DOWNSTREAM(MODIFIER||2221|||DNM1L|retained_intron|CODING|ENST00000549157||A),DOWNSTREAM(MODIFIER||4|||DNM1L|retained_intron|CODING|ENST00000547640||A),DOWNSTREAM(MODIFIER||4516||291|YARS2|nonsense_mediated_decay|CODING|ENST00000548490||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||YARS2|processed_transcript|CODING|ENST00000551673|2|A),EXON(MODIFIER|||||DNM1L|retained_intron|CODING|ENST00000553031|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 71755433 Proband 19 G A . . Gene=DYSF;MT=SNP;MM=DN;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D428N|2119|DYSF|protein_coding|CODING|ENST00000410020|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D427N|2118|DYSF|protein_coding|CODING|ENST00000409582|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D427N|2097|DYSF|protein_coding|CODING|ENST00000409762|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D427N|2111|DYSF|protein_coding|CODING|ENST00000413539|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D396N|2101|DYSF|protein_coding|CODING|ENST00000429174|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D396N|2080|DYSF|protein_coding|CODING|ENST00000258104|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D397N|2081|DYSF|protein_coding|CODING|ENST00000394120|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D397N|2102|DYSF|protein_coding|CODING|ENST00000409366|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D428N|2112|DYSF|protein_coding|CODING|ENST00000409651|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D397N|2088|DYSF|protein_coding|CODING|ENST00000409744|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D428N|2098|DYSF|protein_coding|CODING|ENST00000410041|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 90342889 Proband 19 T C . . Gene=CTSL1;MT=SNP;MM=DN;CADD=15.32;VMM=0;EFF=INTRON(MODIFIER||||333|CTSL|protein_coding|CODING|ENST00000340342|2|C),INTRON(MODIFIER||||333|CTSL|protein_coding|CODING|ENST00000343150|2|C),INTRON(MODIFIER|||||CTSL|processed_transcript|CODING|ENST00000375894|1|C),INTRON(MODIFIER|||||CTSL|processed_transcript|CODING|ENST00000495822|2|C),INTRON(MODIFIER||||225|CTSL|protein_coding|CODING|ENST00000342020|2|C),INTRON(MODIFIER|||||CTSL|processed_transcript|CODING|ENST00000482054|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 39763365 Proband 19 G T . . Gene=MACF1;MT=SNP;MM=CM;CADD=32;VMM=31.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C847F|7592|MACF1|protein_coding|CODING|ENST00000567887|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000545844|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C815F|7388|MACF1|protein_coding|CODING|ENST00000372915|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000361689|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C815F|5430|MACF1|protein_coding|CODING|ENST00000317713|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C815F|5300|MACF1|protein_coding|CODING|ENST00000539005|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C773F|1374|MACF1|protein_coding|CODING|ENST00000524432|20|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C810F|7555|MACF1|protein_coding|CODING|ENST00000564288|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C975F|1062|MACF1|nonsense_mediated_decay|CODING|ENST00000496804|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C964F|2027|MACF1|protein_coding|CODING|ENST00000530262|16|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2621|||MACF1|processed_transcript|CODING|ENST00000476350||T),UPSTREAM(MODIFIER||2621||4433|MACF1|protein_coding|CODING|ENST00000372925||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 39801469 Proband 19 A G . . Gene=MACF1;MT=SNP;MM=CM;CADD=9.675;VMM=31.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N3107S|7592|MACF1|protein_coding|CODING|ENST00000567887|37|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N3075S|7388|MACF1|protein_coding|CODING|ENST00000372915|36|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N3070S|7555|MACF1|protein_coding|CODING|ENST00000564288|37|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1510S|5938|MACF1|protein_coding|CODING|ENST00000289893|1|G),DOWNSTREAM(MODIFIER||4553|||MACF1|processed_transcript|CODING|ENST00000528611||G),INTRON(MODIFIER||||5430|MACF1|protein_coding|CODING|ENST00000545844|36|G),INTRON(MODIFIER||||5430|MACF1|protein_coding|CODING|ENST00000361689|35|G),INTRON(MODIFIER||||5430|MACF1|protein_coding|CODING|ENST00000317713|35|G),INTRON(MODIFIER||||5300|MACF1|protein_coding|CODING|ENST00000539005|35|G),INTRON(MODIFIER||||2027|MACF1|protein_coding|CODING|ENST00000530262|31|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||MACF1|processed_transcript|CODING|ENST00000476350|15|G),INTRON(MODIFIER||||4433|MACF1|protein_coding|CODING|ENST00000372925|15|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 106480538 Proband 19 C T . . Gene=NUAK1;MT=SNP;MM=CM;CADD=25.3;VMM=37.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V163I|661|NUAK1|protein_coding|CODING|ENST00000261402|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V32I|151|NUAK1|protein_coding|CODING|ENST00000548902|1|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2727||117|NUAK1|protein_coding|CODING|ENST00000553094||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2722||73|NUAK1|protein_coding|CODING|ENST00000549704||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 106533518 Proband 19 A G . . Gene=NUAK1;MT=SNP;MM=CM;CADD=13.33;VMM=37.72;EFF=UTR_5_PRIME(MODIFIER||1087||661|NUAK1|protein_coding|CODING|ENST00000261402|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 65208468 Proband 19 A G . . Gene=PLEKHG3;MT=SNP;MM=CM;CADD=25.2;VMM=82.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I745V|1219|PLEKHG3|protein_coding|CODING|ENST00000394691|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I689V|1163|PLEKHG3|protein_coding|CODING|ENST00000247226|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I278V|752|PLEKHG3|protein_coding|CODING|ENST00000471182|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I250V|724|PLEKHG3|protein_coding|CODING|ENST00000484731|3|G),DOWNSTREAM(MODIFIER||4534||2328|SPTB|protein_coding|CODING|ENST00000389722||G),EXON(MODIFIER|||||PLEKHG3|retained_intron|CODING|ENST00000490180|10|G),EXON(MODIFIER|||||PLEKHG3|processed_transcript|CODING|ENST00000492928|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 65209817 Proband 19 C T . . Gene=PLEKHG3;MT=SNP;MM=CM;CADD=24.5;VMM=82.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1019L|1219|PLEKHG3|protein_coding|CODING|ENST00000394691|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P963L|1163|PLEKHG3|protein_coding|CODING|ENST00000247226|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P552L|752|PLEKHG3|protein_coding|CODING|ENST00000471182|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P524L|724|PLEKHG3|protein_coding|CODING|ENST00000484731|4|T),DOWNSTREAM(MODIFIER||3185||2328|SPTB|protein_coding|CODING|ENST00000389722||T),INTRON(MODIFIER|||||PLEKHG3|processed_transcript|CODING|ENST00000492928|1|T),EXON(MODIFIER|||||PLEKHG3|retained_intron|CODING|ENST00000490180|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 76045387 Proband 19 CCCCAGCGTCTCGGTCCAT C . . Gene=FLVCR2;MT=INDEL;MM=CM;CADD=15.84;VMM=61.4;EFF=CODON_DELETION(MODERATE||cccagcgtctcggtccat/|PSVSVH25|526|FLVCR2|protein_coding|CODING|ENST00000238667|1|C),NEXT_PROT[miscellaneous-region:8_X_6_AA_tandem_repeats_of_P-S-_VS_-S-_VIAG_-_HNP_](LOW||||526|FLVCR2|protein_coding|CODING||1|C),NEXT_PROT[repeat:1](LOW||||526|FLVCR2|protein_coding|CODING||1|C),UPSTREAM(MODIFIER||411|||FLVCR2|processed_transcript|CODING|ENST00000554496||C),UPSTREAM(MODIFIER||539|||FLVCR2|processed_transcript|CODING|ENST00000555385||C),EXON(MODIFIER|||||AC007182.6|antisense|NON_CODING|ENST00000455232|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 76090978 Proband 19 C T . . Gene=FLVCR2;MT=SNP;MM=CM;CADD=32;VMM=61.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P279S|526|FLVCR2|protein_coding|CODING|ENST00000238667|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P74S|321|FLVCR2|protein_coding|CODING|ENST00000539311|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P27S|87|FLVCR2|protein_coding|CODING|ENST00000555058|3|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P27S|133|FLVCR2|protein_coding|CODING|ENST00000553587|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P27S|93|FLVCR2|protein_coding|CODING|ENST00000556856|2|T),INTRON(MODIFIER|||||FLVCR2|processed_transcript|CODING|ENST00000554496|1|T),INTRON(MODIFIER|||||FLVCR2|processed_transcript|CODING|ENST00000555385|1|T),INTRON(MODIFIER||||202|FLVCR2|protein_coding|CODING|ENST00000553341|1|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||FLVCR2|processed_transcript|CODING|ENST00000556241|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 95884225 Proband 19 C A . . Gene=SYNE3;MT=SNP;MM=CM;CADD=20.6;VMM=42.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A956S|975|SYNE3|protein_coding|CODING|ENST00000334258|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A713S|732|SYNE3|protein_coding|CODING|ENST00000554873|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A951S|970|SYNE3|protein_coding|CODING|ENST00000557275|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 95921715 Proband 19 G A . . Gene=SYNE3;MT=SNP;MM=CM;CADD=17.49;VMM=42.02;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S379L|975|SYNE3|protein_coding|CODING|ENST00000334258|5|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S136L|732|SYNE3|protein_coding|CODING|ENST00000554873|1|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S379L|970|SYNE3|protein_coding|CODING|ENST00000557275|5|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S379L|596|SYNE3|protein_coding|CODING|ENST00000553340|5|A),SPLICE_SITE_REGION+EXON(LOW|||||SYNE3|retained_intron|CODING|ENST00000555759|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 30593019 Proband 19 A G . . Gene=ZNF785;MT=SNP;MM=CM;CADD=16.01;VMM=44.03;EFF=UTR_3_PRIME(MODIFIER||862||405|ZNF785|protein_coding|CODING|ENST00000395216|3|G),UPSTREAM(MODIFIER||4209|||RP11-146F11.5|antisense|NON_CODING|ENST00000563540||G),DOWNSTREAM(MODIFIER||1431||69|ZNF785|protein_coding|CODING|ENST00000567773||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||AC002310.7|antisense|NON_CODING|ENST00000492040|1|G),INTRON(MODIFIER|||||AC002310.7|antisense|NON_CODING|ENST00000486926|1|G),INTRON(MODIFIER||||80|ZNF785|nonsense_mediated_decay|CODING|ENST00000562128|1|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||390|ZNF785|protein_coding|CODING|ENST00000470110|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 30594109 Proband 19 G T . . Gene=ZNF785;MT=SNP;MM=CM;CADD=23.6;VMM=44.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H330Q|405|ZNF785|protein_coding|CODING|ENST00000395216|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H5Q|80|ZNF785|nonsense_mediated_decay|CODING|ENST00000562128|1|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H315Q|390|ZNF785|protein_coding|CODING|ENST00000470110|3|T),UPSTREAM(MODIFIER||3119|||RP11-146F11.5|antisense|NON_CODING|ENST00000563540||T),DOWNSTREAM(MODIFIER||4874|||AC002310.17|processed_pseudogene|NON_CODING|ENST00000564755||T),DOWNSTREAM(MODIFIER||341||69|ZNF785|protein_coding|CODING|ENST00000567773||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||AC002310.7|antisense|NON_CODING|ENST00000492040|2|T),EXON(MODIFIER|||||AC002310.7|antisense|NON_CODING|ENST00000486926|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 49698115 Proband 19 G A . . Gene=BSN;MT=SNP;MM=CM;CADD=23.3;VMM=69.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2946Q|3926|BSN|protein_coding|CODING|ENST00000296452|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 49698316 Proband 19 C T . . Gene=BSN;MT=SNP;MM=CM;CADD=23.2;VMM=69.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S3013L|3926|BSN|protein_coding|CODING|ENST00000296452|6|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||3926|BSN|protein_coding|CODING||6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 158492660 Proband 19 C T . . Gene=SYNJ2;MT=SNP;MM=CM;CADD=34;VMM=128.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T656M|1496|SYNJ2|protein_coding|CODING|ENST00000355585|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T656M|1288|SYNJ2|protein_coding|CODING|ENST00000367121|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T656M|1451|SYNJ2|protein_coding|CODING|ENST00000367122|15|T),DOWNSTREAM(MODIFIER||4704||516|SYNJ2|protein_coding|CODING|ENST00000449859||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 158495627 Proband 19 T G . . Gene=SYNJ2;MT=SNP;MM=CM;CADD=25.4;VMM=128.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S717A|1496|SYNJ2|protein_coding|CODING|ENST00000355585|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S717A|1288|SYNJ2|protein_coding|CODING|ENST00000367121|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Gct|S717A|1451|SYNJ2|protein_coding|CODING|ENST00000367122|16|G),UPSTREAM(MODIFIER||3085||581|SYNJ2|protein_coding|CODING|ENST00000367112||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 32366975 Proband 20 G A . . Gene=SPAST;MT=SNP;MM=DN;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGt/cAt|R499H|616|SPAST|protein_coding|CODING|ENST00000315285|13|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGt/cAt|R467H|584|SPAST|protein_coding|CODING|ENST00000345662|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 54780185 Proband 20 G A . . Gene=ITIH6;MT=SNP;MM=XL;CADD=24.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P1084L|1313|ITIH6|protein_coding|CODING|ENST00000218436|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 58971748 Proband 20 T A . . Gene=OMA1;MT=SNP;MM=CM;CADD=27.3;VMM=34.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D450V|524|OMA1|protein_coding|CODING|ENST00000371226|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D291V|327|OMA1|protein_coding|CODING|ENST00000421528|7|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D450V|486|OMA1|protein_coding|CODING|ENST00000358603|8|A),INTRON(MODIFIER|||||OMA1|processed_transcript|CODING|ENST00000476933|2|A),EXON(MODIFIER|||||DAB1|processed_transcript|CODING|ENST00000485760|3|A),EXON(MODIFIER|||||OMA1|processed_transcript|CODING|ENST00000467509|3|A),EXON(MODIFIER|||||OMA1|processed_transcript|CODING|ENST00000460671|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 59002162 Proband 20 TA T . . Gene=OMA1;MT=INDEL;MM=CM;CADD=11.77;VMM=34.84;EFF=DOWNSTREAM(MODIFIER||200||182|OMA1|protein_coding|CODING|ENST00000453710||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2542||86|OMA1|protein_coding|CODING|ENST00000482274||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||524|OMA1|protein_coding|CODING|ENST00000371226|3|T),INTRON(MODIFIER|||||DAB1|processed_transcript|CODING|ENST00000485760|1|T),INTRON(MODIFIER||||327|OMA1|protein_coding|CODING|ENST00000421528|2|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||486|OMA1|protein_coding|CODING|ENST00000358603|3|T),INTRON(MODIFIER||||324|OMA1|protein_coding|CODING|ENST00000456980|3|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||OMA1|processed_transcript|CODING|ENST00000467063|2|T),INTRON(MODIFIER||||254|OMA1|protein_coding|CODING|ENST00000419242|3|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||251|OMA1|protein_coding|CODING|ENST00000426139|3|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 56616081 Proband 21 G A . . Gene=RFX7(dist=80598),TEX9(dist=41563);MT=SNP;MM=HR;CADD=18.85;VMM=0;EFF=DOWNSTREAM(MODIFIER||164|||RP11-844G16.1|processed_pseudogene|NON_CODING|ENST00000563485||A),INTRON(MODIFIER||||103|TEX9|protein_coding|CODING|ENST00000560827|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 21408087 Proband 21 C T . . Gene=KCNJ12(dist=84908),C17orf51(dist=23484);MT=SNP;MM=HM;CADD=16.27;VMM=0;EFF=EXON(MODIFIER|||||RPL21P120|processed_pseudogene|NON_CODING|ENST00000482905|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74922744 Proband 21 C T . . Gene=MGAT5B;MT=SNP;MM=HR;CADD=26.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T419M|801|MGAT5B|protein_coding|CODING|ENST00000428789|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T408M|790|MGAT5B|protein_coding|CODING|ENST00000301618|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T408M|792|MGAT5B|protein_coding|CODING|ENST00000569840|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T419M|483|MGAT5B|nonsense_mediated_decay|CODING|ENST00000565043|9|T),DOWNSTREAM(MODIFIER||1642|||MGAT5B|processed_transcript|CODING|ENST00000563627||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45781168 Proband 21 C T . . Gene=MARK4;MT=SNP;MM=HR;CADD=15.32;VMM=0;EFF=UPSTREAM(MODIFIER||2235|||MARK4|retained_intron|CODING|ENST00000590897||T),INTRON(MODIFIER||||752|MARK4|protein_coding|CODING|ENST00000262891|8|T),INTRON(MODIFIER||||688|MARK4|protein_coding|CODING|ENST00000300843|8|T),INTRON(MODIFIER||||97|MARK4|nonsense_mediated_decay|CODING|ENST00000592762|2|T),INTRON(MODIFIER|||||MARK4|retained_intron|CODING|ENST00000588621|4|T),INTRON(MODIFIER||||47|MARK4|nonsense_mediated_decay|CODING|ENST00000592207|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 105570036 Proband 21 C G . . Gene=APPL2;MT=SNP;MM=CM;CADD=12.64;VMM=55.69;EFF=UTR_5_PRIME(MODIFIER||35||107|APPL2|protein_coding|CODING|ENST00000546731|1|G),DOWNSTREAM(MODIFIER||545|||APPL2|retained_intron|CODING|ENST00000548425||G),DOWNSTREAM(MODIFIER||852|||APPL2|retained_intron|CODING|ENST00000547809||G),INTRON(MODIFIER||||670|APPL2|protein_coding|CODING|ENST00000551662|19|G),INTRON(MODIFIER||||664|APPL2|protein_coding|CODING|ENST00000258530|19|G),INTRON(MODIFIER||||235|APPL2|nonsense_mediated_decay|CODING|ENST00000547439|19|G),INTRON(MODIFIER||||621|APPL2|protein_coding|CODING|ENST00000539978|19|G),INTRON(MODIFIER|||||APPL2|retained_intron|CODING|ENST00000547790|2|G),INTRON(MODIFIER||||187|APPL2|protein_coding|CODING|ENST00000553109|5|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 105605026 Proband 21 G A . . Gene=APPL2;MT=SNP;MM=CM;CADD=39;VMM=55.69;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R119*|670|APPL2|protein_coding|CODING|ENST00000551662|5|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R119*|664|APPL2|protein_coding|CODING|ENST00000258530|5|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R119*|235|APPL2|nonsense_mediated_decay|CODING|ENST00000547439|5|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R76*|621|APPL2|protein_coding|CODING|ENST00000539978|5|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R9*|39|APPL2|nonsense_mediated_decay|CODING|ENST00000549974|1|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R86*|143|APPL2|protein_coding|CODING|ENST00000553097|4|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3229|||APPL2|processed_transcript|CODING|ENST00000549573||A),UPSTREAM(MODIFIER||3259|||APPL2|retained_intron|CODING|ENST00000550648||A),DOWNSTREAM(MODIFIER||41||60|APPL2|protein_coding|CODING|ENST00000549056||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||APPL2|retained_intron|CODING|ENST00000547809|5|A),EXON(MODIFIER|||||APPL2|retained_intron|CODING|ENST00000546768|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 40792783 Proband 21 ATATT A . . Gene=LCA5L;MT=INDEL;MM=CM;CADD=18.67;VMM=31.77;EFF=DOWNSTREAM(MODIFIER||702||288|LCA5L|protein_coding|CODING|ENST00000485895||A),DOWNSTREAM(MODIFIER||1554|||LCA5L|retained_intron|CODING|ENST00000491625||A),DOWNSTREAM(MODIFIER||2130|||LCA5L|processed_transcript|CODING|ENST00000459939||A),DOWNSTREAM(MODIFIER||2382|||LCA5L|processed_transcript|CODING|ENST00000490184||A),DOWNSTREAM(MODIFIER||2387||188|LCA5L|protein_coding|CODING|ENST00000418018||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2562|||LCA5L|processed_transcript|CODING|ENST00000466954||A),INTRON(MODIFIER||||670|LCA5L|protein_coding|CODING|ENST00000288350|6|A),INTRON(MODIFIER||||670|LCA5L|protein_coding|CODING|ENST00000380671|5|A),INTRON(MODIFIER||||670|LCA5L|protein_coding|CODING|ENST00000358268|5|A),INTRON(MODIFIER|||||WRB|processed_transcript|CODING|ENST00000478273|1|A),INTRON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000484878|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 40794933 Proband 21 G T . . Gene=LCA5L;MT=SNP;MM=CM;CADD=15.18;VMM=31.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T269K|670|LCA5L|protein_coding|CODING|ENST00000288350|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T269K|670|LCA5L|protein_coding|CODING|ENST00000380671|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T269K|670|LCA5L|protein_coding|CODING|ENST00000358268|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T269K|288|LCA5L|protein_coding|CODING|ENST00000485895|5|T),UPSTREAM(MODIFIER||2864|||WRB|processed_transcript|CODING|ENST00000476914||T),UPSTREAM(MODIFIER||2912|||WRB|processed_transcript|CODING|ENST00000480690||T),DOWNSTREAM(MODIFIER||233|||LCA5L|processed_transcript|CODING|ENST00000490184||T),DOWNSTREAM(MODIFIER||238||188|LCA5L|protein_coding|CODING|ENST00000418018||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||413|||LCA5L|processed_transcript|CODING|ENST00000466954||T),INTRON(MODIFIER|||||WRB|processed_transcript|CODING|ENST00000478273|1|T),EXON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000484878|6|T),EXON(MODIFIER|||||LCA5L|retained_intron|CODING|ENST00000491625|4|T),EXON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000459939|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 94693118 Proband 21 A G . . Gene=GRID2;MT=SNP;MM=CM;CADD=14.24;VMM=45.84;EFF=INTRON(MODIFIER||||1007|GRID2|protein_coding|CODING|ENST00000282020|15|G),INTRON(MODIFIER||||912|GRID2|protein_coding|CODING|ENST00000510992|14|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 94693546 Proband 21 T A . . Gene=GRID2;MT=SNP;MM=CM;CADD=28;VMM=45.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F974Y|1007|GRID2|protein_coding|CODING|ENST00000282020|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F879Y|912|GRID2|protein_coding|CODING|ENST00000510992|15|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 128483884 Proband 21 A G . . Gene=FLNC;MT=SNP;MM=CM;CADD=26.3;VMM=101.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D949G|2725|FLNC|protein_coding|CODING|ENST00000325888|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D949G|2692|FLNC|protein_coding|CODING|ENST00000346177|19|G),DOWNSTREAM(MODIFIER||972|||FLNC|retained_intron|CODING|ENST00000388853||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 128486412 Proband 21 G A . . Gene=FLNC;MT=SNP;MM=CM;CADD=27.5;VMM=101.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1341Q|2725|FLNC|protein_coding|CODING|ENST00000325888|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1341Q|2692|FLNC|protein_coding|CODING|ENST00000346177|23|A),DOWNSTREAM(MODIFIER||3804|||RP11-309L24.2|antisense|NON_CODING|ENST00000469965||A),DOWNSTREAM(MODIFIER||3500|||FLNC|retained_intron|CODING|ENST00000388853||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 10645515 Proband 22 C T . . Gene=MID1;MT=SNP;MM=XL;CADD=15.79;VMM=0;EFF=UTR_5_PRIME(MODIFIER||109928||667|MID1|protein_coding|CODING|ENST00000453318|1|T),UTR_5_PRIME(MODIFIER||109928||482|MID1|protein_coding|CODING|ENST00000413894|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380785|1|T),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380787|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 50051939 Proband 22 A T . . Gene=CCNB3;MT=SNP;MM=XL;CADD=22.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E257V|1395|CCNB3|protein_coding|CODING|ENST00000276014|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E257V|1395|CCNB3|protein_coding|CODING|ENST00000376042|6|T),INTRON(MODIFIER||||291|CCNB3|protein_coding|CODING|ENST00000376038|4|T),INTRON(MODIFIER||||111|CCNB3|nonsense_mediated_decay|CODING|ENST00000476167|5|T),INTRON(MODIFIER||||291|CCNB3|protein_coding|CODING|ENST00000348603|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 70756269 Proband 22 G A . . Gene=BCYRN1;MT=SNP;MM=XL;CADD=17.8;VMM=0;EFF=UPSTREAM(MODIFIER||595||209|OGT|protein_coding|CODING|ENST00000455587||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4045|||TAF1|processed_transcript|CODING|ENST00000467309||A),INTRON(MODIFIER||||1046|OGT|protein_coding|CODING|ENST00000373719|2|A),INTRON(MODIFIER|||||OGT|retained_intron|CODING|ENST00000488174|2|A),INTRON(MODIFIER||||1036|OGT|protein_coding|CODING|ENST00000373701|2|A),INTRON(MODIFIER|||||OGT|processed_transcript|CODING|ENST00000498566|2|A),INTRON(MODIFIER||||155|OGT|protein_coding|CODING|ENST00000444774|2|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||OGT|retained_intron|CODING|ENST00000472270|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 111613299 Proband 22 G A . . Gene=PPP2R1B;MT=SNP;MM=CM;CADD=35;VMM=42.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R549C|667|PPP2R1B|protein_coding|CODING|ENST00000311129|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R485C|603|PPP2R1B|protein_coding|CODING|ENST00000426998|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R549C|601|PPP2R1B|protein_coding|CODING|ENST00000527614|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R388C|440|PPP2R1B|protein_coding|CODING|ENST00000427203|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R504C|556|PPP2R1B|protein_coding|CODING|ENST00000341980|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R422C|474|PPP2R1B|protein_coding|CODING|ENST00000393055|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R177C|222|PPP2R1B|protein_coding|CODING|ENST00000531890|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||18615||135|PPP2R1B|nonsense_mediated_decay|CODING|ENST00000534521|13|A),EXON(MODIFIER|||||PPP2R1B|retained_intron|CODING|ENST00000529672|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 111635566 Proband 22 C T . . Gene=PPP2R1B;MT=SNP;MM=CM;CADD=11.26;VMM=42.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G90D|667|PPP2R1B|protein_coding|CODING|ENST00000311129|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G90D|601|PPP2R1B|protein_coding|CODING|ENST00000527614|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G90D|135|PPP2R1B|nonsense_mediated_decay|CODING|ENST00000534521|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G90D|556|PPP2R1B|protein_coding|CODING|ENST00000341980|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G90D|474|PPP2R1B|protein_coding|CODING|ENST00000393055|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G75D|118|PPP2R1B|protein_coding|CODING|ENST00000531373|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||3668||440|PPP2R1B|protein_coding|CODING|ENST00000427203|3|T),DOWNSTREAM(MODIFIER||3826|||RP11-108O10.2|lincRNA|NON_CODING|ENST00000529841||T),DOWNSTREAM(MODIFIER||4015|||RP11-108O10.2|lincRNA|NON_CODING|ENST00000534218||T),INTRON(MODIFIER||||603|PPP2R1B|protein_coding|CODING|ENST00000426998|1|T),INTRON(MODIFIER||||83|PPP2R1B|nonsense_mediated_decay|CODING|ENST00000534500|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 113675444 Proband 22 G A . . Gene=USP28;MT=SNP;MM=CM;CADD=34;VMM=48.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A870V|1077|USP28|protein_coding|CODING|ENST00000003302|21|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A838V|1045|USP28|protein_coding|CODING|ENST00000260188|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A546V|753|USP28|protein_coding|CODING|ENST00000544967|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A713V|920|USP28|protein_coding|CODING|ENST00000545540|18|A),UTR_3_PRIME(MODIFIER||30555||194|USP28|nonsense_mediated_decay|CODING|ENST00000540438|19|A),UPSTREAM(MODIFIER||3021|||USP28|retained_intron|CODING|ENST00000544272||A),DOWNSTREAM(MODIFIER||206||192|USP28|protein_coding|CODING|ENST00000538224||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 113684625 Proband 22 G A . . Gene=USP28;MT=SNP;MM=CM;CADD=12.65;VMM=48.2;EFF=SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C575|1077|USP28|protein_coding|CODING|ENST00000003302|15|A),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C575|1045|USP28|protein_coding|CODING|ENST00000260188|15|A),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C283|753|USP28|protein_coding|CODING|ENST00000544967|6|A),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C450|920|USP28|protein_coding|CODING|ENST00000545540|13|A),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C279|359|USP28|protein_coding|CODING|ENST00000538475|8|A|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C575|583|USP28|protein_coding|CODING|ENST00000537706|15|A),UPSTREAM(MODIFIER||4174|||RP11-667M19.10|antisense|NON_CODING|ENST00000399123||A),UPSTREAM(MODIFIER||4728||192|USP28|protein_coding|CODING|ENST00000538224||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1361||50|USP28|nonsense_mediated_decay|CODING|ENST00000545608||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3803||39|USP28|nonsense_mediated_decay|CODING|ENST00000535607||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3928||90|USP28|nonsense_mediated_decay|CODING|ENST00000537490||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||194|USP28|nonsense_mediated_decay|CODING|ENST00000540438|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 33270975 Proband 22 T C . . Gene=PDS5B;MT=SNP;MM=CM;CADD=16.75;VMM=58.43;EFF=UPSTREAM(MODIFIER||4146|||PDS5B|retained_intron|CODING|ENST00000481616||C),INTRON(MODIFIER||||1447|PDS5B|protein_coding|CODING|ENST00000315596|14|C),INTRON(MODIFIER||||1391|PDS5B|nonsense_mediated_decay|CODING|ENST00000450460|14|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 33332229 Proband 22 C T . . Gene=PDS5B;MT=SNP;MM=CM;CADD=28.7;VMM=58.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L1021F|1447|PDS5B|protein_coding|CODING|ENST00000315596|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L1021F|1391|PDS5B|nonsense_mediated_decay|CODING|ENST00000450460|27|T),UPSTREAM(MODIFIER||78||301|PDS5B|protein_coding|CODING|ENST00000447833||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 159390112 Proband 22 C T . . Gene=PKP4;MT=SNP;MM=CM;CADD=19.29;VMM=60.6;EFF=UPSTREAM(MODIFIER||600|||snoZ5|snoRNA|NON_CODING|ENST00000515912||T),INTRON(MODIFIER||||1192|PKP4|protein_coding|CODING|ENST00000389759|2|T),INTRON(MODIFIER||||216|PKP4|nonsense_mediated_decay|CODING|ENST00000426248|2|T),INTRON(MODIFIER||||1149|PKP4|protein_coding|CODING|ENST00000389757|2|T),INTRON(MODIFIER||||53|PKP4|nonsense_mediated_decay|CODING|ENST00000457109|3|T),INTRON(MODIFIER||||46|PKP4|nonsense_mediated_decay|CODING|ENST00000452162|2|T),INTRON(MODIFIER||||95|PKP4|nonsense_mediated_decay|CODING|ENST00000411900|2|T),INTRON(MODIFIER||||216|PKP4|nonsense_mediated_decay|CODING|ENST00000421462|2|T),INTRON(MODIFIER|||||PKP4|processed_transcript|CODING|ENST00000462335|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 159459601 Proband 22 C T . . Gene=PKP4;MT=SNP;MM=CM;CADD=25.3;VMM=60.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P89S|1192|PKP4|protein_coding|CODING|ENST00000389759|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P89S|216|PKP4|nonsense_mediated_decay|CODING|ENST00000426248|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P89S|1149|PKP4|protein_coding|CODING|ENST00000389757|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P89S|216|PKP4|nonsense_mediated_decay|CODING|ENST00000421462|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P21S|165|PKP4|nonsense_mediated_decay|CODING|ENST00000481115|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||69622||53|PKP4|nonsense_mediated_decay|CODING|ENST00000457109|5|T),UTR_3_PRIME(MODIFIER||11||46|PKP4|nonsense_mediated_decay|CODING|ENST00000452162|3|T),EXON(MODIFIER|||||PKP4|processed_transcript|CODING|ENST00000462335|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 4996524 Proband 22 C T . . Gene=RPP40;MT=SNP;MM=CM;CADD=12.45;VMM=33.6;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T230|363|RPP40|protein_coding|CODING|ENST00000380051|6|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T207|340|RPP40|protein_coding|CODING|ENST00000319533|5|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T170|303|RPP40|protein_coding|CODING|ENST00000464646|6|T),DOWNSTREAM(MODIFIER||2398|||RPP40|retained_intron|CODING|ENST00000468105||T),DOWNSTREAM(MODIFIER||2538||113|RPP40|nonsense_mediated_decay|CODING|ENST00000479782||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 4999066 Proband 22 A G . . Gene=RPP40;MT=SNP;MM=CM;CADD=24.6;VMM=33.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I148T|363|RPP40|protein_coding|CODING|ENST00000380051|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I125T|340|RPP40|protein_coding|CODING|ENST00000319533|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I88T|303|RPP40|protein_coding|CODING|ENST00000464646|5|G),UTR_3_PRIME(MODIFIER||1763||113|RPP40|nonsense_mediated_decay|CODING|ENST00000479782|6|G),DOWNSTREAM(MODIFIER||2944|||RPP40|retained_intron|CODING|ENST00000483546||G),EXON(MODIFIER|||||RPP40|retained_intron|CODING|ENST00000468105|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480176 Proband 23 A T . . Gene=ACTR3B;MT=SNP;MM=HR;CADD=15.47;VMM=0;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 13791215 Proband 23 AG A . . Gene=GPM6B;MT=INDEL;MM=XL;CADD=15.67;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1447||246|GPM6B|protein_coding|CODING|ENST00000454189|7|A),DOWNSTREAM(MODIFIER||3744||1012|OFD1|protein_coding|CODING|ENST00000340096||A),DOWNSTREAM(MODIFIER||3736||972|OFD1|protein_coding|CODING|ENST00000380550||A),DOWNSTREAM(MODIFIER||3744||872|OFD1|protein_coding|CODING|ENST00000380567||A),DOWNSTREAM(MODIFIER||3744|||OFD1|processed_transcript|CODING|ENST00000490265||A),DOWNSTREAM(MODIFIER||3926|||OFD1|processed_transcript|CODING|ENST00000464463||A),DOWNSTREAM(MODIFIER||3924|||OFD1|processed_transcript|CODING|ENST00000474705||A),DOWNSTREAM(MODIFIER||857||305|GPM6B|protein_coding|CODING|ENST00000355135||A),DOWNSTREAM(MODIFIER||857||265|GPM6B|protein_coding|CODING|ENST00000356942||A),DOWNSTREAM(MODIFIER||1240||179|GPM6B|protein_coding|CODING|ENST00000398361||A),DOWNSTREAM(MODIFIER||3070||214|GPM6B|protein_coding|CODING|ENST00000495211||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||328|GPM6B|protein_coding|CODING|ENST00000316715|7|A),INTRON(MODIFIER||||302|GPM6B|protein_coding|CODING|ENST00000493677|8|A),INTRON(MODIFIER||||183|GPM6B|protein_coding|CODING|ENST00000472735|4|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 46330439 Proband 23 A G . . Gene=KRBOX4;MT=SNP;MM=XL;CADD=19.62;VMM=0;EFF=INTRON(MODIFIER||||171|KRBOX4|protein_coding|CODING|ENST00000344302|5|G),INTRON(MODIFIER||||98|KRBOX4|protein_coding|CODING|ENST00000360017|5|G),INTRON(MODIFIER||||166|KRBOX4|protein_coding|CODING|ENST00000298190|5|G),INTRON(MODIFIER||||98|KRBOX4|protein_coding|CODING|ENST00000377919|5|G),INTRON(MODIFIER||||93|KRBOX4|protein_coding|CODING|ENST00000478600|5|G),INTRON(MODIFIER||||98|KRBOX4|protein_coding|CODING|ENST00000487081|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 129519106 Proband 23 C T . . Gene=GPR119;MT=SNP;MM=XL;CADD=24.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A106T|335|GPR119|protein_coding|CODING|ENST00000276218|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 9780269 Proband 24 C T . . Gene=PIK3CD;MT=SNP;MM=DN;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P445L|1068|PIK3CD|protein_coding|CODING|ENST00000361110|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P445L|1068|PIK3CD|protein_coding|CODING|ENST00000536656|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P480L|1044|PIK3CD|protein_coding|CODING|ENST00000377346|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P147L|319|PIK3CD|protein_coding|CODING|ENST00000543390|4|T),DOWNSTREAM(MODIFIER||4048|||PIK3CD|retained_intron|CODING|ENST00000481137||T),DOWNSTREAM(MODIFIER||2630|||PIK3CD|retained_intron|CODING|ENST00000479223||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 34261475 Proband 24 C T . . Gene=FHOD3;MT=SNP;MM=CM;CADD=35;VMM=40.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R638W|1622|FHOD3|protein_coding|CODING|ENST00000590592|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R463W|1439|FHOD3|protein_coding|CODING|ENST00000257209|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R425W|1401|FHOD3|protein_coding|CODING|ENST00000445677|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R463W|1422|FHOD3|protein_coding|CODING|ENST00000359247|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R223W|1199|FHOD3|protein_coding|CODING|ENST00000592930|5|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||635|FHOD3|protein_coding|CODING|ENST00000591635|7|T),EXON(MODIFIER|||||FHOD3|retained_intron|CODING|ENST00000589114|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 34310632 Proband 24 G A . . Gene=FHOD3;MT=SNP;MM=CM;CADD=10.81;VMM=40.03;EFF=SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R1147|1622|FHOD3|protein_coding|CODING|ENST00000590592|20|A),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R972|1439|FHOD3|protein_coding|CODING|ENST00000257209|17|A),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R934|1401|FHOD3|protein_coding|CODING|ENST00000445677|16|A),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R955|1422|FHOD3|protein_coding|CODING|ENST00000359247|16|A),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R168|635|FHOD3|protein_coding|CODING|ENST00000591635|9|A),SYNONYMOUS_CODING(LOW|SILENT|agG/agA|R732|1199|FHOD3|protein_coding|CODING|ENST00000592930|10|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||9999||418|FHOD3|protein_coding|CODING|ENST00000592128|2|A),UPSTREAM(MODIFIER||35||374|FHOD3|protein_coding|CODING|ENST00000585579||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 20270952 Proband 24 C A . . Gene=C20orf26;MT=SNP;MM=CM;CADD=29.9;VMM=134.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Att|L1045I|1237|C20orf26|protein_coding|CODING|ENST00000245957|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F291L|320|C20orf26|protein_coding|CODING|ENST00000377309|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F291L|320|C20orf26|nonsense_mediated_decay|CODING|ENST00000377308|7|A),EXON(MODIFIER|||||C20orf26|processed_transcript|CODING|ENST00000488640|3|A),EXON(MODIFIER|||||C20orf26|processed_transcript|CODING|ENST00000469994|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 20278910 Proband 24 C T . . Gene=C20orf26;MT=SNP;MM=CM;CADD=29.7;VMM=134.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1101M|1237|C20orf26|protein_coding|CODING|ENST00000245957|25|T),UTR_3_PRIME(MODIFIER||79||320|C20orf26|protein_coding|CODING|ENST00000377309|24|T),UTR_3_PRIME(MODIFIER||79||320|C20orf26|nonsense_mediated_decay|CODING|ENST00000377308|8|T),EXON(MODIFIER|||||C20orf26|processed_transcript|CODING|ENST00000469994|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 132179072 Proband 24 G GT . . Gene=DNAJC13;MT=INDEL;MM=CM;CADD=18.33;VMM=51.19;EFF=DOWNSTREAM(MODIFIER||1880|||DNAJC13|retained_intron|CODING|ENST00000471925||GT),INTRON(MODIFIER||||2243|DNAJC13|protein_coding|CODING|ENST00000260818|13|GT),INTRON(MODIFIER|||||DNAJC13|processed_transcript|CODING|ENST00000486798|13|GT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 132218621 Proband 24 G A . . Gene=DNAJC13;MT=SNP;MM=CM;CADD=23.2;VMM=51.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1462H|2243|DNAJC13|protein_coding|CODING|ENST00000260818|38|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 5021273 Proband 25 C A . . Gene=KCNA1;MT=SNP;MM=DN;CADD=36;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|tgC/tgA|C243*|495|KCNA1|protein_coding|CODING|ENST00000382545|2|A),NEXT_PROT[lipidation-site:S-palmitoyl_cysteine](LOW||||495|KCNA1|protein_coding|CODING||2|A),NEXT_PROT[topological-domain:Cytoplasmic](LOW||||495|KCNA1|protein_coding|CODING||2|A),INTRON(MODIFIER|||||KCNA1|processed_transcript|CODING|ENST00000541095|1|A),INTRON(MODIFIER|||||KCNA1|processed_transcript|CODING|ENST00000543874|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 29175210 Proband 25 C A . . Gene=TTR;MT=SNP;MM=HR;CADD=24.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H110N|147|TTR|protein_coding|CODING|ENST00000237014|3|A),DOWNSTREAM(MODIFIER||1702|||TTR|retained_intron|CODING|ENST00000432547||A),EXON(MODIFIER|||||TTR|retained_intron|CODING|ENST00000541025|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 234469814 Proband 25 C T . . Gene=USP40;MT=SNP;MM=HR;CADD=15.71;VMM=0;EFF=INTRON(MODIFIER||||1247|USP40|protein_coding|CODING|ENST00000450966|2|T),INTRON(MODIFIER||||1235|USP40|protein_coding|CODING|ENST00000251722|3|T),INTRON(MODIFIER||||1235|USP40|protein_coding|CODING|ENST00000427112|2|T),INTRON(MODIFIER|||||USP40|retained_intron|CODING|ENST00000427947|3|T),INTRON(MODIFIER|||||USP40|retained_intron|CODING|ENST00000484528|3|T),INTRON(MODIFIER||||98|USP40|protein_coding|CODING|ENST00000443711|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 84010726 Proband 25 C T . . Gene=HDX(dist=253239),UBE2DNL(dist=178431);MT=SNP;MM=XL;CADD=15.42;VMM=0;EFF=EXON(MODIFIER|||||SETP4|processed_pseudogene|NON_CODING|ENST00000455717|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 24762406 Proband 25 G A . . Gene=KIAA1217;MT=SNP;MM=CM;CADD=32;VMM=114.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A366T|1943|KIAA1217|protein_coding|CODING|ENST00000376454|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A286T|1264|KIAA1217|protein_coding|CODING|ENST00000376462|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A366T|932|KIAA1217|protein_coding|CODING|ENST00000376456|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A366T|1349|KIAA1217|protein_coding|CODING|ENST00000458595|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A366T|1374|KIAA1217|protein_coding|CODING|ENST00000376452|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A216T|782|KIAA1217|protein_coding|CODING|ENST00000438429|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A287T|611|KIAA1217|protein_coding|CODING|ENST00000430453|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A84T|932|KIAA1217|protein_coding|CODING|ENST00000307544|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A84T|866|KIAA1217|protein_coding|CODING|ENST00000396446|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A84T|1465|KIAA1217|protein_coding|CODING|ENST00000376451|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A84T|906|KIAA1217|protein_coding|CODING|ENST00000396445|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 24835102 Proband 25 C T . . Gene=KIAA1217;MT=SNP;MM=CM;CADD=24.8;VMM=114.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S1894F|1943|KIAA1217|protein_coding|CODING|ENST00000376454|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S1215F|1264|KIAA1217|protein_coding|CODING|ENST00000376462|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S1300F|1349|KIAA1217|protein_coding|CODING|ENST00000458595|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S1325F|1374|KIAA1217|protein_coding|CODING|ENST00000376452|19|T),UTR_3_PRIME(MODIFIER||1055||1465|KIAA1217|protein_coding|CODING|ENST00000376451|15|T),UTR_3_PRIME(MODIFIER||1055||906|KIAA1217|protein_coding|CODING|ENST00000396445|13|T),DOWNSTREAM(MODIFIER||905||932|KIAA1217|protein_coding|CODING|ENST00000307544||T),DOWNSTREAM(MODIFIER||857||866|KIAA1217|protein_coding|CODING|ENST00000396446||T),DOWNSTREAM(MODIFIER||2465|||KIAA1217|retained_intron|CODING|ENST00000492009||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 64926827 Proband 25 G A . . Gene=JMJD1C;MT=SNP;MM=CM;CADD=13.62;VMM=51.66;EFF=DOWNSTREAM(MODIFIER||154||2540|JMJD1C|protein_coding|CODING|ENST00000399262||A),DOWNSTREAM(MODIFIER||154|||JMJD1C|retained_intron|CODING|ENST00000467356||A),DOWNSTREAM(MODIFIER||163||2303|JMJD1C|protein_coding|CODING|ENST00000402544||A),DOWNSTREAM(MODIFIER||163||1480|JMJD1C|protein_coding|CODING|ENST00000399251||A),DOWNSTREAM(MODIFIER||523||2358|JMJD1C|protein_coding|CODING|ENST00000542921||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 64949170 Proband 25 C T . . Gene=JMJD1C;MT=SNP;MM=CM;CADD=33;VMM=51.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2110N|2540|JMJD1C|protein_coding|CODING|ENST00000399262|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1873N|2303|JMJD1C|protein_coding|CODING|ENST00000402544|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1928N|2358|JMJD1C|protein_coding|CODING|ENST00000542921|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D656N|955|JMJD1C|protein_coding|CODING|ENST00000327520|7|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||9292||1480|JMJD1C|protein_coding|CODING|ENST00000399251|17|T),DOWNSTREAM(MODIFIER||3529|||JMJD1C|processed_transcript|CODING|ENST00000490669||T),DOWNSTREAM(MODIFIER||3700|||JMJD1C|processed_transcript|CODING|ENST00000483298||T),EXON(MODIFIER|||||JMJD1C|processed_transcript|CODING|ENST00000497922|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3833665 Proband 25 C T . . Gene=ATP2A3;MT=SNP;MM=CM;CADD=23;VMM=41.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|1052|ATP2A3|protein_coding|CODING|ENST00000359983|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|1029|ATP2A3|protein_coding|CODING|ENST00000397035|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|999|ATP2A3|protein_coding|CODING|ENST00000397041|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|1029|ATP2A3|protein_coding|CODING|ENST00000309890|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E76K|216|ATP2A3|protein_coding|CODING|ENST00000397039|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1K|153|ATP2A3|protein_coding|CODING|ENST00000570845|1|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|1043|ATP2A3|protein_coding|CODING|ENST00000352011|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E892K|998|ATP2A3|protein_coding|CODING|ENST00000397043|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1K|142|ATP2A3|protein_coding|CODING|ENST00000572116|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1751|||ATP2A3|retained_intron|CODING|ENST00000574999||T),DOWNSTREAM(MODIFIER||4565|||ATP2A3|retained_intron|CODING|ENST00000572176||T),EXON(MODIFIER|||||ATP2A3|retained_intron|CODING|ENST00000570773|1|T),EXON(MODIFIER|||||ATP2A3|retained_intron|CODING|ENST00000571245|1|T),EXON(MODIFIER|||||ATP2A3|retained_intron|CODING|ENST00000576957|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3839733 Proband 25 G A . . Gene=ATP2A3;MT=SNP;MM=CM;CADD=15.75;VMM=41.9;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|1052|ATP2A3|protein_coding|CODING|ENST00000359983|16|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|1029|ATP2A3|protein_coding|CODING|ENST00000397035|16|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|999|ATP2A3|protein_coding|CODING|ENST00000397041|16|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|1029|ATP2A3|protein_coding|CODING|ENST00000309890|16|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|1043|ATP2A3|protein_coding|CODING|ENST00000352011|16|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P784|998|ATP2A3|protein_coding|CODING|ENST00000397043|16|A),START_GAINED(LOW||||216|ATP2A3|protein_coding|CODING|ENST00000397039|16|A),UTR_5_PRIME(MODIFIER||97||216|ATP2A3|protein_coding|CODING|ENST00000397039|16|A),UPSTREAM(MODIFIER||87|||ATP2A3|retained_intron|CODING|ENST00000572176||A),DOWNSTREAM(MODIFIER||5000|||ATP2A3|retained_intron|CODING|ENST00000572694||A),EXON(MODIFIER|||||ATP2A3|retained_intron|CODING|ENST00000576957|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 38282536 Proband 25 A G . . Gene=MSL1;MT=SNP;MM=CM;CADD=22.7;VMM=40.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E290G|614|MSL1|protein_coding|CODING|ENST00000398532|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E290G|461|MSL1|protein_coding|CODING|ENST00000577454|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E290G|598|MSL1|protein_coding|CODING|ENST00000578648|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E27G|351|MSL1|protein_coding|CODING|ENST00000579565|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E70G|115|MSL1|protein_coding|CODING|ENST00000582920|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||110||146|MSL1|nonsense_mediated_decay|CODING|ENST00000582884||G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4647|||MSL1|retained_intron|CODING|ENST00000581246||G),UPSTREAM(MODIFIER||4718|||MSL1|retained_intron|CODING|ENST00000339569||G),EXON(MODIFIER|||||MSL1|retained_intron|CODING|ENST00000578826|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 38292870 Proband 25 T C . . Gene=MSL1;MT=SNP;MM=CM;CADD=15.53;VMM=40.57;EFF=UTR_3_PRIME(MODIFIER||2248||614|MSL1|protein_coding|CODING|ENST00000398532|9|C),UPSTREAM(MODIFIER||3706||703|CASC3|protein_coding|CODING|ENST00000264645||C),UPSTREAM(MODIFIER||3701|||CASC3|retained_intron|CODING|ENST00000418132||C),UPSTREAM(MODIFIER||3920|||CASC3|retained_intron|CODING|ENST00000581849||C),UPSTREAM(MODIFIER||3927|||CASC3|retained_intron|CODING|ENST00000583649||C),UPSTREAM(MODIFIER||4225||65|CASC3|protein_coding|CODING|ENST00000584997||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1807||598|MSL1|protein_coding|CODING|ENST00000578648||C),DOWNSTREAM(MODIFIER||2167||351|MSL1|protein_coding|CODING|ENST00000579565||C),DOWNSTREAM(MODIFIER||4575||146|MSL1|nonsense_mediated_decay|CODING|ENST00000582884||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3522|||MSL1|retained_intron|CODING|ENST00000581246||C),DOWNSTREAM(MODIFIER||2731|||MSL1|retained_intron|CODING|ENST00000583127||C),DOWNSTREAM(MODIFIER||499|||MSL1|retained_intron|CODING|ENST00000580086||C),EXON(MODIFIER|||||MSL1|retained_intron|CODING|ENST00000339569|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45815163 Proband 25 G A . . Gene=CKM;MT=SNP;MM=CM;CADD=24.6;VMM=117.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T166M|381|CKM|protein_coding|CODING|ENST00000221476|5|A),NEXT_PROT[modified-residue:Phosphothreonine](MODERATE||||381|CKM|protein_coding|CODING||5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45818762 Proband 25 G A . . Gene=CKM;MT=SNP;MM=CM;CADD=33;VMM=117.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R148C|381|CKM|protein_coding|CODING|ENST00000221476|4|A),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||381|CKM|protein_coding|CODING||4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 9786217 Proband 25 C T . . Gene=BRPF1;MT=SNP;MM=CM;CADD=12.39;VMM=31.14;EFF=UPSTREAM(MODIFIER||511|||BRPF1|retained_intron|CODING|ENST00000497565||T),DOWNSTREAM(MODIFIER||738|||BRPF1|processed_transcript|CODING|ENST00000469066||T),INTRON(MODIFIER||||1220|BRPF1|protein_coding|CODING|ENST00000383829|9|T),INTRON(MODIFIER||||1119|BRPF1|protein_coding|CODING|ENST00000433861|8|T),INTRON(MODIFIER||||1213|BRPF1|protein_coding|CODING|ENST00000424362|9|T),INTRON(MODIFIER||||1214|BRPF1|protein_coding|CODING|ENST00000302054|9|T),INTRON(MODIFIER||||1214|BRPF1|protein_coding|CODING|ENST00000457855|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 9787381 Proband 25 G A . . Gene=BRPF1;MT=SNP;MM=CM;CADD=23;VMM=31.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1065M|1220|BRPF1|protein_coding|CODING|ENST00000383829|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V964M|1119|BRPF1|protein_coding|CODING|ENST00000433861|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1058M|1213|BRPF1|protein_coding|CODING|ENST00000424362|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1059M|1214|BRPF1|protein_coding|CODING|ENST00000302054|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1059M|1214|BRPF1|protein_coding|CODING|ENST00000457855|10|A),UPSTREAM(MODIFIER||4247||424|OGG1|protein_coding|CODING|ENST00000302036||A),UPSTREAM(MODIFIER||4247||410|OGG1|protein_coding|CODING|ENST00000302003||A),UPSTREAM(MODIFIER||4247||345|OGG1|protein_coding|CODING|ENST00000344629||A),UPSTREAM(MODIFIER||4247||357|OGG1|protein_coding|CODING|ENST00000349503||A),UPSTREAM(MODIFIER||4284||324|OGG1|protein_coding|CODING|ENST00000339511||A),UPSTREAM(MODIFIER||4321|||OGG1|processed_transcript|CODING|ENST00000436092||A),UPSTREAM(MODIFIER||4375||322|OGG1|protein_coding|CODING|ENST00000449570||A),UPSTREAM(MODIFIER||4376||356|OGG1|protein_coding|CODING|ENST00000302008||A),UPSTREAM(MODIFIER||4386||52|OGG1|nonsense_mediated_decay|CODING|ENST00000425665||A),UPSTREAM(MODIFIER||4390||195|OGG1|protein_coding|CODING|ENST00000383826||A),UPSTREAM(MODIFIER||4649||221|OGG1|protein_coding|CODING|ENST00000441094||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4658||167|OGG1|nonsense_mediated_decay|CODING|ENST00000429146||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1902|||BRPF1|processed_transcript|CODING|ENST00000469066||A),EXON(MODIFIER|||||BRPF1|retained_intron|CODING|ENST00000497565|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 37370566 Proband 25 A T . . Gene=GOLGA4;MT=SNP;MM=CM;CADD=23.3;VMM=38.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R2080S|2243|GOLGA4|protein_coding|CODING|ENST00000356847|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R2058S|2230|GOLGA4|protein_coding|CODING|ENST00000361924|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agT|R1929S|2099|GOLGA4|protein_coding|CODING|ENST00000437131|14|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4116||584|GOLGA4|protein_coding|CODING|ENST00000429018||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||166|GOLGA4|protein_coding|CODING|ENST00000444882|3|T),EXON(MODIFIER|||||GOLGA4|retained_intron|CODING|ENST00000498250|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 37381695 Proband 25 G A . . Gene=GOLGA4;MT=SNP;MM=CM;CADD=14.57;VMM=38.58;EFF=SPLICE_SITE_REGION+INTRON(LOW||||2243|GOLGA4|protein_coding|CODING|ENST00000356847|20|A),SPLICE_SITE_REGION+INTRON(LOW||||2230|GOLGA4|protein_coding|CODING|ENST00000361924|20|A),SPLICE_SITE_REGION+INTRON(LOW||||2099|GOLGA4|protein_coding|CODING|ENST00000437131|18|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1445|||RNA5SP129|rRNA|NON_CODING|ENST00000410276||A),INTRON(MODIFIER||||166|GOLGA4|protein_coding|CODING|ENST00000444882|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48609465 Proband 25 C T . . Gene=COL7A1;MT=SNP;MM=CM;CADD=25.3;VMM=82.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R2346H|2944|COL7A1|protein_coding|CODING|ENST00000328333|91|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R2314H|2912|COL7A1|protein_coding|CODING|ENST00000454817|90|T),UPSTREAM(MODIFIER||4669|||COL7A1|retained_intron|CODING|ENST00000474432||T),UPSTREAM(MODIFIER||1591|||COL7A1|retained_intron|CODING|ENST00000459756||T),UPSTREAM(MODIFIER||1150|||COL7A1|retained_intron|CODING|ENST00000467985||T),UPSTREAM(MODIFIER||406||172|COL7A1|protein_coding|CODING|ENST00000422991||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||702|||COL7A1|retained_intron|CODING|ENST00000462475||T),EXON(MODIFIER|||||COL7A1|retained_intron|CODING|ENST00000487017|57|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48619779 Proband 25 G A . . Gene=COL7A1;MT=SNP;MM=CM;CADD=24.5;VMM=82.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1538C|2944|COL7A1|protein_coding|CODING|ENST00000328333|46|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1538C|2912|COL7A1|protein_coding|CODING|ENST00000454817|46|A),UPSTREAM(MODIFIER||3369|||MIR711|miRNA|NON_CODING|ENST00000390201||A),EXON(MODIFIER|||||COL7A1|retained_intron|CODING|ENST00000487017|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50413252 Proband 25 C T . . Gene=CACNA2D2;MT=SNP;MM=CM;CADD=17.35;VMM=58.25;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1153|CACNA2D2|protein_coding|CODING|ENST00000423994|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1144|CACNA2D2|protein_coding|CODING|ENST00000429770|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1145|CACNA2D2|protein_coding|CODING|ENST00000266039|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1146|CACNA2D2|protein_coding|CODING|ENST00000395083|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1153|CACNA2D2|protein_coding|CODING|ENST00000435965|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K542|1076|CACNA2D2|protein_coding|CODING|ENST00000360963|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1143|CACNA2D2|protein_coding|CODING|ENST00000424201|20|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K611|1150|CACNA2D2|protein_coding|CODING|ENST00000479441|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50413290 Proband 25 C T . . Gene=CACNA2D2;MT=SNP;MM=CM;CADD=27.5;VMM=58.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1153|CACNA2D2|protein_coding|CODING|ENST00000423994|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1144|CACNA2D2|protein_coding|CODING|ENST00000429770|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1145|CACNA2D2|protein_coding|CODING|ENST00000266039|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1146|CACNA2D2|protein_coding|CODING|ENST00000395083|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1153|CACNA2D2|protein_coding|CODING|ENST00000435965|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G530S|1076|CACNA2D2|protein_coding|CODING|ENST00000360963|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1143|CACNA2D2|protein_coding|CODING|ENST00000424201|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G599S|1150|CACNA2D2|protein_coding|CODING|ENST00000479441|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 1737916 Proband 26 T G . . Gene=GNB1;MT=SNP;MM=DN;CADD=24.5;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||340|GNB1|protein_coding|CODING||6|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|340|GNB1|protein_coding|CODING|ENST00000378609|6|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K76Q|162|GNB1|protein_coding|CODING|ENST00000439272|5|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|164|GNB1|protein_coding|CODING|ENST00000434686|7|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|106|GNB1|protein_coding|CODING|ENST00000437146|5|G|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+EXON(LOW|||||GNB1|retained_intron|CODING|ENST00000471354|3|G),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||340|GNB1|protein_coding|CODING||6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 124547894 Proband 26 G T . . Gene=FLJ46361;MT=SNP;MM=DN;CADD=19.3;VMM=0;EFF=DOWNSTREAM(MODIFIER||3299|||DMBT1P1|transcribed_processed_pseudogene|NON_CODING|ENST00000607497||T),INTRON(MODIFIER|||||DMBT1P1|processed_transcript|NON_CODING|ENST00000439464|21|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 27438455 Proband 26 C T . . Gene=IL21R;MT=SNP;MM=CM;CADD=14.33;VMM=37.97;EFF=UPSTREAM(MODIFIER||110||538|IL21R|protein_coding|CODING|ENST00000395754||T),INTRON(MODIFIER||||538|IL21R|protein_coding|CODING|ENST00000337929|1|T),INTRON(MODIFIER||||538|IL21R|protein_coding|CODING|ENST00000564089|2|T),INTRON(MODIFIER||||538|IL21R|protein_coding|CODING|ENST00000395755|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 27460389 Proband 26 C T . . Gene=IL21R;MT=SNP;MM=CM;CADD=23.4;VMM=37.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R468W|538|IL21R|protein_coding|CODING|ENST00000337929|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R468W|538|IL21R|protein_coding|CODING|ENST00000564089|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R468W|538|IL21R|protein_coding|CODING|ENST00000395755|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R468W|538|IL21R|protein_coding|CODING|ENST00000395754|9|T),DOWNSTREAM(MODIFIER||4378|||IL21R|retained_intron|CODING|ENST00000561953||T),DOWNSTREAM(MODIFIER||394|||IL21R|processed_transcript|CODING|ENST00000564583||T),EXON(MODIFIER|||||IL21R-AS1|antisense|NON_CODING|ENST00000563191|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 216229941 Proband 26 T G . . Gene=FN1;MT=SNP;MM=CM;CADD=15.45;VMM=52.27;EFF=UPSTREAM(MODIFIER||1578|||FN1|retained_intron|CODING|ENST00000498719||G),DOWNSTREAM(MODIFIER||2461|||FN1|retained_intron|CODING|ENST00000480024||G),INTRON(MODIFIER||||2477|FN1|protein_coding|CODING|ENST00000354785|43|G),INTRON(MODIFIER||||2240|FN1|protein_coding|CODING|ENST00000421182|42|G),INTRON(MODIFIER||||2446|FN1|protein_coding|CODING|ENST00000323926|44|G),INTRON(MODIFIER||||2355|FN1|protein_coding|CODING|ENST00000336916|43|G),INTRON(MODIFIER||||2176|FN1|protein_coding|CODING|ENST00000357867|41|G),INTRON(MODIFIER||||2184|FN1|protein_coding|CODING|ENST00000345488|40|G),INTRON(MODIFIER||||2211|FN1|protein_coding|CODING|ENST00000346544|41|G),INTRON(MODIFIER||||2031|FN1|protein_coding|CODING|ENST00000357009|41|G),INTRON(MODIFIER||||2386|FN1|protein_coding|CODING|ENST00000359671|42|G),INTRON(MODIFIER|||||FN1|retained_intron|CODING|ENST00000492816|16|G),INTRON(MODIFIER||||2330|FN1|protein_coding|CODING|ENST00000446046|43|G),INTRON(MODIFIER||||2265|FN1|protein_coding|CODING|ENST00000443816|42|G),INTRON(MODIFIER||||2267|FN1|protein_coding|CODING|ENST00000432072|42|G),INTRON(MODIFIER||||2296|FN1|protein_coding|CODING|ENST00000356005|41|G),INTRON(MODIFIER||||1103|FN1|protein_coding|CODING|ENST00000456923|18|G),INTRON(MODIFIER|||||FN1|retained_intron|CODING|ENST00000494446|1|G),INTRON(MODIFIER|||||FN1|retained_intron|CODING|ENST00000469569|1|G),INTRON(MODIFIER|||||FN1|retained_intron|CODING|ENST00000473614|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 216251538 Proband 26 G A . . Gene=FN1;MT=SNP;MM=CM;CADD=28.6;VMM=52.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1496W|2477|FN1|protein_coding|CODING|ENST00000354785|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2240|FN1|protein_coding|CODING|ENST00000421182|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1496W|2446|FN1|protein_coding|CODING|ENST00000323926|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2355|FN1|protein_coding|CODING|ENST00000336916|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2176|FN1|protein_coding|CODING|ENST00000357867|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2184|FN1|protein_coding|CODING|ENST00000345488|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2211|FN1|protein_coding|CODING|ENST00000346544|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2031|FN1|protein_coding|CODING|ENST00000357009|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2386|FN1|protein_coding|CODING|ENST00000359671|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2330|FN1|protein_coding|CODING|ENST00000446046|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2265|FN1|protein_coding|CODING|ENST00000443816|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1496W|2267|FN1|protein_coding|CODING|ENST00000432072|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1405W|2296|FN1|protein_coding|CODING|ENST00000356005|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R212W|1103|FN1|protein_coding|CODING|ENST00000456923|4|A),UPSTREAM(MODIFIER||3332|||FN1|processed_transcript|CODING|ENST00000490833||A),UPSTREAM(MODIFIER||2735|||FN1|retained_intron|CODING|ENST00000480737||A),EXON(MODIFIER|||||FN1|retained_intron|CODING|ENST00000492816|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 63996606 Proband 26 C T . . Gene=PSMD6;MT=SNP;MM=CM;CADD=35;VMM=58.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G394R|442|PSMD6|protein_coding|CODING|ENST00000492933|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G341R|389|PSMD6|protein_coding|CODING|ENST00000295901|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G303R|351|PSMD6|protein_coding|CODING|ENST00000394431|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G302R|350|PSMD6|protein_coding|CODING|ENST00000482510|7|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P131|137|PSMD6|protein_coding|CODING|ENST00000480205|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2238|||RP11-245J9.5|lincRNA|NON_CODING|ENST00000607115||T),UPSTREAM(MODIFIER||1034|||RP11-245J9.4|antisense|NON_CODING|ENST00000462717||T),INTRON(MODIFIER|||||PSMD6-AS2|antisense|NON_CODING|ENST00000472046|2|T),EXON(MODIFIER|||||PSMD6|retained_intron|CODING|ENST00000467853|2|T),EXON(MODIFIER|||||PSMD6|retained_intron|CODING|ENST00000463139|1|T),EXON(MODIFIER|||||PSMD6|retained_intron|CODING|ENST00000476464|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 64004228 Proband 26 G C . . Gene=PSMD6;MT=SNP;MM=CM;CADD=14.2;VMM=58.37;EFF=UPSTREAM(MODIFIER||956|||RP11-245J9.6|antisense|NON_CODING|ENST00000605919||C),UPSTREAM(MODIFIER||820|||PSMD6|retained_intron|CODING|ENST00000467853||C),DOWNSTREAM(MODIFIER||2306|||RP11-245J9.4|antisense|NON_CODING|ENST00000462717||C),DOWNSTREAM(MODIFIER||111|||PSMD6|retained_intron|CODING|ENST00000475036||C),DOWNSTREAM(MODIFIER||347||225|PSMD6|protein_coding|CODING|ENST00000497323||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||872||143|PSMD6|protein_coding|CODING|ENST00000478185||C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||442|PSMD6|protein_coding|CODING|ENST00000492933|6|C),INTRON(MODIFIER||||389|PSMD6|protein_coding|CODING|ENST00000295901|5|C),INTRON(MODIFIER||||137|PSMD6|protein_coding|CODING|ENST00000480205|3|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||PSMD6|retained_intron|CODING|ENST00000476464|4|C),INTRON(MODIFIER||||351|PSMD6|protein_coding|CODING|ENST00000394431|5|C),INTRON(MODIFIER||||350|PSMD6|protein_coding|CODING|ENST00000482510|5|C),EXON(MODIFIER|||||PSMD6|retained_intron|CODING|ENST00000497315|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 1945200 Proband 26 C G . . Gene=WHSC1;MT=SNP;MM=CM;CADD=20.7;VMM=45.06;EFF=UTR_3_PRIME(MODIFIER||1072||647|WHSC1|protein_coding|CODING|ENST00000503128|10|G),UTR_3_PRIME(MODIFIER||1072||647|WHSC1|protein_coding|CODING|ENST00000398261|9|G),DOWNSTREAM(MODIFIER||1723||629|WHSC1|protein_coding|CODING|ENST00000514045||G),DOWNSTREAM(MODIFIER||898||629|WHSC1|protein_coding|CODING|ENST00000420906||G),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382891|9|G),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000508803|9|G),INTRON(MODIFIER||||647|WHSC1|nonsense_mediated_decay|CODING|ENST00000353275|12|G),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382892|10|G),INTRON(MODIFIER||||647|WHSC1|nonsense_mediated_decay|CODING|ENST00000312087|12|G),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382895|11|G),INTRON(MODIFIER||||163|WHSC1|nonsense_mediated_decay|CODING|ENST00000511904|4|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000513726|2|G),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000482415|1|G),INTRON(MODIFIER||||282|WHSC1|protein_coding|CODING|ENST00000514329|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000502425|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 1950495 Proband 26 G A . . Gene=WHSC1;MT=SNP;MM=CM;CADD=18.44;VMM=45.06;EFF=UTR_3_PRIME(MODIFIER||6367||647|WHSC1|protein_coding|CODING|ENST00000503128|10|A),UTR_3_PRIME(MODIFIER||6367||647|WHSC1|protein_coding|CODING|ENST00000398261|9|A),UPSTREAM(MODIFIER||3337|||WHSC1|processed_transcript|CODING|ENST00000505643||A),UPSTREAM(MODIFIER||3337||713|WHSC1|protein_coding|CODING|ENST00000382888||A),UPSTREAM(MODIFIER||4350|||WHSC1|processed_transcript|CODING|ENST00000503207||A),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382891|9|A),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000508803|9|A),INTRON(MODIFIER||||647|WHSC1|nonsense_mediated_decay|CODING|ENST00000353275|12|A),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382892|10|A),INTRON(MODIFIER||||647|WHSC1|nonsense_mediated_decay|CODING|ENST00000312087|12|A),INTRON(MODIFIER||||1365|WHSC1|protein_coding|CODING|ENST00000382895|11|A),INTRON(MODIFIER||||163|WHSC1|nonsense_mediated_decay|CODING|ENST00000511904|4|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000513726|2|A),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000482415|1|A),INTRON(MODIFIER||||282|WHSC1|protein_coding|CODING|ENST00000514329|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||WHSC1|processed_transcript|CODING|ENST00000502425|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 137593098 Proband 26 C T . . Gene=COL5A1;MT=SNP;MM=CM;CADD=15.24;VMM=36.54;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L191|1838|COL5A1|protein_coding|CODING|ENST00000371817|4|T),EXON(MODIFIER|||||COL5A1|processed_transcript|CODING|ENST00000464187|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 137734022 Proband 26 A G . . Gene=COL5A1;MT=SNP;MM=CM;CADD=21.1;VMM=36.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K1797R|1838|COL5A1|protein_coding|CODING|ENST00000371817|66|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 52903766 Proband 27 C G . . Gene=ZCCHC11;MT=SNP;MM=CM;CADD=14.79;VMM=44;EFF=UPSTREAM(MODIFIER||3424|||ZCCHC11|retained_intron|CODING|ENST00000466440||G),UPSTREAM(MODIFIER||839|||ZCCHC11|retained_intron|CODING|ENST00000470212||G),INTRON(MODIFIER||||1645|ZCCHC11|protein_coding|CODING|ENST00000257177|25|G),INTRON(MODIFIER||||1644|ZCCHC11|protein_coding|CODING|ENST00000371544|25|G),INTRON(MODIFIER||||337|ZCCHC11|protein_coding|CODING|ENST00000531722|5|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||335|ZCCHC11|protein_coding|CODING|ENST00000474453|5|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ZCCHC11|retained_intron|CODING|ENST00000469810|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 52940845 Proband 27 C A . . Gene=ZCCHC11;MT=SNP;MM=CM;CADD=25.8;VMM=44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D796Y|1645|ZCCHC11|protein_coding|CODING|ENST00000257177|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D796Y|1644|ZCCHC11|protein_coding|CODING|ENST00000371544|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D725Y|1202|ZCCHC11|protein_coding|CODING|ENST00000528642|12|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D555Y|905|ZCCHC11|protein_coding|CODING|ENST00000484723|13|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2565||343|ZCCHC11|nonsense_mediated_decay|CODING|ENST00000473856||A),EXON(MODIFIER|||||ZCCHC11|processed_transcript|CODING|ENST00000371541|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 8132096 Proband 27 G C . . Gene=RIC3;MT=SNP;MM=CM;CADD=11.44;VMM=30.85;EFF=UTR_3_PRIME(MODIFIER||149||369|RIC3|protein_coding|CODING|ENST00000309737|6|C),UTR_3_PRIME(MODIFIER||149||207|RIC3|protein_coding|CODING|ENST00000396677|3|C),UTR_3_PRIME(MODIFIER||149||187|RIC3|protein_coding|CODING|ENST00000335425|2|C),UTR_3_PRIME(MODIFIER||149||368|RIC3|protein_coding|CODING|ENST00000343202|6|C),UTR_3_PRIME(MODIFIER||16242||45|RIC3|nonsense_mediated_decay|CODING|ENST00000526962|3|C),DOWNSTREAM(MODIFIER||4437||561|TUB|protein_coding|CODING|ENST00000305253||C),DOWNSTREAM(MODIFIER||116||43|RIC3|nonsense_mediated_decay|CODING|ENST00000528463||C),DOWNSTREAM(MODIFIER||116||320|RIC3|protein_coding|CODING|ENST00000539720||C),DOWNSTREAM(MODIFIER||149||288|RIC3|protein_coding|CODING|ENST00000425599||C),DOWNSTREAM(MODIFIER||358||327|RIC3|protein_coding|CODING|ENST00000531450||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000524799|4|C),EXON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000530060|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 8159884 Proband 27 C G . . Gene=RIC3;MT=SNP;MM=CM;CADD=25.1;VMM=30.85;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G121A|369|RIC3|protein_coding|CODING|ENST00000309737|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G121A|368|RIC3|protein_coding|CODING|ENST00000343202|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G72A|320|RIC3|protein_coding|CODING|ENST00000539720|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G121A|288|RIC3|protein_coding|CODING|ENST00000425599|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G121A|327|RIC3|protein_coding|CODING|ENST00000531450|3|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||15079||43|RIC3|nonsense_mediated_decay|CODING|ENST00000528463|4|G),DOWNSTREAM(MODIFIER||717||128|RIC3|protein_coding|CODING|ENST00000419822||G),INTRON(MODIFIER||||187|RIC3|protein_coding|CODING|ENST00000335425|1|G),INTRON(MODIFIER||||45|RIC3|nonsense_mediated_decay|CODING|ENST00000526962|1|G),EXON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000524799|1|G),EXON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000530060|1|G),EXON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000529271|1|G),EXON(MODIFIER|||||RIC3|processed_transcript|CODING|ENST00000529035|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 100141950 Proband 27 G A . . Gene=CNTN5;MT=SNP;MM=CM;CADD=28.1;VMM=95.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R764Q|1100|CNTN5|protein_coding|CODING|ENST00000279463|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R764Q|911|CNTN5|protein_coding|CODING|ENST00000527185|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R764Q|1100|CNTN5|protein_coding|CODING|ENST00000528682|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R764Q|1100|CNTN5|protein_coding|CODING|ENST00000524871|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R690Q|1026|CNTN5|protein_coding|CODING|ENST00000418526|15|A),EXON(MODIFIER|||||CNTN5|processed_transcript|CODING|ENST00000524560|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 100168410 Proband 27 T A . . Gene=CNTN5;MT=SNP;MM=CM;CADD=24.6;VMM=95.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Ata|L790I|1100|CNTN5|protein_coding|CODING|ENST00000279463|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Ata|L790I|911|CNTN5|protein_coding|CODING|ENST00000527185|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Ata|L790I|1100|CNTN5|protein_coding|CODING|ENST00000528682|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Ata|L790I|1100|CNTN5|protein_coding|CODING|ENST00000524871|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tta/Ata|L716I|1026|CNTN5|protein_coding|CODING|ENST00000418526|16|A),EXON(MODIFIER|||||CNTN5|processed_transcript|CODING|ENST00000524560|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 132326206 Proband 27 C T . . Gene=MMP17;MT=SNP;MM=CM;CADD=16.91;VMM=53;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H248|603|MMP17|protein_coding|CODING|ENST00000360564|5|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H144|168|MMP17|protein_coding|CODING|ENST00000545671|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H164|519|MMP17|protein_coding|CODING|ENST00000535291|4|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H89|301|MMP17|protein_coding|CODING|ENST00000534865|2|T|WARNING_TRANSCRIPT_INCOMPLETE),NEXT_PROT[metal-binding-site:Zinc](LOW||||603|MMP17|protein_coding|CODING||5|T),UPSTREAM(MODIFIER||107|||MMP17|retained_intron|CODING|ENST00000542142||T),UPSTREAM(MODIFIER||3209||39|MMP17|nonsense_mediated_decay|CODING|ENST00000537848||T),UPSTREAM(MODIFIER||3300||117|MMP17|protein_coding|CODING|ENST00000542648||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3634||143|MMP17|protein_coding|CODING|ENST00000535004||T),DOWNSTREAM(MODIFIER||914||114|MMP17|protein_coding|CODING|ENST00000545790||T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||MMP17|processed_transcript|CODING|ENST00000535182|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 132334436 Proband 27 G A . . Gene=MMP17;MT=SNP;MM=CM;CADD=26.1;VMM=53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D432N|603|MMP17|protein_coding|CODING|ENST00000360564|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D348N|519|MMP17|protein_coding|CODING|ENST00000535291|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D273N|301|MMP17|protein_coding|CODING|ENST00000534865|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D62N|117|MMP17|protein_coding|CODING|ENST00000542648|3|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4500|||MMP17|processed_transcript|CODING|ENST00000535182||A),INTRON(MODIFIER||||39|MMP17|nonsense_mediated_decay|CODING|ENST00000537848|2|A),INTRON(MODIFIER||||143|MMP17|protein_coding|CODING|ENST00000535004|1|A),EXON(MODIFIER|||||MMP17|retained_intron|CODING|ENST00000535271|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195478082 Proband 27 G A . . Gene=MUC4;MT=SNP;MM=CM;CADD=38;VMM=41.63;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R5215*|5412|MUC4|protein_coding|CODING|ENST00000463781|22|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R979*|1176|MUC4|protein_coding|CODING|ENST00000346145|21|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R928*|1125|MUC4|protein_coding|CODING|ENST00000349607|20|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R5163*|5360|MUC4|protein_coding|CODING|ENST00000475231|21|A),UTR_3_PRIME(MODIFIER||19124||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466|20|A),UTR_3_PRIME(MODIFIER||19124||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251|21|A),UTR_3_PRIME(MODIFIER||19124||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407|20|A),UTR_3_PRIME(MODIFIER||19124||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455|20|A),UTR_3_PRIME(MODIFIER||19669||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861|21|A),UTR_3_PRIME(MODIFIER||1975||5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|21|A),UTR_3_PRIME(MODIFIER||15509||4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|21|A),UTR_3_PRIME(MODIFIER||19124||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|22|A),UTR_3_PRIME(MODIFIER||15475||4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|21|A),UTR_3_PRIME(MODIFIER||19124||4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|22|A),UTR_3_PRIME(MODIFIER||15509||4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|22|A),UTR_3_PRIME(MODIFIER||19124||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|20|A),UTR_3_PRIME(MODIFIER||15509||4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|21|A),EXON(MODIFIER|||||MUC4|retained_intron|CODING|ENST00000464234|3|A),EXON(MODIFIER|||||MUC4|retained_intron|CODING|ENST00000467235|1|A),EXON(MODIFIER|||||MUC4|retained_intron|CODING|ENST00000469992|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195510082 Proband 27 G A . . Gene=MUC4;MT=SNP;MM=CM;CADD=10.48;VMM=41.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|5412|MUC4|protein_coding|CODING|ENST00000463781|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|5360|MUC4|protein_coding|CODING|ENST00000475231|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P2790L|4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|2|A),UPSTREAM(MODIFIER||4401||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466||A),UPSTREAM(MODIFIER||4401||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251||A),UPSTREAM(MODIFIER||4401||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407||A),UPSTREAM(MODIFIER||4401||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455||A),UPSTREAM(MODIFIER||4401||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861||A),INTRON(MODIFIER||||1176|MUC4|protein_coding|CODING|ENST00000346145|1|A),INTRON(MODIFIER||||1125|MUC4|protein_coding|CODING|ENST00000349607|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136582401 Proband 27 A T . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=22.2;VMM=105.83;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||920|BCLAF1|protein_coding|CODING|ENST00000531224|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000353331|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH||||871|BCLAF1|protein_coding|CODING|ENST00000527536|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|T),SPLICE_SITE_DONOR+INTRON(HIGH||||747|BCLAF1|protein_coding|CODING|ENST00000530767|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||918|BCLAF1|protein_coding|CODING|ENST00000527759|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|T),SPLICE_SITE_DONOR+INTRON(HIGH||||138|BCLAF1|protein_coding|CODING|ENST00000031135|4|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||186|BCLAF1|protein_coding|CODING|ENST00000534762|4|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000392348|9|T),DOWNSTREAM(MODIFIER||38|||BCLAF1|retained_intron|CODING|ENST00000526228||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136582549 Proband 27 G A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=34;VMM=105.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R871C|920|BCLAF1|protein_coding|CODING|ENST00000531224|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000353331|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R76C|125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R822C|871|BCLAF1|protein_coding|CODING|ENST00000527536|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R698C|747|BCLAF1|protein_coding|CODING|ENST00000530767|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R869C|918|BCLAF1|protein_coding|CODING|ENST00000527759|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R89C|138|BCLAF1|protein_coding|CODING|ENST00000031135|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R137C|186|BCLAF1|protein_coding|CODING|ENST00000534762|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000392348|9|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|A),UTR_3_PRIME(MODIFIER||12702||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|A),UTR_3_PRIME(MODIFIER||7853||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|A),EXON(MODIFIER|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000526228|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 69481071 Proband 28 G C . . Gene=CYB5B;MT=SNP;MM=HR;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V65L|150|CYB5B|protein_coding|CODING|ENST00000307892|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V61L|146|CYB5B|protein_coding|CODING|ENST00000512062|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V61L|131|CYB5B|protein_coding|CODING|ENST00000515314|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V61L|140|CYB5B|protein_coding|CODING|ENST00000561792|2|C),UPSTREAM(MODIFIER||2878|||RP11-343C2.10|processed_pseudogene|NON_CODING|ENST00000562497||C),INTRON(MODIFIER||||64|CYB5B|protein_coding|CODING|ENST00000568237|1|C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CYB5B|retained_intron|CODING|ENST00000514123|2|C),EXON(MODIFIER|||||CYB5B|retained_intron|CODING|ENST00000568342|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 35724840 Proband 28 G C . . Gene=TLN1;MT=SNP;MM=DN;CADD=24.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I115M|2541|TLN1|protein_coding|CODING|ENST00000314888|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I115M|2429|TLN1|protein_coding|CODING|ENST00000540444|4|C),EXON(MODIFIER|||||TLN1|retained_intron|CODING|ENST00000378192|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 130413002 Proband 28 T A . . Gene=IGSF1;MT=SNP;MM=XL;CADD=16.01;VMM=0;EFF=UPSTREAM(MODIFIER||1511|||IGSF1|processed_transcript|CODING|ENST00000467244||A),DOWNSTREAM(MODIFIER||1941|||IGSF1|processed_transcript|CODING|ENST00000469836||A),INTRON(MODIFIER||||1341|IGSF1|protein_coding|CODING|ENST00000370903|11|A),INTRON(MODIFIER||||1327|IGSF1|protein_coding|CODING|ENST00000370910|10|A),INTRON(MODIFIER||||1336|IGSF1|protein_coding|CODING|ENST00000361420|11|A),INTRON(MODIFIER||||1327|IGSF1|protein_coding|CODING|ENST00000370904|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 130413002 Proband 28 T A . . Gene=IGSF1;MT=SNP;MM=XL;CADD=16.01;VMM=0;EFF=UPSTREAM(MODIFIER||1511|||IGSF1|processed_transcript|CODING|ENST00000467244||A),DOWNSTREAM(MODIFIER||1941|||IGSF1|processed_transcript|CODING|ENST00000469836||A),INTRON(MODIFIER||||1341|IGSF1|protein_coding|CODING|ENST00000370903|11|A),INTRON(MODIFIER||||1327|IGSF1|protein_coding|CODING|ENST00000370910|10|A),INTRON(MODIFIER||||1336|IGSF1|protein_coding|CODING|ENST00000361420|11|A),INTRON(MODIFIER||||1327|IGSF1|protein_coding|CODING|ENST00000370904|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 51853888 Proband 28 A G . . Gene=SLC4A8;MT=SNP;MM=CM;CADD=23.7;VMM=43.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T337A|1093|SLC4A8|protein_coding|CODING|ENST00000453097|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T284A|638|SLC4A8|protein_coding|CODING|ENST00000535225|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T364A|1071|SLC4A8|protein_coding|CODING|ENST00000358657|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T284A|747|SLC4A8|protein_coding|CODING|ENST00000394856|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T284A|747|SLC4A8|protein_coding|CODING|ENST00000514353|8|G),UPSTREAM(MODIFIER||1114|||SLC4A8|processed_transcript|CODING|ENST00000550211||G),DOWNSTREAM(MODIFIER||2661|||SLC4A8|retained_intron|CODING|ENST00000552001||G),EXON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000604314|10|G),EXON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000547697|9|G),EXON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000319957|8|G),EXON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000551071|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 51855937 Proband 28 T G . . Gene=SLC4A8;MT=SNP;MM=CM;CADD=15.81;VMM=43.55;EFF=DOWNSTREAM(MODIFIER||4710|||SLC4A8|retained_intron|CODING|ENST00000552001||G),INTRON(MODIFIER||||1093|SLC4A8|protein_coding|CODING|ENST00000453097|9|G),INTRON(MODIFIER||||638|SLC4A8|protein_coding|CODING|ENST00000535225|9|G),INTRON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000604314|11|G),INTRON(MODIFIER||||1071|SLC4A8|protein_coding|CODING|ENST00000358657|9|G),INTRON(MODIFIER||||747|SLC4A8|protein_coding|CODING|ENST00000394856|9|G),INTRON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000319957|9|G),INTRON(MODIFIER||||747|SLC4A8|protein_coding|CODING|ENST00000514353|9|G),INTRON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000551071|8|G),INTRON(MODIFIER|||||SLC4A8|processed_transcript|CODING|ENST00000550211|1|G),EXON(MODIFIER|||||SLC4A8|retained_intron|CODING|ENST00000547697|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42028820 Proband 28 A G . . Gene=MGA;MT=SNP;MM=CM;CADD=22.2;VMM=33.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1453C|3065|MGA|protein_coding|CODING|ENST00000219905|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1453C|3026|MGA|protein_coding|CODING|ENST00000389936|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1453C|2856|MGA|protein_coding|CODING|ENST00000545763|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1453C|2856|MGA|protein_coding|CODING|ENST00000566586|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1453C|3065|MGA|protein_coding|CODING|ENST00000570161|12|G),NEXT_PROT[modified-residue:phosphotyrosine](MODERATE||||2856|MGA|protein_coding|CODING||12|G),NEXT_PROT[modified-residue:phosphotyrosine](MODERATE||||3065|MGA|protein_coding|CODING||12|G),INTRON(MODIFIER||||1172|MGA|protein_coding|CODING|ENST00000564190|2|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42059629 Proband 28 T C . . Gene=MGA;MT=SNP;MM=CM;CADD=13.49;VMM=33.3;EFF=UTR_3_PRIME(MODIFIER||151||3065|MGA|protein_coding|CODING|ENST00000219905|24|C),UTR_3_PRIME(MODIFIER||151||3026|MGA|protein_coding|CODING|ENST00000389936|25|C),UTR_3_PRIME(MODIFIER||151||2856|MGA|protein_coding|CODING|ENST00000545763|23|C),UTR_3_PRIME(MODIFIER||151||2856|MGA|protein_coding|CODING|ENST00000566586|22|C),UTR_3_PRIME(MODIFIER||151||3065|MGA|protein_coding|CODING|ENST00000570161|23|C),DOWNSTREAM(MODIFIER||3501|||RP11-107F6.3|lincRNA|NON_CODING|ENST00000562063||C),DOWNSTREAM(MODIFIER||3325|||RP11-107F6.3|lincRNA|NON_CODING|ENST00000607504||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 4873358 Proband 28 G A . . Gene=CAMTA2;MT=SNP;MM=CM;CADD=28.1;VMM=77.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1033C|1241|CAMTA2|protein_coding|CODING|ENST00000414043|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1010C|1195|CAMTA2|protein_coding|CODING|ENST00000358183|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1009C|1201|CAMTA2|protein_coding|CODING|ENST00000361571|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1015C|1207|CAMTA2|protein_coding|CODING|ENST00000572543|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1012C|1197|CAMTA2|protein_coding|CODING|ENST00000381311|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1010C|1202|CAMTA2|protein_coding|CODING|ENST00000348066|18|A),UTR_3_PRIME(MODIFIER||11761||161|CAMTA2|nonsense_mediated_decay|CODING|ENST00000574951|17|A),UPSTREAM(MODIFIER||2191||227|SPAG7|protein_coding|CODING|ENST00000206020||A),UPSTREAM(MODIFIER||2788|||RP5-1050D4.2|antisense|NON_CODING|ENST00000430920||A),UPSTREAM(MODIFIER||2273||194|SPAG7|protein_coding|CODING|ENST00000575142||A),UPSTREAM(MODIFIER||2872||176|SPAG7|protein_coding|CODING|ENST00000573366||A),UPSTREAM(MODIFIER||2274||87|SPAG7|nonsense_mediated_decay|CODING|ENST00000575784||A),UPSTREAM(MODIFIER||2278|||SPAG7|retained_intron|CODING|ENST00000573805||A),UPSTREAM(MODIFIER||2255|||SPAG7|processed_transcript|CODING|ENST00000571023||A),UPSTREAM(MODIFIER||3314|||SPAG7|processed_transcript|CODING|ENST00000570341||A),UPSTREAM(MODIFIER||982|||CAMTA2|retained_intron|CODING|ENST00000572192||A),UPSTREAM(MODIFIER||648|||CAMTA2|retained_intron|CODING|ENST00000574442||A),DOWNSTREAM(MODIFIER||1241|||RP5-1050D4.3|antisense|NON_CODING|ENST00000576752||A),DOWNSTREAM(MODIFIER||2888|||CAMTA2|processed_transcript|CODING|ENST00000572326||A),DOWNSTREAM(MODIFIER||3985|||CAMTA2|retained_intron|CODING|ENST00000575192||A),EXON(MODIFIER|||||CAMTA2|retained_intron|CODING|ENST00000576872|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 4873725 Proband 28 C T . . Gene=CAMTA2;MT=SNP;MM=CM;CADD=21;VMM=77.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R995Q|1241|CAMTA2|protein_coding|CODING|ENST00000414043|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R972Q|1195|CAMTA2|protein_coding|CODING|ENST00000358183|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R971Q|1201|CAMTA2|protein_coding|CODING|ENST00000361571|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R977Q|1207|CAMTA2|protein_coding|CODING|ENST00000572543|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R974Q|1197|CAMTA2|protein_coding|CODING|ENST00000381311|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R972Q|1202|CAMTA2|protein_coding|CODING|ENST00000348066|17|T),UTR_3_PRIME(MODIFIER||11394||161|CAMTA2|nonsense_mediated_decay|CODING|ENST00000574951|16|T),UPSTREAM(MODIFIER||2558||227|SPAG7|protein_coding|CODING|ENST00000206020||T),UPSTREAM(MODIFIER||2421|||RP5-1050D4.2|antisense|NON_CODING|ENST00000430920||T),UPSTREAM(MODIFIER||2640||194|SPAG7|protein_coding|CODING|ENST00000575142||T),UPSTREAM(MODIFIER||3239||176|SPAG7|protein_coding|CODING|ENST00000573366||T),UPSTREAM(MODIFIER||2641||87|SPAG7|nonsense_mediated_decay|CODING|ENST00000575784||T),UPSTREAM(MODIFIER||2645|||SPAG7|retained_intron|CODING|ENST00000573805||T),UPSTREAM(MODIFIER||2622|||SPAG7|processed_transcript|CODING|ENST00000571023||T),UPSTREAM(MODIFIER||3681|||SPAG7|processed_transcript|CODING|ENST00000570341||T),UPSTREAM(MODIFIER||1349|||CAMTA2|retained_intron|CODING|ENST00000572192||T),UPSTREAM(MODIFIER||1015|||CAMTA2|retained_intron|CODING|ENST00000574442||T),DOWNSTREAM(MODIFIER||1608|||RP5-1050D4.3|antisense|NON_CODING|ENST00000576752||T),DOWNSTREAM(MODIFIER||2521|||CAMTA2|processed_transcript|CODING|ENST00000572326||T),DOWNSTREAM(MODIFIER||3618|||CAMTA2|retained_intron|CODING|ENST00000575192||T),EXON(MODIFIER|||||CAMTA2|retained_intron|CODING|ENST00000576872|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 99817878 Proband 28 C T . . Gene=PVRIG;MT=SNP;MM=CM;CADD=11.51;VMM=42.35;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T87M|326|PVRIG|protein_coding|CODING|ENST00000317271|3|T),UTR_3_PRIME(MODIFIER||1582||172|STAG3|nonsense_mediated_decay|CODING|ENST00000451963|7|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||135|||AC005071.1|miRNA|NON_CODING|ENST00000410550||T),DOWNSTREAM(MODIFIER||920|||PVRIG|processed_transcript|CODING|ENST00000471803||T),DOWNSTREAM(MODIFIER||2342|||GATS|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000292369||T),DOWNSTREAM(MODIFIER||2390|||GATS|processed_transcript|NON_CODING|ENST00000538588||T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000543273|5|T),INTRON(MODIFIER||||163|GATS|protein_coding|CODING|ENST00000436886|4|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000440058|2|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000437485|1|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000454084|4|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000435519|5|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000328453|5|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000414739|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 99818851 Proband 28 G T . . Gene=PVRIG;MT=SNP;MM=CM;CADD=34;VMM=42.35;EFF=STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E320*|326|PVRIG|protein_coding|CODING|ENST00000317271|6|T),UTR_3_PRIME(MODIFIER||2555||172|STAG3|nonsense_mediated_decay|CODING|ENST00000451963|9|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1108|||AC005071.1|miRNA|NON_CODING|ENST00000410550||T),DOWNSTREAM(MODIFIER||1893|||PVRIG|processed_transcript|CODING|ENST00000471803||T),DOWNSTREAM(MODIFIER||1369|||GATS|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000292369||T),DOWNSTREAM(MODIFIER||1417|||GATS|processed_transcript|NON_CODING|ENST00000538588||T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000543273|5|T),INTRON(MODIFIER||||163|GATS|protein_coding|CODING|ENST00000436886|4|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000440058|2|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000437485|1|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000454084|4|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000435519|5|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000328453|5|T),INTRON(MODIFIER|||||GATS|processed_transcript|NON_CODING|ENST00000414739|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 21296062 Proband 29 C G . . Gene=EIF4G3;MT=SNP;MM=DN;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G158R|1591|EIF4G3|protein_coding|CODING|ENST00000374937|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G151R|1585|EIF4G3|protein_coding|CODING|ENST00000264211|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G151R|1585|EIF4G3|protein_coding|CODING|ENST00000400422|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G158R|1591|EIF4G3|protein_coding|CODING|ENST00000602326|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G151R|1305|EIF4G3|protein_coding|CODING|ENST00000374935|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G162R|515|EIF4G3|protein_coding|CODING|ENST00000356916|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G151R|504|EIF4G3|protein_coding|CODING|ENST00000374927|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G151R|216|EIF4G3|protein_coding|CODING|ENST00000438975|9|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G189R|219|EIF4G3|protein_coding|CODING|ENST00000411888|9|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||27772||1189|EIF4G3|protein_coding|CODING|ENST00000536266|2|G),DOWNSTREAM(MODIFIER||3478|||EIF4G3|processed_transcript|CODING|ENST00000476088||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 7009313 Proband 29 T C . . Gene=LAMA1;MT=SNP;MM=CM;CADD=27;VMM=145.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D1309G|3075|LAMA1|protein_coding|CODING|ENST00000389658|27|C),EXON(MODIFIER|||||LAMA1|retained_intron|CODING|ENST00000579014|26|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 7049171 Proband 29 C T . . Gene=LAMA1;MT=SNP;MM=CM;CADD=35;VMM=145.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R225H|3075|LAMA1|protein_coding|CODING|ENST00000389658|5|T),EXON(MODIFIER|||||LAMA1|retained_intron|CODING|ENST00000579014|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 168098296 Proband 29 C T . . Gene=XIRP2;MT=SNP;MM=CM;CADD=22.5;VMM=68.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T351I|3549|XIRP2|protein_coding|CODING|ENST00000295237|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T351I|938|XIRP2|protein_coding|CODING|ENST00000409043|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T384I|971|XIRP2|protein_coding|CODING|ENST00000409728|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T351I|3549|XIRP2|protein_coding|CODING|ENST00000409195|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T351I|938|XIRP2|protein_coding|CODING|ENST00000409756|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T384I|971|XIRP2|protein_coding|CODING|ENST00000420519|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T129I|3327|XIRP2|protein_coding|CODING|ENST00000409273|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T129I|716|XIRP2|protein_coding|CODING|ENST00000409605|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 168103997 Proband 29 G A . . Gene=XIRP2;MT=SNP;MM=CM;CADD=23.8;VMM=68.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R2032H|3549|XIRP2|protein_coding|CODING|ENST00000295237|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R2032H|3549|XIRP2|protein_coding|CODING|ENST00000409195|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1810H|3327|XIRP2|protein_coding|CODING|ENST00000409273|7|A),INTRON(MODIFIER||||938|XIRP2|protein_coding|CODING|ENST00000409043|8|A),INTRON(MODIFIER||||971|XIRP2|protein_coding|CODING|ENST00000409728|9|A),INTRON(MODIFIER||||938|XIRP2|protein_coding|CODING|ENST00000409756|7|A),INTRON(MODIFIER||||971|XIRP2|protein_coding|CODING|ENST00000420519|8|A),INTRON(MODIFIER||||716|XIRP2|protein_coding|CODING|ENST00000409605|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 15471833 Proband 29 T C . . Gene=CC2D2A;MT=SNP;MM=CM;CADD=14.14;VMM=43.82;EFF=INTRON(MODIFIER||||1620|CC2D2A|protein_coding|CODING|ENST00000413206|1|C),INTRON(MODIFIER||||122|CC2D2A|protein_coding|CODING|ENST00000438599|1|C),INTRON(MODIFIER||||1620|CC2D2A|protein_coding|CODING|ENST00000424120|1|C),INTRON(MODIFIER||||122|CC2D2A|protein_coding|CODING|ENST00000511544|1|C),INTRON(MODIFIER||||587|CC2D2A|protein_coding|CODING|ENST00000512702|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||CC2D2A|processed_transcript|CODING|ENST00000513811|1|C),INTRON(MODIFIER||||111|CC2D2A|protein_coding|CODING|ENST00000507954|1|C),INTRON(MODIFIER||||111|CC2D2A|protein_coding|CODING|ENST00000515124|1|C),INTRON(MODIFIER|||||CC2D2A|retained_intron|CODING|ENST00000514450|1|C),INTRON(MODIFIER||||1620|CC2D2A|protein_coding|CODING|ENST00000503292|1|C),INTRON(MODIFIER||||122|CC2D2A|protein_coding|CODING|ENST00000503658|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 15534868 Proband 29 A G . . Gene=CC2D2A;MT=SNP;MM=CM;CADD=27.1;VMM=43.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K507E|1620|CC2D2A|protein_coding|CODING|ENST00000413206|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K507E|1620|CC2D2A|protein_coding|CODING|ENST00000424120|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K507E|587|CC2D2A|protein_coding|CODING|ENST00000512702|14|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K507E|1620|CC2D2A|protein_coding|CODING|ENST00000503292|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K458E|1512|CC2D2A|protein_coding|CODING|ENST00000389652|12|G),UPSTREAM(MODIFIER||3740||902|CC2D2A|nonsense_mediated_decay|CODING|ENST00000506643||G),EXON(MODIFIER|||||CC2D2A|processed_transcript|CODING|ENST00000513811|14|G),EXON(MODIFIER|||||CC2D2A|retained_intron|CODING|ENST00000510220|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 67786690 Proband 30 G A . . Gene=IQCH;MT=SNP;MM=DN;CADD=28;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E986K|1027|IQCH|protein_coding|CODING|ENST00000335894|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E643K|684|IQCH|protein_coding|CODING|ENST00000546225|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E49K|90|IQCH|protein_coding|CODING|ENST00000558759|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||11||696|IQCH|protein_coding|CODING|ENST00000358767|18|A),UTR_3_PRIME(MODIFIER||150281||60|IQCH|nonsense_mediated_decay|CODING|ENST00000514049|16|A),UTR_3_PRIME(MODIFIER||11||621|IQCH|protein_coding|CODING|ENST00000360277|11|A),INTRON(MODIFIER|||||IQCH-AS1|lincRNA|NON_CODING|ENST00000559298|1|A),INTRON(MODIFIER|||||IQCH-AS1|lincRNA|NON_CODING|ENST00000561232|2|A),INTRON(MODIFIER|||||IQCH-AS1|lincRNA|NON_CODING|ENST00000559285|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 31896409 Proband 30 CA C . . Gene=ZNF267;MT=INDEL;MM=DN;CADD=15.39;VMM=0;EFF=INTRON(MODIFIER||||743|ZNF267|protein_coding|CODING|ENST00000300870|2|C),INTRON(MODIFIER||||77|ZNF267|protein_coding|CODING|ENST00000394846|2|C),INTRON(MODIFIER||||50|ZNF267|nonsense_mediated_decay|CODING|ENST00000566541|3|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||48|ZNF267|nonsense_mediated_decay|CODING|ENST00000561814|3|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||90|ZNF267|protein_coding|CODING|ENST00000562971|2|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 220379361 Proband 30 TA T . . Gene=RAB3GAP2;MT=INDEL;MM=CM;CADD=18.03;VMM=31.74;EFF=UPSTREAM(MODIFIER||1598|||RP11-568G11.4|processed_pseudogene|NON_CODING|ENST00000604232||T),INTRON(MODIFIER||||1393|RAB3GAP2|protein_coding|CODING|ENST00000358951|7|T),INTRON(MODIFIER|||||RAB3GAP2|processed_transcript|CODING|ENST00000478976|2|T),INTRON(MODIFIER|||||RAB3GAP2|retained_intron|CODING|ENST00000237724|4|T),INTRON(MODIFIER||||170|RAB3GAP2|protein_coding|CODING|ENST00000484658|4|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||82|RAB3GAP2|nonsense_mediated_decay|CODING|ENST00000474178|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 220428153 Proband 30 G C . . Gene=RAB3GAP2;MT=SNP;MM=CM;CADD=15.68;VMM=31.74;EFF=NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||1393|RAB3GAP2|protein_coding|CODING||1|C),DOWNSTREAM(MODIFIER||275|||MORF4L1P1|processed_pseudogene|NON_CODING|ENST00000404582||C),INTRON(MODIFIER||||1393|RAB3GAP2|protein_coding|CODING|ENST00000358951|1|C),INTRON(MODIFIER|||||RAB3GAP2|processed_transcript|CODING|ENST00000478976|2|C),INTRON(MODIFIER|||||RAB3GAP2|retained_intron|CODING|ENST00000237724|1|C),INTRON(MODIFIER||||82|RAB3GAP2|nonsense_mediated_decay|CODING|ENST00000474178|1|C),INTRON(MODIFIER|||||RAB3GAP2|processed_transcript|CODING|ENST00000475769|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 71664717 Proband 30 T G . . Gene=COL13A1;MT=SNP;MM=CM;CADD=25;VMM=51.42;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||717|COL13A1|protein_coding|CODING|ENST00000356340|15|G),SPLICE_SITE_DONOR+INTRON(HIGH||||703|COL13A1|protein_coding|CODING|ENST00000398972|16|G),SPLICE_SITE_DONOR+INTRON(HIGH||||691|COL13A1|protein_coding|CODING|ENST00000398973|16|G),SPLICE_SITE_DONOR+INTRON(HIGH||||688|COL13A1|protein_coding|CODING|ENST00000398964|13|G),SPLICE_SITE_DONOR+INTRON(HIGH||||695|COL13A1|protein_coding|CODING|ENST00000398966|14|G),SPLICE_SITE_DONOR+INTRON(HIGH||||698|COL13A1|protein_coding|CODING|ENST00000398968|14|G),SPLICE_SITE_DONOR+INTRON(HIGH||||645|COL13A1|protein_coding|CODING|ENST00000398969|12|G),SPLICE_SITE_DONOR+INTRON(HIGH||||702|COL13A1|protein_coding|CODING|ENST00000398971|15|G),SPLICE_SITE_DONOR+INTRON(HIGH||||705|COL13A1|protein_coding|CODING|ENST00000398974|14|G),SPLICE_SITE_DONOR+INTRON(HIGH||||582|COL13A1|nonsense_mediated_decay|CODING|ENST00000479733|17|G),SPLICE_SITE_DONOR+INTRON(HIGH||||695|COL13A1|protein_coding|CODING|ENST00000354547|15|G),SPLICE_SITE_DONOR+INTRON(HIGH||||683|COL13A1|protein_coding|CODING|ENST00000357811|15|G),SPLICE_SITE_DONOR+INTRON(HIGH||||717|COL13A1|protein_coding|CODING|ENST00000398978|16|G),SPLICE_SITE_DONOR+INTRON(HIGH||||645|COL13A1|protein_coding|CODING|ENST00000520267|12|G),SPLICE_SITE_DONOR+INTRON(HIGH||||668|COL13A1|protein_coding|CODING|ENST00000517713|15|G),SPLICE_SITE_DONOR+INTRON(HIGH||||610|COL13A1|protein_coding|CODING|ENST00000520133|13|G),SPLICE_SITE_DONOR+INTRON(HIGH||||686|COL13A1|protein_coding|CODING|ENST00000522165|15|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 71691030 Proband 30 G A . . Gene=COL13A1;MT=SNP;MM=CM;CADD=17.17;VMM=51.42;EFF=INTRON(MODIFIER||||717|COL13A1|protein_coding|CODING|ENST00000356340|28|A),INTRON(MODIFIER||||703|COL13A1|protein_coding|CODING|ENST00000398972|29|A),INTRON(MODIFIER||||691|COL13A1|protein_coding|CODING|ENST00000398973|29|A),INTRON(MODIFIER||||688|COL13A1|protein_coding|CODING|ENST00000398964|26|A),INTRON(MODIFIER||||695|COL13A1|protein_coding|CODING|ENST00000398966|27|A),INTRON(MODIFIER||||698|COL13A1|protein_coding|CODING|ENST00000398968|27|A),INTRON(MODIFIER||||645|COL13A1|protein_coding|CODING|ENST00000398969|25|A),INTRON(MODIFIER||||702|COL13A1|protein_coding|CODING|ENST00000398971|28|A),INTRON(MODIFIER||||705|COL13A1|protein_coding|CODING|ENST00000398974|27|A),INTRON(MODIFIER||||582|COL13A1|nonsense_mediated_decay|CODING|ENST00000479733|31|A),INTRON(MODIFIER||||695|COL13A1|protein_coding|CODING|ENST00000354547|28|A),INTRON(MODIFIER||||683|COL13A1|protein_coding|CODING|ENST00000357811|28|A),INTRON(MODIFIER||||717|COL13A1|protein_coding|CODING|ENST00000398978|29|A),INTRON(MODIFIER||||645|COL13A1|protein_coding|CODING|ENST00000520267|25|A),INTRON(MODIFIER||||668|COL13A1|protein_coding|CODING|ENST00000517713|28|A),INTRON(MODIFIER||||610|COL13A1|protein_coding|CODING|ENST00000520133|26|A),INTRON(MODIFIER||||686|COL13A1|protein_coding|CODING|ENST00000522165|28|A),INTRON(MODIFIER||||246|COL13A1|protein_coding|CODING|ENST00000398975|4|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||173|COL13A1|protein_coding|CODING|ENST00000456019|1|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 88482779 Proband 30 TA T . . Gene=CEP290;MT=INDEL;MM=CM;CADD=10.96;VMM=36.11;EFF=DOWNSTREAM(MODIFIER||4594||857|CEP290|protein_coding|CODING|ENST00000604024||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||2481|CEP290|protein_coding|CODING|ENST00000309041|31|T),INTRON(MODIFIER||||1539|CEP290|protein_coding|CODING|ENST00000547691|6|T),INTRON(MODIFIER||||2479|CEP290|protein_coding|CODING|ENST00000552810|31|T),INTRON(MODIFIER||||1539|CEP290|protein_coding|CODING|ENST00000397838|23|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 88512304 Proband 30 AT A . . Gene=CEP290;MT=INDEL;MM=CM;CADD=31;VMM=36.11;EFF=FRAME_SHIFT(HIGH||att/|I558|2481|CEP290|protein_coding|CODING|ENST00000309041|17|A),FRAME_SHIFT(HIGH||att/|I556|2479|CEP290|protein_coding|CODING|ENST00000552810|17|A),FRAME_SHIFT(HIGH||att/|I278|857|CEP290|protein_coding|CODING|ENST00000604024|8|A|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||att/|I522|613|CEP290|nonsense_mediated_decay|CODING|ENST00000547926|15|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||15520||1539|CEP290|protein_coding|CODING|ENST00000397838|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 41728205 Proband 30 G A . . Gene=ZC3H7B;MT=SNP;MM=CM;CADD=20.4;VMM=60.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G186S|977|ZC3H7B|protein_coding|CODING|ENST00000351589|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G186S|977|ZC3H7B|protein_coding|CODING|ENST00000352645|7|A),EXON(MODIFIER|||||ZC3H7B|retained_intron|CODING|ENST00000486331|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 41751781 Proband 30 T G . . Gene=ZC3H7B;MT=SNP;MM=CM;CADD=23.7;VMM=60.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V730G|977|ZC3H7B|protein_coding|CODING|ENST00000351589|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V730G|977|ZC3H7B|protein_coding|CODING|ENST00000352645|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 103292201 Proband 30 G A . . Gene=RELN;MT=SNP;MM=CM;CADD=28.4;VMM=53.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S600F|3460|RELN|protein_coding|CODING|ENST00000424685|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S600F|3458|RELN|protein_coding|CODING|ENST00000343529|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S600F|3460|RELN|protein_coding|CODING|ENST00000428762|15|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 103574901 Proband 30 T C . . Gene=RELN;MT=SNP;MM=CM;CADD=15.89;VMM=53.82;EFF=INTRON(MODIFIER||||3460|RELN|protein_coding|CODING|ENST00000424685|1|C),INTRON(MODIFIER||||3458|RELN|protein_coding|CODING|ENST00000343529|1|C),INTRON(MODIFIER||||3460|RELN|protein_coding|CODING|ENST00000428762|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 9862869 Proband 31 G T . . Gene=GRIN2A;MT=SNP;MM=DN;CADD=25.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L812M|1464|GRIN2A|protein_coding|CODING|ENST00000330684|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L812M|1464|GRIN2A|protein_coding|CODING|ENST00000396573|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L812M|1281|GRIN2A|protein_coding|CODING|ENST00000562109|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L655M|1124|GRIN2A|protein_coding|CODING|ENST00000535259|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L812M|1281|GRIN2A|protein_coding|CODING|ENST00000404927|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L812M|1464|GRIN2A|protein_coding|CODING|ENST00000396575|11|T),EXON(MODIFIER|||||GRIN2A|processed_transcript|CODING|ENST00000463531|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 57472237 Proband 31 C CT . . Gene=PRIM2;MT=INDEL;MM=DN;CADD=19.72;VMM=0;EFF=INTRON(MODIFIER||||346|PRIM2|protein_coding|CODING|ENST00000607273|11|CT),INTRON(MODIFIER|||||PRIM2|processed_transcript|CODING|ENST00000389488|11|CT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 47272763 Proband 31 C T . . Gene=ZNF157;MT=SNP;MM=XL;CADD=36;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q431*|506|ZNF157|protein_coding|CODING|ENST00000377073|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 70472720 Proband 31 C T . . Gene=ZMYM3;MT=SNP;MM=XL;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|1372|ZMYM3|protein_coding|CODING|ENST00000373988|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|1370|ZMYM3|protein_coding|CODING|ENST00000314425|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|1370|ZMYM3|protein_coding|CODING|ENST00000353904|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|1358|ZMYM3|protein_coding|CODING|ENST00000373998|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|1280|ZMYM3|protein_coding|CODING|ENST00000373984|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|497|ZMYM3|protein_coding|CODING|ENST00000373982|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|495|ZMYM3|protein_coding|CODING|ENST00000373981|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G129E|349|ZMYM3|protein_coding|CODING|ENST00000373978|2|T),EXON(MODIFIER|||||ZMYM3|processed_transcript|CODING|ENST00000489332|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 148048494 Proband 31 A C . . Gene=AFF2;MT=SNP;MM=XL;CADD=24;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I1030L|1311|AFF2|protein_coding|CODING|ENST00000370460|14|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I995L|1276|AFF2|protein_coding|CODING|ENST00000370457|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I997L|1278|AFF2|protein_coding|CODING|ENST00000342251|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|I671L|952|AFF2|protein_coding|CODING|ENST00000286437|11|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 97328755 Proband 31 C T . . Gene=NEDD1;MT=SNP;MM=CM;CADD=26.1;VMM=31.6;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S171F|667|NEDD1|protein_coding|CODING|ENST00000557644|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S164F|660|NEDD1|protein_coding|CODING|ENST00000266742|7|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S164F|660|NEDD1|protein_coding|CODING|ENST00000429527|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S164F|163|NEDD1|protein_coding|CODING|ENST00000557478|6|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S75F|571|NEDD1|protein_coding|CODING|ENST00000411739|5|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S75F|159|NEDD1|protein_coding|CODING|ENST00000553609|5|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCt/tTt|S75F|571|NEDD1|protein_coding|CODING|ENST00000457368|4|T),SPLICE_SITE_REGION+EXON(LOW|||||NEDD1|processed_transcript|CODING|ENST00000555114|4|T),SPLICE_SITE_REGION+EXON(LOW|||||NEDD1|processed_transcript|CODING|ENST00000557454|3|T),INTRON(MODIFIER||||81|NEDD1|nonsense_mediated_decay|CODING|ENST00000555806|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 97338420 Proband 31 G A . . Gene=NEDD1;MT=SNP;MM=CM;CADD=11.3;VMM=31.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A508T|667|NEDD1|protein_coding|CODING|ENST00000557644|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A501T|660|NEDD1|protein_coding|CODING|ENST00000266742|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A501T|660|NEDD1|protein_coding|CODING|ENST00000429527|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A412T|571|NEDD1|protein_coding|CODING|ENST00000411739|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A412T|571|NEDD1|protein_coding|CODING|ENST00000457368|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50333155 Proband 31 T C . . Gene=MED25;MT=SNP;MM=CM;CADD=23.5;VMM=31.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V213A|747|MED25|protein_coding|CODING|ENST00000312865|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V213A|252|MED25|protein_coding|CODING|ENST00000595185|6|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||945|||MED25|retained_intron|CODING|ENST00000599722||C),UPSTREAM(MODIFIER||2986|||MED25|retained_intron|CODING|ENST00000594998||C),INTRON(MODIFIER||||534|MED25|protein_coding|CODING|ENST00000538643|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50340329 Proband 31 CCTGGGGCCCTGGGTGAATGACG C . . Gene=MED25;MT=INDEL;MM=CM;CADD=12.36;VMM=31.75;EFF=DOWNSTREAM(MODIFIER||94||747|MED25|protein_coding|CODING|ENST00000312865||C),DOWNSTREAM(MODIFIER||2154|||PTOV1-AS1|antisense|NON_CODING|ENST00000600742||C),DOWNSTREAM(MODIFIER||111||534|MED25|protein_coding|CODING|ENST00000538643||C),DOWNSTREAM(MODIFIER||111||252|MED25|protein_coding|CODING|ENST00000595185||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4658|||MED25|retained_intron|CODING|ENST00000599722||C),DOWNSTREAM(MODIFIER||94|||MED25|retained_intron|CODING|ENST00000594998||C),DOWNSTREAM(MODIFIER||1566|||PTOV1-AS1|antisense|NON_CODING|ENST00000596521||C),INTRON(MODIFIER||||247|MED25|protein_coding|CODING|ENST00000593767|4|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 33652626 Proband 31 G A . . Gene=ITPR3;MT=SNP;MM=CM;CADD=23.3;VMM=33.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C1738Y|2671|ITPR3|protein_coding|CODING|ENST00000374316|40|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tAc|C1738Y|2671|ITPR3|protein_coding|CODING|ENST00000605930|39|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 33653971 Proband 31 G A . . Gene=ITPR3;MT=SNP;MM=CM;CADD=12.97;VMM=33.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1937I|2671|ITPR3|protein_coding|CODING|ENST00000374316|43|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1937I|2671|ITPR3|protein_coding|CODING|ENST00000605930|42|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 72991084 Proband 32 T C . . Gene=CHIC1(dist=84147),TSIX(dist=20956);MT=SNP;MM=XL;CADD=16;VMM=0;EFF=DOWNSTREAM(MODIFIER||826|||SEPHS1P4|processed_pseudogene|NON_CODING|ENST00000446112||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 135441614 Proband 32 G A . . Gene=GPR112;MT=SNP;MM=XL;CADD=29.3;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gag/Aag|E2382K|3080|GPR112|protein_coding|CODING|ENST00000370652|9|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gag/Aag|E2382K|3080|GPR112|protein_coding|CODING|ENST00000394143|11|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gag/Aag|E2177K|2875|GPR112|protein_coding|CODING|ENST00000412101|8|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gag/Aag|E2177K|2875|GPR112|protein_coding|CODING|ENST00000394141|8|A),INTRON(MODIFIER||||2804|GPR112|protein_coding|CODING|ENST00000287534|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 76696764 Proband 32 C T . . Gene=ACER3;MT=SNP;MM=CM;CADD=29;VMM=90.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T133I|267|ACER3|protein_coding|CODING|ENST00000532485|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T91I|204|ACER3|protein_coding|CODING|ENST00000534206|5|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T38I|172|ACER3|protein_coding|CODING|ENST00000526597|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T96I|230|ACER3|protein_coding|CODING|ENST00000533873|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T91I|225|ACER3|protein_coding|CODING|ENST00000538157|6|T),UTR_3_PRIME(MODIFIER||59148||51|ACER3|nonsense_mediated_decay|CODING|ENST00000525194|6|T),UTR_3_PRIME(MODIFIER||28227||80|ACER3|nonsense_mediated_decay|CODING|ENST00000525861|6|T),UTR_3_PRIME(MODIFIER||9421||74|ACER3|nonsense_mediated_decay|CODING|ENST00000531461|4|T),UTR_3_PRIME(MODIFIER||117488||71|ACER3|nonsense_mediated_decay|CODING|ENST00000530334|6|T),UTR_3_PRIME(MODIFIER||59148||51|ACER3|nonsense_mediated_decay|CODING|ENST00000531352|6|T),UTR_3_PRIME(MODIFIER||26627||76|ACER3|nonsense_mediated_decay|CODING|ENST00000278544|5|T),EXON(MODIFIER|||||ACER3|processed_transcript|CODING|ENST00000530182|5|T),EXON(MODIFIER|||||ACER3|processed_transcript|CODING|ENST00000527508|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 76727718 Proband 32 G C . . Gene=ACER3;MT=SNP;MM=CM;CADD=22.9;VMM=90.18;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||267|ACER3|protein_coding|CODING|ENST00000532485|8|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||204|ACER3|protein_coding|CODING|ENST00000534206|8|C|WARNING_TRANSCRIPT_NO_STOP_CODON),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||51|ACER3|nonsense_mediated_decay|CODING|ENST00000525194|10|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||80|ACER3|nonsense_mediated_decay|CODING|ENST00000525861|10|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||74|ACER3|nonsense_mediated_decay|CODING|ENST00000531461|7|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||172|ACER3|protein_coding|CODING|ENST00000526597|8|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||230|ACER3|protein_coding|CODING|ENST00000533873|7|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||225|ACER3|protein_coding|CODING|ENST00000538157|9|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||51|ACER3|nonsense_mediated_decay|CODING|ENST00000531352|9|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||76|ACER3|nonsense_mediated_decay|CODING|ENST00000278544|8|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||134|ACER3|protein_coding|CODING|ENST00000544113|3|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||ACER3|retained_intron|CODING|ENST00000525325|2|C),UPSTREAM(MODIFIER||2863|||ACER3|retained_intron|CODING|ENST00000530921||C),DOWNSTREAM(MODIFIER||1413||71|ACER3|nonsense_mediated_decay|CODING|ENST00000530334||C),DOWNSTREAM(MODIFIER||1568|||ACER3|processed_transcript|CODING|ENST00000527508||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 2249384 Proband 32 C T . . Gene=AMH;MT=SNP;MM=CM;CADD=21.4;VMM=36.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A18V|560|AMH|protein_coding|CODING|ENST00000221496|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A18V|169|AMH|protein_coding|CODING|ENST00000592877|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1254|||MIR4321|miRNA|NON_CODING|ENST00000592276||T),UPSTREAM(MODIFIER||67|||AMH|retained_intron|CODING|ENST00000609455||T),UPSTREAM(MODIFIER||359|||AMH|retained_intron|CODING|ENST00000589313||T),DOWNSTREAM(MODIFIER||706||464|SF3A2|protein_coding|CODING|ENST00000221494||T),DOWNSTREAM(MODIFIER||2867||331|JSRP1|protein_coding|CODING|ENST00000300961||T),DOWNSTREAM(MODIFIER||3547|||SF3A2|retained_intron|CODING|ENST00000592839||T),DOWNSTREAM(MODIFIER||1507|||SF3A2|retained_intron|CODING|ENST00000592314||T),DOWNSTREAM(MODIFIER||2583||134|SF3A2|protein_coding|CODING|ENST00000586396||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3830|||SF3A2|retained_intron|CODING|ENST00000591121||T),DOWNSTREAM(MODIFIER||4432|||SF3A2|retained_intron|CODING|ENST00000590034||T),DOWNSTREAM(MODIFIER||4199|||SF3A2|retained_intron|CODING|ENST00000589118||T),DOWNSTREAM(MODIFIER||2179|||SF3A2|retained_intron|CODING|ENST00000587637||T),DOWNSTREAM(MODIFIER||2868||331|JSRP1|protein_coding|CODING|ENST00000586471||T),DOWNSTREAM(MODIFIER||4284||260|JSRP1|protein_coding|CODING|ENST00000593238||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 2250351 Proband 32 C T . . Gene=AMH;MT=SNP;MM=CM;CADD=15.14;VMM=36.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T143I|560|AMH|protein_coding|CODING|ENST00000221496|2|T),UPSTREAM(MODIFIER||287|||MIR4321|miRNA|NON_CODING|ENST00000592276||T),DOWNSTREAM(MODIFIER||1673||464|SF3A2|protein_coding|CODING|ENST00000221494||T),DOWNSTREAM(MODIFIER||1900||331|JSRP1|protein_coding|CODING|ENST00000300961||T),DOWNSTREAM(MODIFIER||4514|||SF3A2|retained_intron|CODING|ENST00000592839||T),DOWNSTREAM(MODIFIER||2474|||SF3A2|retained_intron|CODING|ENST00000592314||T),DOWNSTREAM(MODIFIER||3550||134|SF3A2|protein_coding|CODING|ENST00000586396||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4797|||SF3A2|retained_intron|CODING|ENST00000591121||T),DOWNSTREAM(MODIFIER||3146|||SF3A2|retained_intron|CODING|ENST00000587637||T),DOWNSTREAM(MODIFIER||1901||331|JSRP1|protein_coding|CODING|ENST00000586471||T),DOWNSTREAM(MODIFIER||3317||260|JSRP1|protein_coding|CODING|ENST00000593238||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||169|AMH|protein_coding|CODING|ENST00000592877|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||AMH|retained_intron|CODING|ENST00000609455|2|T),EXON(MODIFIER|||||AMH|retained_intron|CODING|ENST00000589313|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 11319632 Proband 32 C T . . Gene=DOCK6;MT=SNP;MM=CM;CADD=9.017;VMM=31.3;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L1633|2047|DOCK6|protein_coding|CODING|ENST00000294618|38|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L972|1386|DOCK6|protein_coding|CODING|ENST00000319867|24|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L921|1335|DOCK6|protein_coding|CODING|ENST00000587656|20|T),UPSTREAM(MODIFIER||12||146|DOCK6|protein_coding|CODING|ENST00000588666||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||198|||DOCK6|processed_transcript|CODING|ENST00000592463||T),INTRON(MODIFIER|||||CTC-510F12.2|antisense|NON_CODING|ENST00000588634|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 11323874 Proband 32 C T . . Gene=DOCK6;MT=SNP;MM=CM;CADD=35;VMM=31.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1490Q|2047|DOCK6|protein_coding|CODING|ENST00000294618|35|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R829Q|1386|DOCK6|protein_coding|CODING|ENST00000319867|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R778Q|1335|DOCK6|protein_coding|CODING|ENST00000587656|17|T),UPSTREAM(MODIFIER||4254||146|DOCK6|protein_coding|CODING|ENST00000588666||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4440|||DOCK6|processed_transcript|CODING|ENST00000592463||T),DOWNSTREAM(MODIFIER||2413|||DOCK6|retained_intron|CODING|ENST00000588429||T),DOWNSTREAM(MODIFIER||3478|||DOCK6|retained_intron|CODING|ENST00000592403||T),INTRON(MODIFIER|||||CTC-510F12.2|antisense|NON_CODING|ENST00000588634|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17135270 Proband 32 T TG . . Gene=CNTLN;MT=INDEL;MM=CM;CADD=22.4;VMM=42.34;EFF=FRAME_SHIFT(HIGH||ggg/Gggg|G70G?|1406|CNTLN|protein_coding|CODING|ENST00000380647|1|TG),FRAME_SHIFT(HIGH||ggg/Gggg|G70G?|1405|CNTLN|protein_coding|CODING|ENST00000262360|1|TG),FRAME_SHIFT(HIGH||ggg/Gggg|G70G?|1406|CNTLN|protein_coding|CODING|ENST00000425824|1|TG),FRAME_SHIFT(HIGH||ggg/Gggg|G70G?|391|CNTLN|protein_coding|CODING|ENST00000380641|1|TG),EXON(MODIFIER|||||CNTLN|processed_transcript|CODING|ENST00000484374|1|TG) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17463037 Proband 32 T C . . Gene=CNTLN;MT=SNP;MM=CM;CADD=16.27;VMM=42.34;EFF=DOWNSTREAM(MODIFIER||55|||CNTLN|processed_transcript|CODING|ENST00000461247||C),INTRON(MODIFIER||||1406|CNTLN|protein_coding|CODING|ENST00000380647|20|C),INTRON(MODIFIER||||1405|CNTLN|protein_coding|CODING|ENST00000262360|20|C),INTRON(MODIFIER||||1406|CNTLN|protein_coding|CODING|ENST00000425824|20|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 17169647 Proband 33 C T . . Gene=REPS2;MT=SNP;MM=XL;CADD=15.11;VMM=0;EFF=UTR_3_PRIME(MODIFIER||4043||660|REPS2|protein_coding|CODING|ENST00000357277|18|T),UTR_3_PRIME(MODIFIER||4043||659|REPS2|protein_coding|CODING|ENST00000303843|18|T),DOWNSTREAM(MODIFIER||3902||459|REPS2|protein_coding|CODING|ENST00000380064||T),DOWNSTREAM(MODIFIER||3895|||REPS2|processed_transcript|CODING|ENST00000469714||T),DOWNSTREAM(MODIFIER||3896|||REPS2|retained_intron|CODING|ENST00000470686||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 119392812 Proband 33 TAAA T . . Gene=TMEM255A;MT=INDEL;MM=XL;CADD=16.61;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1910||349|TMEM255A|protein_coding|CODING|ENST00000309720|10|T),UTR_3_PRIME(MODIFIER||1910||325|TMEM255A|protein_coding|CODING|ENST00000371369|9|T),UTR_3_PRIME(MODIFIER||1910||185|TMEM255A|protein_coding|CODING|ENST00000371352|5|T),UTR_3_PRIME(MODIFIER||1910||241|TMEM255A|protein_coding|CODING|ENST00000440464|7|T),DOWNSTREAM(MODIFIER||560||672|ZBTB33|protein_coding|CODING|ENST00000326624||T),DOWNSTREAM(MODIFIER||3524||672|ZBTB33|protein_coding|CODING|ENST00000557385||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 183207493 Proband 33 G A . . Gene=LAMC2;MT=SNP;MM=CM;CADD=23.8;VMM=31.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E936K|1193|LAMC2|protein_coding|CODING|ENST00000264144|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E936K|1111|LAMC2|protein_coding|CODING|ENST00000493293|19|A),UPSTREAM(MODIFIER||1143|||LAMC2|processed_transcript|CODING|ENST00000461729||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 183212668 Proband 33 C A . . Gene=LAMC2;MT=SNP;MM=CM;CADD=12.14;VMM=31.47;EFF=UTR_3_PRIME(MODIFIER||133||1193|LAMC2|protein_coding|CODING|ENST00000264144|23|A),DOWNSTREAM(MODIFIER||4704||307|NMNAT2|protein_coding|CODING|ENST00000287713||A),DOWNSTREAM(MODIFIER||2272||1111|LAMC2|protein_coding|CODING|ENST00000493293||A),DOWNSTREAM(MODIFIER||3154|||LAMC2|processed_transcript|CODING|ENST00000461729||A),DOWNSTREAM(MODIFIER||4704||302|NMNAT2|protein_coding|CODING|ENST00000294868||A),INTRON(MODIFIER|||||LAMC2|processed_transcript|CODING|ENST00000476255|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 39909726 Proband 33 G A . . Gene=SMCR7L;MT=SNP;MM=CM;CADD=22.2;VMM=58.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D264N|478|MIEF1|protein_coding|CODING|ENST00000402881|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D264N|463|MIEF1|protein_coding|CODING|ENST00000325301|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D264N|463|MIEF1|protein_coding|CODING|ENST00000404569|7|A),UTR_3_PRIME(MODIFIER||1279||148|MIEF1|nonsense_mediated_decay|CODING|ENST00000433117|6|A),UTR_3_PRIME(MODIFIER||1279||148|MIEF1|nonsense_mediated_decay|CODING|ENST00000428069|7|A),DOWNSTREAM(MODIFIER||2299||41|MIEF1|protein_coding|CODING|ENST00000434364||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 39911832 Proband 33 C T . . Gene=SMCR7L;MT=SNP;MM=CM;CADD=21.2;VMM=58.26;EFF=UTR_3_PRIME(MODIFIER||3385||148|MIEF1|nonsense_mediated_decay|CODING|ENST00000433117|6|T),UTR_3_PRIME(MODIFIER||1504||463|MIEF1|protein_coding|CODING|ENST00000325301|6|T),UTR_3_PRIME(MODIFIER||1504||463|MIEF1|protein_coding|CODING|ENST00000404569|7|T),UPSTREAM(MODIFIER||4737||351|ATF4|protein_coding|CODING|ENST00000337304||T),UPSTREAM(MODIFIER||3868||351|ATF4|protein_coding|CODING|ENST00000404241||T),UPSTREAM(MODIFIER||4737||351|ATF4|protein_coding|CODING|ENST00000396680||T),DOWNSTREAM(MODIFIER||119||478|MIEF1|protein_coding|CODING|ENST00000402881||T),DOWNSTREAM(MODIFIER||4405||41|MIEF1|protein_coding|CODING|ENST00000434364||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1961||148|MIEF1|nonsense_mediated_decay|CODING|ENST00000428069||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 117098418 Proband 33 ATTTT A . . Gene=AKNA;MT=INDEL;MM=CM;CADD=10.95;VMM=40.74;EFF=UTR_3_PRIME(MODIFIER||912||1439|AKNA|protein_coding|CODING|ENST00000307564|22|A),UTR_3_PRIME(MODIFIER||912||384|AKNA|protein_coding|CODING|ENST00000374079|8|A),UTR_3_PRIME(MODIFIER||912||1439|AKNA|protein_coding|CODING|ENST00000374088|22|A),DOWNSTREAM(MODIFIER||2887||201|ORM2|protein_coding|CODING|ENST00000431067||A),DOWNSTREAM(MODIFIER||4218||194|ORM2|protein_coding|CODING|ENST00000412657||A),DOWNSTREAM(MODIFIER||26||899|AKNA|protein_coding|CODING|ENST00000223791||A),DOWNSTREAM(MODIFIER||26||1358|AKNA|protein_coding|CODING|ENST00000374075||A),EXON(MODIFIER|||||AKNA|processed_transcript|CODING|ENST00000492875|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 117122231 Proband 33 G A . . Gene=AKNA;MT=SNP;MM=CM;CADD=35;VMM=40.74;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R746*|1439|AKNA|protein_coding|CODING|ENST00000307564|10|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R746*|1439|AKNA|protein_coding|CODING|ENST00000374088|10|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R206*|899|AKNA|protein_coding|CODING|ENST00000223791|9|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R665*|1358|AKNA|protein_coding|CODING|ENST00000374075|8|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R746*|831|AKNA|protein_coding|CODING|ENST00000312033|10|A),UPSTREAM(MODIFIER||1614|||AKNA|processed_transcript|CODING|ENST00000490767||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 71139826 Proband 34 G A . . Gene=HK1;MT=SNP;MM=DN;CADD=34;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||917|HK1|protein_coding|CODING||9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G449R|952|HK1|protein_coding|CODING|ENST00000448642|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G402R|905|HK1|protein_coding|CODING|ENST00000360289|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G418R|921|HK1|protein_coding|CODING|ENST00000404387|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G413R|916|HK1|protein_coding|CODING|ENST00000298649|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G414R|917|HK1|protein_coding|CODING|ENST00000359426|9|A),DOWNSTREAM(MODIFIER||3100|||HK1|processed_transcript|CODING|ENST00000493591||A),EXON(MODIFIER|||||HK1|processed_transcript|CODING|ENST00000494253|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 65266812 Proband 34 CA C . . Gene=SPG21;MT=INDEL;MM=DN;CADD=18.91;VMM=0;EFF=DOWNSTREAM(MODIFIER||127||149|SPG21|protein_coding|CODING|ENST00000558765||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||155||140|SPG21|protein_coding|CODING|ENST00000557795||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||191|||SPG21|processed_transcript|CODING|ENST00000560564||C),DOWNSTREAM(MODIFIER||1998||101|SPG21|protein_coding|CODING|ENST00000559677||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||308|SPG21|protein_coding|CODING|ENST00000204566|5|C),INTRON(MODIFIER||||154|SPG21|protein_coding|CODING|ENST00000559199|3|C),INTRON(MODIFIER||||308|SPG21|protein_coding|CODING|ENST00000433215|5|C),INTRON(MODIFIER||||129|SPG21|nonsense_mediated_decay|CODING|ENST00000561078|4|C),INTRON(MODIFIER||||281|SPG21|protein_coding|CODING|ENST00000416889|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 160494470 Proband 34 C A . . Gene=IGF2R;MT=SNP;MM=DN;CADD=24.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S1639Y|2491|IGF2R|protein_coding|CODING|ENST00000356956|34|A),EXON(MODIFIER|||||IGF2R|retained_intron|CODING|ENST00000487607|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 13754648 Proband 34 G A . . Gene=OFD1;MT=SNP;MM=XL;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G55R|1012|OFD1|protein_coding|CODING|ENST00000340096|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G55R|972|OFD1|protein_coding|CODING|ENST00000380550|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G55R|367|OFD1|protein_coding|CODING|ENST00000398395|3|A),UTR_5_PRIME(MODIFIER||7894||872|OFD1|protein_coding|CODING|ENST00000380567|3|A),UPSTREAM(MODIFIER||1954||174|TRAPPC2|protein_coding|CODING|ENST00000458511||A),UPSTREAM(MODIFIER||1894||140|TRAPPC2|protein_coding|CODING|ENST00000359680||A),UPSTREAM(MODIFIER||1894||147|TRAPPC2|protein_coding|CODING|ENST00000453655||A),UPSTREAM(MODIFIER||1973||140|TRAPPC2|protein_coding|CODING|ENST00000380579||A),UPSTREAM(MODIFIER||1931||140|TRAPPC2|protein_coding|CODING|ENST00000358231||A),UPSTREAM(MODIFIER||1984|||TRAPPC2|retained_intron|CODING|ENST00000519382||A),UPSTREAM(MODIFIER||1954||113|TRAPPC2|protein_coding|CODING|ENST00000519885||A),UPSTREAM(MODIFIER||1896||73|TRAPPC2|protein_coding|CODING|ENST00000518847||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2165|||OFD1|processed_transcript|CODING|ENST00000466534||A),EXON(MODIFIER|||||OFD1|processed_transcript|CODING|ENST00000485052|4|A),EXON(MODIFIER|||||OFD1|processed_transcript|CODING|ENST00000490265|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 31144910 Proband 34 T G . . Gene=DMD;MT=SNP;MM=XL;CADD=15.23;VMM=0;EFF=INTRON(MODIFIER||||3685|DMD|protein_coding|CODING|ENST00000357033|77|G),INTRON(MODIFIER|||||DMD|processed_transcript|CODING|ENST00000481143|1|G),INTRON(MODIFIER||||635|DMD|protein_coding|CODING|ENST00000378723|16|G),INTRON(MODIFIER||||1386|DMD|protein_coding|CODING|ENST00000358062|29|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1133|DMD|protein_coding|CODING|ENST00000343523|30|G),INTRON(MODIFIER||||1230|DMD|protein_coding|CODING|ENST00000359836|33|G),INTRON(MODIFIER||||1225|DMD|protein_coding|CODING|ENST00000378707|34|G),INTRON(MODIFIER||||1115|DMD|protein_coding|CODING|ENST00000541735|30|G),INTRON(MODIFIER||||3681|DMD|protein_coding|CODING|ENST00000378677|77|G),INTRON(MODIFIER||||617|DMD|protein_coding|CODING|ENST00000378702|16|G),INTRON(MODIFIER||||1243|DMD|protein_coding|CODING|ENST00000474231|34|G),INTRON(MODIFIER||||622|DMD|protein_coding|CODING|ENST00000361471|15|G),INTRON(MODIFIER||||525|DMD|protein_coding|CODING|ENST00000378680|12|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 48543720 Proband 34 C T . . Gene=WAS;MT=SNP;MM=XL;CADD=15.18;VMM=0;EFF=UPSTREAM(MODIFIER||448|||WAS|processed_transcript|CODING|ENST00000490627||T),UPSTREAM(MODIFIER||2948|||WAS|processed_transcript|CODING|ENST00000474174||T),UPSTREAM(MODIFIER||3689|||WAS|processed_transcript|CODING|ENST00000470107||T),INTRON(MODIFIER||||502|WAS|protein_coding|CODING|ENST00000376701|2|T),INTRON(MODIFIER||||215|WAS|protein_coding|CODING|ENST00000450772|4|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||WAS|processed_transcript|CODING|ENST00000465982|2|T),INTRON(MODIFIER|||||WAS|processed_transcript|CODING|ENST00000483750|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 215847916 Proband 34 T G . . Gene=USH2A;MT=SNP;MM=CM;CADD=16.82;VMM=35.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N4446T|5226|USH2A|protein_coding|CODING|ENST00000366943|63|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N4446T|5202|USH2A|protein_coding|CODING|ENST00000307340|63|G),NEXT_PROT[domain:Fibronectin_type-III_30](LOW||||5202|USH2A|protein_coding|CODING||63|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216062306 Proband 34 A G . . Gene=USH2A;MT=SNP;MM=CM;CADD=18.57;VMM=35.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V2562A|5226|USH2A|protein_coding|CODING|ENST00000366943|41|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V2562A|5202|USH2A|protein_coding|CODING|ENST00000307340|41|G),INTRON(MODIFIER|||||RP5-1111A8.3|antisense|NON_CODING|ENST00000414995|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 78364999 Proband 34 A G . . Gene=TENM4;MT=SNP;MM=CM;CADD=13.72;VMM=38.13;EFF=UTR_3_PRIME(MODIFIER||4104||2769|TENM4|protein_coding|CODING|ENST00000278550|34|G),DOWNSTREAM(MODIFIER||3853||951|TENM4|protein_coding|CODING|ENST00000530738||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 78440483 Proband 34 T C . . Gene=TENM4;MT=SNP;MM=CM;CADD=24.7;VMM=38.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1115C|2769|TENM4|protein_coding|CODING|ENST00000278550|22|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 26534087 Proband 34 G A . . Gene=GPR113;MT=SNP;MM=CM;CADD=35;VMM=62.96;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R837*|1079|GPR113|protein_coding|CODING|ENST00000311519|11|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R440*|675|GPR113|protein_coding|CODING|ENST00000541401|5|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R638*|873|GPR113|protein_coding|CODING|ENST00000333478|8|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R638*|873|GPR113|nonsense_mediated_decay|CODING|ENST00000447444|8|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R768*|997|GPR113|protein_coding|CODING|ENST00000421160|10|A),UTR_3_PRIME(MODIFIER||2250||120|GPR113|nonsense_mediated_decay|CODING|ENST00000435303|5|A),INTRON(MODIFIER||||117|EPT1|protein_coding|CODING|ENST00000442141|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||GPR113|processed_transcript|CODING|ENST00000459892|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 26569002 Proband 34 C T . . Gene=GPR113;MT=SNP;MM=CM;CADD=14.99;VMM=62.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G34E|120|GPR113|nonsense_mediated_decay|CODING|ENST00000435303|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G34E|873|GPR113|protein_coding|CODING|ENST00000333478|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G34E|873|GPR113|nonsense_mediated_decay|CODING|ENST00000447444|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G34E|86|GPR113|protein_coding|CODING|ENST00000433584|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||99||397|EPT1|protein_coding|CODING|ENST00000260585|1|T),UTR_5_PRIME(MODIFIER||32290||675|GPR113|protein_coding|CODING|ENST00000541401|1|T),UPSTREAM(MODIFIER||332|||GPR113|processed_transcript|CODING|ENST00000459892||T),UPSTREAM(MODIFIER||320|||GPR113|processed_transcript|CODING|ENST00000481960||T),UPSTREAM(MODIFIER||15||179|EPT1|protein_coding|CODING|ENST00000447170||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||44|||EPT1|processed_transcript|CODING|ENST00000462301||T),INTRON(MODIFIER||||117|EPT1|protein_coding|CODING|ENST00000442141|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||GPR113|processed_transcript|CODING|ENST00000487878|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 65294330 Proband 35 C T . . Gene=SCYL1;MT=SNP;MM=DN;CADD=27.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|808|SCYL1|protein_coding|CODING|ENST00000270176|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|780|SCYL1|protein_coding|CODING|ENST00000525364|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|791|SCYL1|protein_coding|CODING|ENST00000420247|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|787|SCYL1|protein_coding|CODING|ENST00000533862|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|781|SCYL1|protein_coding|CODING|ENST00000279270|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R227C|775|SCYL1|protein_coding|CODING|ENST00000524944|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R84C|665|SCYL1|protein_coding|CODING|ENST00000527009|4|T),UPSTREAM(MODIFIER||3908|||SCYL1|retained_intron|CODING|ENST00000529178||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 153529681 Proband 35 G A . . Gene=PRPF40A;MT=SNP;MM=HR;CADD=17.89;VMM=0;EFF=DOWNSTREAM(MODIFIER||3232||346|PRPF40A|protein_coding|CODING|ENST00000493468||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||930|PRPF40A|protein_coding|CODING|ENST00000410080|11|A),INTRON(MODIFIER||||108|PRPF40A|nonsense_mediated_decay|CODING|ENST00000354363|12|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||447|PRPF40A|protein_coding|CODING|ENST00000545856|11|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 124456436 Proband 35 G T . . Gene=UMPS;MT=SNP;MM=DN;CADD=26.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G111V|480|UMPS|protein_coding|CODING|ENST00000232607|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G111V|342|UMPS|nonsense_mediated_decay|CODING|ENST00000479719|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G19V|388|UMPS|protein_coding|CODING|ENST00000536109|4|T),UTR_5_PRIME(MODIFIER||203||205|UMPS|protein_coding|CODING|ENST00000413078|2|T),UTR_5_PRIME(MODIFIER||203||302|UMPS|protein_coding|CODING|ENST00000538242|2|T),UTR_3_PRIME(MODIFIER||4||57|UMPS|nonsense_mediated_decay|CODING|ENST00000462091|2|T),UTR_3_PRIME(MODIFIER||6039||66|UMPS|nonsense_mediated_decay|CODING|ENST00000467167|4|T),UTR_3_PRIME(MODIFIER||6039||66|UMPS|nonsense_mediated_decay|CODING|ENST00000460034|3|T),UTR_3_PRIME(MODIFIER||4||57|UMPS|nonsense_mediated_decay|CODING|ENST00000497791|2|T),UPSTREAM(MODIFIER||3835|||RP11-71H17.1|processed_pseudogene|NON_CODING|ENST00000475510||T),UPSTREAM(MODIFIER||542|||UMPS|retained_intron|CODING|ENST00000487622||T),UPSTREAM(MODIFIER||1036|||UMPS|processed_transcript|CODING|ENST00000495751||T),INTRON(MODIFIER||||142|UMPS|nonsense_mediated_decay|CODING|ENST00000474588|2|T),EXON(MODIFIER|||||UMPS|processed_transcript|CODING|ENST00000498715|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 41208605 Proband 35 TCTTA T . . Gene=DDX3X;MT=INDEL;MM=XL;CADD=15.49;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1634||662|DDX3X|protein_coding|CODING|ENST00000399959|17|T),UPSTREAM(MODIFIER||3477|||RN7SL15P|misc_RNA|NON_CODING|ENST00000582825||T),DOWNSTREAM(MODIFIER||1317||646|DDX3X|protein_coding|CODING|ENST00000457138||T),DOWNSTREAM(MODIFIER||1094||139|DDX3X|protein_coding|CODING|ENST00000441189||T),DOWNSTREAM(MODIFIER||2802||308|DDX3X|protein_coding|CODING|ENST00000542215||T),INTRON(MODIFIER|||||DDX3X|processed_transcript|CODING|ENST00000478993|17|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 136650921 Proband 35 G A . . Gene=ZIC3;MT=SNP;MM=XL;CADD=21.2;VMM=0;EFF=UPSTREAM(MODIFIER||4375|||RP1-137H15.2|antisense|NON_CODING|ENST00000442841||A),UPSTREAM(MODIFIER||4837|||RP1-137H15.2|antisense|NON_CODING|ENST00000456631||A),UPSTREAM(MODIFIER||43|||ZIC3|processed_transcript|CODING|ENST00000478471||A),INTRON(MODIFIER||||467|ZIC3|protein_coding|CODING|ENST00000287538|1|A),INTRON(MODIFIER||||457|ZIC3|protein_coding|CODING|ENST00000370606|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153581714 Proband 35 G A . . Gene=FLNA;MT=SNP;MM=XL;CADD=25.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1991L|2647|FLNA|protein_coding|CODING|ENST00000369850|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1983L|2639|FLNA|protein_coding|CODING|ENST00000360319|35|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1983L|2639|FLNA|protein_coding|CODING|ENST00000422373|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S124L|780|FLNA|protein_coding|CODING|ENST00000369856|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1951L|2607|FLNA|protein_coding|CODING|ENST00000344736|34|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S52L|89|FLNA|nonsense_mediated_decay|CODING|ENST00000415241|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S215L|230|FLNA|protein_coding|CODING|ENST00000438732|6|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||11343||604|FLNA|nonsense_mediated_decay|CODING|ENST00000420627|36|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||463|||FLNA|processed_transcript|CODING|ENST00000498411||A),UPSTREAM(MODIFIER||2143|||FLNA|processed_transcript|CODING|ENST00000498491||A),UPSTREAM(MODIFIER||2991|||FLNA|retained_intron|CODING|ENST00000462590||A),UPSTREAM(MODIFIER||177||280|FLNA|protein_coding|CODING|ENST00000444578||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||563|||FLNA|retained_intron|CODING|ENST00000474358||A),DOWNSTREAM(MODIFIER||684|||FLNA|retained_intron|CODING|ENST00000474072||A),DOWNSTREAM(MODIFIER||4195|||FLNA|processed_transcript|CODING|ENST00000466319||A),EXON(MODIFIER|||||FLNA|retained_intron|CODING|ENST00000490936|13|A),EXON(MODIFIER|||||FLNA|retained_intron|CODING|ENST00000466325|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205896395 Proband 35 G C . . Gene=SLC26A9;MT=SNP;MM=CM;CADD=19.03;VMM=58.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L413V|887|SLC26A9|protein_coding|CODING|ENST00000340781|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L413V|791|SLC26A9|protein_coding|CODING|ENST00000367135|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L413V|887|SLC26A9|protein_coding|CODING|ENST00000367134|11|C),UPSTREAM(MODIFIER||2522|||SLC26A9|retained_intron|CODING|ENST00000461505||C),DOWNSTREAM(MODIFIER||225|||SLC26A9|retained_intron|CODING|ENST00000469392||C),EXON(MODIFIER|||||SLC26A9|retained_intron|CODING|ENST00000491127|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205901026 Proband 35 C T . . Gene=SLC26A9;MT=SNP;MM=CM;CADD=24.9;VMM=58.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V172M|887|SLC26A9|protein_coding|CODING|ENST00000340781|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V172M|791|SLC26A9|protein_coding|CODING|ENST00000367135|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V172M|887|SLC26A9|protein_coding|CODING|ENST00000367134|5|T),UPSTREAM(MODIFIER||3230|||RP4-681L3.2|antisense|NON_CODING|ENST00000421166||T),UPSTREAM(MODIFIER||3512|||SLC26A9|retained_intron|CODING|ENST00000491127||T),UPSTREAM(MODIFIER||1606|||SLC26A9|retained_intron|CODING|ENST00000469392||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 72013383 Proband 35 T C . . Gene=CLPB;MT=SNP;MM=CM;CADD=27.3;VMM=40.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R413G|712|CLPB|protein_coding|CODING|ENST00000535990|12|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R408G|707|CLPB|protein_coding|CODING|ENST00000294053|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R378G|677|CLPB|protein_coding|CODING|ENST00000538039|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R363G|662|CLPB|protein_coding|CODING|ENST00000437826|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R349G|648|CLPB|protein_coding|CODING|ENST00000340729|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R207G|506|CLPB|protein_coding|CODING|ENST00000543042|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R16G|315|CLPB|protein_coding|CODING|ENST00000538021|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R378G|501|CLPB|nonsense_mediated_decay|CODING|ENST00000535477|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R185G|325|CLPB|protein_coding|CODING|ENST00000544382|7|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||AP000593.7|antisense|NON_CODING|ENST00000546065|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 72019641 Proband 35 C T . . Gene=CLPB;MT=SNP;MM=CM;CADD=13.27;VMM=40.68;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R367|712|CLPB|protein_coding|CODING|ENST00000535990|10|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R362|707|CLPB|protein_coding|CODING|ENST00000294053|9|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R332|677|CLPB|protein_coding|CODING|ENST00000538039|8|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R317|662|CLPB|protein_coding|CODING|ENST00000437826|10|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R303|648|CLPB|protein_coding|CODING|ENST00000340729|7|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R161|506|CLPB|protein_coding|CODING|ENST00000543042|7|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R332|501|CLPB|nonsense_mediated_decay|CODING|ENST00000535477|8|T),SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R139|325|CLPB|protein_coding|CODING|ENST00000544382|5|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||13||315|CLPB|protein_coding|CODING|ENST00000538021||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70697927 Proband 35 C G . . Gene=MTSS1L;MT=SNP;MM=CM;CADD=20.4;VMM=37.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A633P|747|MTSS1L|protein_coding|CODING|ENST00000338779|15|G),UTR_5_PRIME(MODIFIER||765||200|FLJ00418|protein_coding|CODING|ENST00000597002|1|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3342||242|IL34|protein_coding|CODING|ENST00000288098||G),DOWNSTREAM(MODIFIER||3342||242|IL34|protein_coding|CODING|ENST00000429149||G),DOWNSTREAM(MODIFIER||3755||217|IL34|protein_coding|CODING|ENST00000566361||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70699387 Proband 35 C T . . Gene=MTSS1L;MT=SNP;MM=CM;CADD=16.18;VMM=37.83;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E370|747|MTSS1L|protein_coding|CODING|ENST00000338779|12|T),UTR_3_PRIME(MODIFIER||93||200|FLJ00418|protein_coding|CODING|ENST00000597002|1|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4802||242|IL34|protein_coding|CODING|ENST00000288098||T),DOWNSTREAM(MODIFIER||4802||242|IL34|protein_coding|CODING|ENST00000429149||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 179193438 Proband 35 G A . . Gene=MAML1;MT=SNP;MM=CM;CADD=22.3;VMM=46.87;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R476Q|1016|MAML1|protein_coding|CODING|ENST00000292599|2|A),UPSTREAM(MODIFIER||2415|||MAML1|retained_intron|CODING|ENST00000507385||A),UPSTREAM(MODIFIER||4491|||MAML1|retained_intron|CODING|ENST00000511027||A),EXON(MODIFIER|||||MAML1|processed_transcript|CODING|ENST00000503050|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 179201298 Proband 35 C T . . Gene=MAML1;MT=SNP;MM=CM;CADD=17.73;VMM=46.87;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P824L|1016|MAML1|protein_coding|CODING|ENST00000292599|5|T),DOWNSTREAM(MODIFIER||346|||MAML1|retained_intron|CODING|ENST00000507385||T),INTRON(MODIFIER|||||MAML1|processed_transcript|CODING|ENST00000503050|4|T),EXON(MODIFIER|||||MAML1|retained_intron|CODING|ENST00000511027|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 11783771 Proband 36 G A . . Gene=MSL3;MT=SNP;MM=XL;CADD=23.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S365N|521|MSL3|protein_coding|CODING|ENST00000312196|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S365N|416|MSL3|protein_coding|CODING|ENST00000337339|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S216N|372|MSL3|protein_coding|CODING|ENST00000361672|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S353N|509|MSL3|protein_coding|CODING|ENST00000398527|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S199N|355|MSL3|protein_coding|CODING|ENST00000380693|8|A),UTR_3_PRIME(MODIFIER||3521||127|MSL3|nonsense_mediated_decay|CODING|ENST00000468149|8|A),UTR_3_PRIME(MODIFIER||49||116|MSL3|nonsense_mediated_decay|CODING|ENST00000380691|3|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||9|||MSL3|processed_transcript|CODING|ENST00000467141||A),UPSTREAM(MODIFIER||2661|||MSL3|retained_intron|CODING|ENST00000473380||A),DOWNSTREAM(MODIFIER||3433||18|MSL3|protein_coding|CODING|ENST00000476743||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2695||223|MSL3|protein_coding|CODING|ENST00000421368||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||6||195|MSL3|protein_coding|CODING|ENST00000380692||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4598|||MSL3|retained_intron|CODING|ENST00000478462||A),DOWNSTREAM(MODIFIER||2745|||MSL3|retained_intron|CODING|ENST00000482871||A),DOWNSTREAM(MODIFIER||4070|||MSL3|processed_transcript|CODING|ENST00000473806||A),DOWNSTREAM(MODIFIER||2728|||MSL3|processed_transcript|CODING|ENST00000483645||A),DOWNSTREAM(MODIFIER||1401|||MSL3|retained_intron|CODING|ENST00000494268||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 13786693 Proband 36 T G . . Gene=OFD1;MT=SNP;MM=XL;CADD=17.32;VMM=0;EFF=DOWNSTREAM(MODIFIER||2457||328|GPM6B|protein_coding|CODING|ENST00000316715||G),DOWNSTREAM(MODIFIER||2882||246|GPM6B|protein_coding|CODING|ENST00000454189||G),DOWNSTREAM(MODIFIER||4125||302|GPM6B|protein_coding|CODING|ENST00000493677||G),DOWNSTREAM(MODIFIER||4280||183|GPM6B|protein_coding|CODING|ENST00000472735||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1012|OFD1|protein_coding|CODING|ENST00000340096|21|G),INTRON(MODIFIER||||972|OFD1|protein_coding|CODING|ENST00000380550|20|G),INTRON(MODIFIER||||872|OFD1|protein_coding|CODING|ENST00000380567|22|G),INTRON(MODIFIER|||||OFD1|processed_transcript|CODING|ENST00000490265|21|G),INTRON(MODIFIER|||||OFD1|processed_transcript|CODING|ENST00000464463|5|G),INTRON(MODIFIER|||||OFD1|processed_transcript|CODING|ENST00000474705|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 105905347 Proband 36 A T . . Gene=CXorf57;MT=SNP;MM=XL;CADD=24.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D694V|855|CXorf57|protein_coding|CODING|ENST00000372548|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D597V|758|CXorf57|protein_coding|CODING|ENST00000372544|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D405V|566|CXorf57|protein_coding|CODING|ENST00000421550|11|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CXorf57|processed_transcript|CODING|ENST00000497124|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 107683578 Proband 36 C T . . Gene=COL4A5;MT=SNP;MM=XL;CADD=20.7;VMM=0;EFF=UPSTREAM(MODIFIER||876||1691|COL4A6|protein_coding|CODING|ENST00000372216||T),UPSTREAM(MODIFIER||1918||1690|COL4A6|protein_coding|CODING|ENST00000334504||T),UPSTREAM(MODIFIER||1920||1691|COL4A6|protein_coding|CODING|ENST00000394872||T),UPSTREAM(MODIFIER||2022||1633|COL4A6|protein_coding|CODING|ENST00000538570||T),UPSTREAM(MODIFIER||2022||1666|COL4A6|protein_coding|CODING|ENST00000545689||T),UPSTREAM(MODIFIER||876|||COL4A6|retained_intron|CODING|ENST00000468338||T),UPSTREAM(MODIFIER||1918|||COL4A6|processed_transcript|CODING|ENST00000461897||T),UPSTREAM(MODIFIER||851|||COL4A6|processed_transcript|CODING|ENST00000477085||T),INTRON(MODIFIER||||1691|COL4A5|protein_coding|CODING|ENST00000328300|1|T),INTRON(MODIFIER|||||COL4A5|processed_transcript|CODING|ENST00000477429|1|T),INTRON(MODIFIER||||1685|COL4A5|protein_coding|CODING|ENST00000361603|1|T),INTRON(MODIFIER|||||COL4A5|retained_intron|CODING|ENST00000470339|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 133379290 Proband 36 C G . . Gene=CCDC160;MT=SNP;MM=XL;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L154V|325|CCDC160|protein_coding|CODING|ENST00000370809|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|L154V|325|CCDC160|protein_coding|CODING|ENST00000517294|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 17588689 Proband 36 T A . . Gene=PADI3;MT=SNP;MM=CM;CADD=28.3;VMM=88.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cAc|L112H|664|PADI3|protein_coding|CODING|ENST00000375460|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 17596817 Proband 36 C T . . Gene=PADI3;MT=SNP;MM=CM;CADD=23.1;VMM=88.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R248C|664|PADI3|protein_coding|CODING|ENST00000375460|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 35298797 Proband 36 AT A . . Gene=CUL2;MT=INDEL;MM=CM;CADD=18.45;VMM=52.93;EFF=UTR_3_PRIME(MODIFIER||441||706|CUL2|protein_coding|CODING|ENST00000374746|19|A),UTR_3_PRIME(MODIFIER||441||745|CUL2|protein_coding|CODING|ENST00000374748|22|A),UTR_3_PRIME(MODIFIER||441||745|CUL2|protein_coding|CODING|ENST00000374749|21|A),UTR_3_PRIME(MODIFIER||441||745|CUL2|protein_coding|CODING|ENST00000374751|21|A),UTR_3_PRIME(MODIFIER||51004||90|CUL2|nonsense_mediated_decay|CODING|ENST00000374754|21|A),DOWNSTREAM(MODIFIER||422||764|CUL2|protein_coding|CODING|ENST00000537177||A),DOWNSTREAM(MODIFIER||10||706|CUL2|protein_coding|CODING|ENST00000374742||A),DOWNSTREAM(MODIFIER||10||688|CUL2|protein_coding|CODING|ENST00000602371||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 35322199 Proband 36 C T . . Gene=CUL2;MT=SNP;MM=CM;CADD=23.7;VMM=52.93;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M354I|764|CUL2|protein_coding|CODING|ENST00000537177|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M335I|706|CUL2|protein_coding|CODING|ENST00000374746|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M335I|745|CUL2|protein_coding|CODING|ENST00000374748|12|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M335I|745|CUL2|protein_coding|CODING|ENST00000374749|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M335I|745|CUL2|protein_coding|CODING|ENST00000374751|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M335I|706|CUL2|protein_coding|CODING|ENST00000374742|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atA|M278I|688|CUL2|protein_coding|CODING|ENST00000602371|11|T),SPLICE_SITE_REGION(LOW||||90|CUL2|nonsense_mediated_decay|CODING|ENST00000374754|11|T),UTR_3_PRIME(MODIFIER||27603||90|CUL2|nonsense_mediated_decay|CODING|ENST00000374754|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 87361994 Proband 36 T G . . Gene=GRID1;MT=SNP;MM=CM;CADD=18.54;VMM=33.1;EFF=UTR_3_PRIME(MODIFIER||36||1009|GRID1|protein_coding|CODING|ENST00000327946|16|G),UTR_3_PRIME(MODIFIER||36||580|GRID1|protein_coding|CODING|ENST00000536331|9|G),UTR_3_PRIME(MODIFIER||11336||755|GRID1|nonsense_mediated_decay|CODING|ENST00000464741|15|G),UPSTREAM(MODIFIER||3156|||RP11-93H12.2|antisense|NON_CODING|ENST00000443311||G),EXON(MODIFIER|||||GRID1|processed_transcript|CODING|ENST00000552278|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 87361998 Proband 36 T G . . Gene=GRID1;MT=SNP;MM=CM;CADD=15.83;VMM=33.1;EFF=UTR_3_PRIME(MODIFIER||32||1009|GRID1|protein_coding|CODING|ENST00000327946|16|G),UTR_3_PRIME(MODIFIER||32||580|GRID1|protein_coding|CODING|ENST00000536331|9|G),UTR_3_PRIME(MODIFIER||11332||755|GRID1|nonsense_mediated_decay|CODING|ENST00000464741|15|G),UPSTREAM(MODIFIER||3152|||RP11-93H12.2|antisense|NON_CODING|ENST00000443311||G),EXON(MODIFIER|||||GRID1|processed_transcript|CODING|ENST00000552278|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 94750486 Proband 36 T C . . Gene=SERPINA10;MT=SNP;MM=CM;CADD=15.64;VMM=45.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q424R|484|SERPINA10|protein_coding|CODING|ENST00000554723|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q384R|444|SERPINA10|protein_coding|CODING|ENST00000393096|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q384R|444|SERPINA10|protein_coding|CODING|ENST00000261994|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q384R|444|SERPINA10|protein_coding|CODING|ENST00000554173|4|C),DOWNSTREAM(MODIFIER||4414||873|PPP4R4|protein_coding|CODING|ENST00000304338||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 94754881 Proband 36 G C . . Gene=SERPINA10;MT=SNP;MM=CM;CADD=25;VMM=45.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P285R|484|SERPINA10|protein_coding|CODING|ENST00000554723|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P245R|444|SERPINA10|protein_coding|CODING|ENST00000393096|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P245R|444|SERPINA10|protein_coding|CODING|ENST00000261994|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P245R|444|SERPINA10|protein_coding|CODING|ENST00000554173|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 41052817 Proband 36 G A . . Gene=G6PC;MT=SNP;MM=CM;CADD=13.89;VMM=56.6;EFF=UTR_5_PRIME(MODIFIER||77||357|G6PC|protein_coding|CODING|ENST00000253801|1|A),UTR_5_PRIME(MODIFIER||77||176|G6PC|protein_coding|CODING|ENST00000592383|1|A),UTR_5_PRIME(MODIFIER||77||163|G6PC|protein_coding|CODING|ENST00000585489|1|A),UPSTREAM(MODIFIER||2096|||LINC00671|lincRNA|NON_CODING|ENST00000301683||A),UPSTREAM(MODIFIER||2066|||LINC00671|lincRNA|NON_CODING|ENST00000431109||A),UPSTREAM(MODIFIER||2100|||LINC00671|lincRNA|NON_CODING|ENST00000417193||A),UPSTREAM(MODIFIER||2096|||LINC00671|lincRNA|NON_CODING|ENST00000436546||A),UPSTREAM(MODIFIER||12|||G6PC|retained_intron|CODING|ENST00000588481||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 41063408 Proband 36 C T . . Gene=G6PC;MT=SNP;MM=CM;CADD=35;VMM=56.6;EFF=STOP_GAINED(HIGH|NONSENSE|Cag/Tag|Q347*|357|G6PC|protein_coding|CODING|ENST00000253801|5|T),UTR_3_PRIME(MODIFIER||431||163|G6PC|protein_coding|CODING|ENST00000585489|4|T),DOWNSTREAM(MODIFIER||55||176|G6PC|protein_coding|CODING|ENST00000592383||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 22728468 Proband 36 T C . . Gene=GBA3;MT=SNP;MM=CM;CADD=21;VMM=57.25;EFF=DOWNSTREAM(MODIFIER||530|||CDC42P6|processed_pseudogene|NON_CODING|ENST00000421246||C),INTRON(MODIFIER||||469|GBA3|polymorphic_pseudogene|CODING|ENST00000508166|1|C),INTRON(MODIFIER||||162|GBA3|polymorphic_pseudogene|CODING|ENST00000503442|1|C),INTRON(MODIFIER||||298|GBA3|polymorphic_pseudogene|CODING|ENST00000511446|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 22728754 Proband 36 CA C . . Gene=GBA3;MT=INDEL;MM=CM;CADD=22.1;VMM=57.25;EFF=DOWNSTREAM(MODIFIER||243|||CDC42P6|processed_pseudogene|NON_CODING|ENST00000421246||C),INTRON(MODIFIER||||469|GBA3|polymorphic_pseudogene|CODING|ENST00000508166|1|C),INTRON(MODIFIER||||162|GBA3|polymorphic_pseudogene|CODING|ENST00000503442|1|C),INTRON(MODIFIER||||298|GBA3|polymorphic_pseudogene|CODING|ENST00000511446|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 42007201 Proband 36 T C . . Gene=GLI3;MT=SNP;MM=CM;CADD=13.8;VMM=41.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I808M|1580|GLI3|protein_coding|CODING|ENST00000395925|14|C),DOWNSTREAM(MODIFIER||4838|||GLI3|retained_intron|CODING|ENST00000464291||C),EXON(MODIFIER|||||GLI3|processed_transcript|CODING|ENST00000479210|13|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 42007446 Proband 36 C T . . Gene=GLI3;MT=SNP;MM=CM;CADD=26.8;VMM=41.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G727R|1580|GLI3|protein_coding|CODING|ENST00000395925|14|T),DOWNSTREAM(MODIFIER||4593|||GLI3|retained_intron|CODING|ENST00000464291||T),EXON(MODIFIER|||||GLI3|processed_transcript|CODING|ENST00000479210|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 50635848 Proband 36 C G . . Gene=TRABD;MT=SNP;MM=CNC;CADD=2.507;VMM=0;EFF=UPSTREAM(MODIFIER||3560||669|SELO|protein_coding|CODING|ENST00000380903||G),DOWNSTREAM(MODIFIER||1671|||RP3-402G11.26|antisense|NON_CODING|ENST00000608025||G),INTRON(MODIFIER||||379|TRABD|protein_coding|CODING|ENST00000395829|5|G),INTRON(MODIFIER||||376|TRABD|protein_coding|CODING|ENST00000380909|6|G),INTRON(MODIFIER||||376|TRABD|protein_coding|CODING|ENST00000303434|6|G),INTRON(MODIFIER|||||TRABD|retained_intron|CODING|ENST00000463233|6|G),INTRON(MODIFIER||||376|TRABD|protein_coding|CODING|ENST00000395827|6|G),EXON(MODIFIER|||||TRABD|retained_intron|CODING|ENST00000472677|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 50635875 Proband 36 C T . . Gene=TRABD;MT=SNP;MM=CNC;CADD=16.77;VMM=0;EFF=SPLICE_SITE_REGION+INTRON(LOW||||379|TRABD|protein_coding|CODING|ENST00000395829|5|T),SPLICE_SITE_REGION+INTRON(LOW||||376|TRABD|protein_coding|CODING|ENST00000380909|6|T),SPLICE_SITE_REGION+INTRON(LOW||||376|TRABD|protein_coding|CODING|ENST00000303434|6|T),SPLICE_SITE_REGION+INTRON(LOW|||||TRABD|retained_intron|CODING|ENST00000463233|6|T),SPLICE_SITE_REGION+INTRON(LOW||||376|TRABD|protein_coding|CODING|ENST00000395827|6|T),UPSTREAM(MODIFIER||3533||669|SELO|protein_coding|CODING|ENST00000380903||T),DOWNSTREAM(MODIFIER||1644|||RP3-402G11.26|antisense|NON_CODING|ENST00000608025||T),EXON(MODIFIER|||||TRABD|retained_intron|CODING|ENST00000472677|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 57725890 Proband 37 C T . . Gene=CLTC;MT=SNP;MM=HR;CADD=17.37;VMM=0;EFF=DOWNSTREAM(MODIFIER||1027||121|CLTC|protein_coding|CODING|ENST00000580081||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1675|CLTC|protein_coding|CODING|ENST00000269122|4|T),INTRON(MODIFIER||||1639|CLTC|protein_coding|CODING|ENST00000393043|4|T),INTRON(MODIFIER||||612|CLTC|protein_coding|CODING|ENST00000579456|3|T),INTRON(MODIFIER||||97|CLTC|nonsense_mediated_decay|CODING|ENST00000584313|3|T),INTRON(MODIFIER|||||CLTC|retained_intron|CODING|ENST00000472129|1|T),EXON(MODIFIER|||||CLTC|retained_intron|CODING|ENST00000585198|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 188327120 Proband 37 C A . . Gene=LPP;MT=SNP;MM=DN;CADD=24.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P201T|612|LPP|protein_coding|CODING|ENST00000312675|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P201T|428|LPP|protein_coding|CODING|ENST00000448637|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P201T|612|LPP|protein_coding|CODING|ENST00000543006|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P38T|252|LPP|protein_coding|CODING|ENST00000415906|1|A),DOWNSTREAM(MODIFIER||148||150|LPP|protein_coding|CODING|ENST00000416784||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||53|||LPP|processed_transcript|CODING|ENST00000494233||A),EXON(MODIFIER|||||LPP|processed_transcript|CODING|ENST00000462758|2|A),EXON(MODIFIER|||||LPP|processed_transcript|CODING|ENST00000471917|2|A),EXON(MODIFIER|||||LPP|processed_transcript|CODING|ENST00000487347|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 147525512 Proband 37 C A . . Gene=STXBP5;MT=SNP;MM=HM;CADD=17.75;VMM=0;EFF=UPSTREAM(MODIFIER||157||1151|STXBP5|protein_coding|CODING|ENST00000321680||A),UPSTREAM(MODIFIER||1909|||STXBP5-AS1|antisense|NON_CODING|ENST00000417502||A),UPSTREAM(MODIFIER||49||308|STXBP5|protein_coding|CODING|ENST00000546097||A),UPSTREAM(MODIFIER||49||1115|STXBP5|protein_coding|CODING|ENST00000367481||A),UPSTREAM(MODIFIER||157||1098|STXBP5|protein_coding|CODING|ENST00000367480||A),UPSTREAM(MODIFIER||1598||806|STXBP5|protein_coding|CODING|ENST00000179882||A),INTRON(MODIFIER|||||STXBP5-AS1|antisense|NON_CODING|ENST00000367477|1|A),INTRON(MODIFIER|||||STXBP5-AS1|antisense|NON_CODING|ENST00000427394|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 67941902 Proband 37 C T . . Gene=STARD8;MT=SNP;MM=XL;CADD=23.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R825C|1103|STARD8|protein_coding|CODING|ENST00000374599|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R745C|1023|STARD8|protein_coding|CODING|ENST00000252336|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R745C|1023|STARD8|protein_coding|CODING|ENST00000374597|10|T),UTR_3_PRIME(MODIFIER||5685||52|STARD8|nonsense_mediated_decay|CODING|ENST00000523864|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 211451474 Proband 37 A G . . Gene=RCOR3;MT=SNP;MM=CM;CADD=25.8;VMM=33.52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I178V|553|RCOR3|protein_coding|CODING|ENST00000419091|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I120V|148|RCOR3|protein_coding|CODING|ENST00000533469|6|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I178V|436|RCOR3|protein_coding|CODING|ENST00000367006|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I178V|449|RCOR3|protein_coding|CODING|ENST00000452621|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I210V|374|RCOR3|nonsense_mediated_decay|CODING|ENST00000528926|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I120V|495|RCOR3|protein_coding|CODING|ENST00000367005|5|G),UTR_3_PRIME(MODIFIER||6597||44|RCOR3|nonsense_mediated_decay|CODING|ENST00000529572|6|G),UPSTREAM(MODIFIER||1106||141|RCOR3|protein_coding|CODING|ENST00000534460||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1797||85|RCOR3|protein_coding|CODING|ENST00000534478||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 211488914 Proband 37 A G . . Gene=RCOR3;MT=SNP;MM=CM;CADD=11.95;VMM=33.52;EFF=UTR_3_PRIME(MODIFIER||1804||495|RCOR3|protein_coding|CODING|ENST00000367005|11|G),DOWNSTREAM(MODIFIER||1553||553|RCOR3|protein_coding|CODING|ENST00000419091||G),DOWNSTREAM(MODIFIER||981||436|RCOR3|protein_coding|CODING|ENST00000367006||G),DOWNSTREAM(MODIFIER||2274||449|RCOR3|protein_coding|CODING|ENST00000452621||G),DOWNSTREAM(MODIFIER||2768||374|RCOR3|nonsense_mediated_decay|CODING|ENST00000528926||G),DOWNSTREAM(MODIFIER||2098||141|RCOR3|protein_coding|CODING|ENST00000534460||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1900||239|RCOR3|protein_coding|CODING|ENST00000529763||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2753||73|RCOR3|nonsense_mediated_decay|CODING|ENST00000485186||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||985|||RCOR3|retained_intron|CODING|ENST00000486666||G),DOWNSTREAM(MODIFIER||2547|||RCOR3|retained_intron|CODING|ENST00000528066||G),DOWNSTREAM(MODIFIER||1733|||RCOR3|processed_transcript|CODING|ENST00000526255||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 26825026 Proband 37 C T . . Gene=APBB1IP;MT=SNP;MM=CM;CADD=14.35;VMM=36.79;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I308|666|APBB1IP|protein_coding|CODING|ENST00000376236|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 26830527 Proband 37 C T . . Gene=APBB1IP;MT=SNP;MM=CM;CADD=22.7;VMM=36.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A354V|666|APBB1IP|protein_coding|CODING|ENST00000376236|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117448195 Proband 37 CGT C . . Gene=FBXW8;MT=INDEL;MM=CM;CADD=35;VMM=156.45;EFF=FRAME_SHIFT(HIGH||acgtgt/|TC436|598|FBXW8|protein_coding|CODING|ENST00000309909|8|C),FRAME_SHIFT(HIGH||acgtgt/|TC370|532|FBXW8|protein_coding|CODING|ENST00000455858|8|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117465917 Proband 37 T A . . Gene=FBXW8;MT=SNP;MM=CM;CADD=28.4;VMM=156.45;EFF=STOP_GAINED(HIGH|NONSENSE|tgT/tgA|C579*|598|FBXW8|protein_coding|CODING|ENST00000309909|11|A),STOP_GAINED(HIGH|NONSENSE|tgT/tgA|C513*|532|FBXW8|protein_coding|CODING|ENST00000455858|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31318422 Proband 37 C G . . Gene=TRPM1;MT=SNP;MM=CM;CADD=23.2;VMM=30.62;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1200H|1642|TRPM1|protein_coding|CODING|ENST00000542188|26|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1161H|1603|TRPM1|protein_coding|CODING|ENST00000397795|26|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1183H|1625|TRPM1|protein_coding|CODING|ENST00000256552|27|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1085H|1527|TRPM1|protein_coding|CODING|ENST00000558768|24|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1161H|1389|TRPM1|protein_coding|CODING|ENST00000558445|26|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q276H|504|TRPM1|protein_coding|CODING|ENST00000559177|7|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||36895||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|23|G),DOWNSTREAM(MODIFIER||745|||TRPM1|retained_intron|CODING|ENST00000558212||G),DOWNSTREAM(MODIFIER||2217|||TRPM1|retained_intron|CODING|ENST00000557948||G),INTRON(MODIFIER|||||RP11-348B17.1|antisense|NON_CODING|ENST00000561299|1|G),EXON(MODIFIER|||||RP11-348B17.1|antisense|NON_CODING|ENST00000558755|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31358584 Proband 37 G A . . Gene=TRPM1;MT=SNP;MM=CM;CADD=12.13;VMM=30.62;EFF=UPSTREAM(MODIFIER||1240|||MIR211|miRNA|NON_CODING|ENST00000384969||A),UPSTREAM(MODIFIER||3630|||TRPM1|retained_intron|CODING|ENST00000558070||A),DOWNSTREAM(MODIFIER||2995||136|TRPM1|protein_coding|CODING|ENST00000559179||A),INTRON(MODIFIER||||1642|TRPM1|protein_coding|CODING|ENST00000542188|5|A),INTRON(MODIFIER||||1603|TRPM1|protein_coding|CODING|ENST00000397795|5|A),INTRON(MODIFIER||||1625|TRPM1|protein_coding|CODING|ENST00000256552|6|A),INTRON(MODIFIER||||1527|TRPM1|protein_coding|CODING|ENST00000558768|3|A),INTRON(MODIFIER||||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|3|A),INTRON(MODIFIER||||1389|TRPM1|protein_coding|CODING|ENST00000558445|5|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||504|TRPM1|protein_coding|CODING|ENST00000559177|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||300|TRPM1|nonsense_mediated_decay|CODING|ENST00000560658|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7989450 Proband 38 T C . . Gene=ALOX12B;MT=SNP;MM=DN;CADD=22.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K79R|701|ALOX12B|protein_coding|CODING|ENST00000319144|2|C),UPSTREAM(MODIFIER||1924|||MIR4314|miRNA|NON_CODING|ENST00000583321||C),DOWNSTREAM(MODIFIER||4567||164|AC129492.6|protein_coding|CODING|ENST00000399413||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 245530583 Proband 38 A C . . Gene=KIF26B;MT=SNP;MM=CM;CADD=22.6;VMM=43.56;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N305H|2108|KIF26B|protein_coding|CODING|ENST00000407071|3|C),UPSTREAM(MODIFIER||3053|||AL359983.1|miRNA|NON_CODING|ENST00000408238||C),EXON(MODIFIER|||||KIF26B|processed_transcript|CODING|ENST00000479506|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 245775405 Proband 38 T A . . Gene=KIF26B;MT=SNP;MM=CM;CADD=16.51;VMM=43.56;EFF=DOWNSTREAM(MODIFIER||2670|||RP11-522M21.2|antisense|NON_CODING|ENST00000418402||A),INTRON(MODIFIER||||2108|KIF26B|protein_coding|CODING|ENST00000407071|9|A),INTRON(MODIFIER||||1727|KIF26B|protein_coding|CODING|ENST00000366518|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61840327 Proband 38 T C . . Gene=ANK3;MT=SNP;MM=CM;CADD=23.6;VMM=52.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K1467R|4377|ANK3|protein_coding|CODING|ENST00000280772|36|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K1452R|1861|ANK3|protein_coding|CODING|ENST00000373827|36|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K50R|459|ANK3|protein_coding|CODING|ENST00000373820|3|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K592R|1001|ANK3|protein_coding|CODING|ENST00000355288|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K1459R|1868|ANK3|protein_coding|CODING|ENST00000503366|36|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K17R|185|ANK3|protein_coding|CODING|ENST00000511043|1|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1172|||Y_RNA|misc_RNA|NON_CODING|ENST00000365320||C),DOWNSTREAM(MODIFIER||1939|||ANK3|retained_intron|CODING|ENST00000508449||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61842178 Proband 38 C T . . Gene=ANK3;MT=SNP;MM=CM;CADD=18.38;VMM=52.41;EFF=UPSTREAM(MODIFIER||1800||185|ANK3|protein_coding|CODING|ENST00000511043||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||566|||Y_RNA|misc_RNA|NON_CODING|ENST00000365320||T),DOWNSTREAM(MODIFIER||88|||ANK3|retained_intron|CODING|ENST00000508449||T),DOWNSTREAM(MODIFIER||4123|||ANK3|retained_intron|CODING|ENST00000465749||T),INTRON(MODIFIER||||4377|ANK3|protein_coding|CODING|ENST00000280772|34|T),INTRON(MODIFIER||||1861|ANK3|protein_coding|CODING|ENST00000373827|35|T),INTRON(MODIFIER||||459|ANK3|protein_coding|CODING|ENST00000373820|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1001|ANK3|protein_coding|CODING|ENST00000355288|12|T),INTRON(MODIFIER||||1868|ANK3|protein_coding|CODING|ENST00000503366|35|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 73472494 Proband 38 A G . . Gene=CDH23;MT=SNP;MM=CM;CADD=26.7;VMM=81.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N1103S|3359|CDH23|protein_coding|CODING|ENST00000224721|27|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N908S|953|CDH23|protein_coding|CODING|ENST00000466757|22|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N689S|802|CDH23|protein_coding|CODING|ENST00000442677|16|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||3199||133|C10orf105|protein_coding|CODING|ENST00000398786|2|G),UTR_3_PRIME(MODIFIER||3199||133|C10orf105|protein_coding|CODING|ENST00000441508|2|G),EXON(MODIFIER|||||CDH23|processed_transcript|CODING|ENST00000398792|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 73491873 Proband 38 A G . . Gene=CDH23;MT=SNP;MM=CM;CADD=22.9;VMM=81.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1287S|3359|CDH23|protein_coding|CODING|ENST00000224721|31|G),INTRON(MODIFIER||||133|C10orf105|protein_coding|CODING|ENST00000398786|1|G),EXON(MODIFIER|||||CDH23|processed_transcript|CODING|ENST00000398792|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 124744752 Proband 38 C T . . Gene=ROBO3;MT=SNP;MM=CM;CADD=27.7;VMM=115.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R674C|1386|ROBO3|protein_coding|CODING|ENST00000397801|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R652C|1364|ROBO3|protein_coding|CODING|ENST00000538940|12|T),UPSTREAM(MODIFIER||1265|||ROBO3|retained_intron|CODING|ENST00000527196||T),UPSTREAM(MODIFIER||1610|||ROBO3|retained_intron|CODING|ENST00000527245||T),UPSTREAM(MODIFIER||1614|||ROBO3|retained_intron|CODING|ENST00000529658||T),UPSTREAM(MODIFIER||1630|||ROBO3|processed_transcript|CODING|ENST00000531545||T),UPSTREAM(MODIFIER||1630|||ROBO3|retained_intron|CODING|ENST00000525448||T),UPSTREAM(MODIFIER||1842|||ROBO3|processed_transcript|CODING|ENST00000528144||T),UPSTREAM(MODIFIER||1872|||ROBO3|retained_intron|CODING|ENST00000531888||T),UPSTREAM(MODIFIER||1958|||ROBO3|retained_intron|CODING|ENST00000528068||T),UPSTREAM(MODIFIER||1962|||ROBO3|processed_transcript|CODING|ENST00000532472||T),UPSTREAM(MODIFIER||1966|||ROBO3|retained_intron|CODING|ENST00000531119||T),UPSTREAM(MODIFIER||1970|||ROBO3|retained_intron|CODING|ENST00000530647||T),UPSTREAM(MODIFIER||1970|||ROBO3|processed_transcript|CODING|ENST00000526551||T),UPSTREAM(MODIFIER||1986|||ROBO3|processed_transcript|CODING|ENST00000528820||T),UPSTREAM(MODIFIER||1986|||ROBO3|processed_transcript|CODING|ENST00000525482||T),UPSTREAM(MODIFIER||1990|||ROBO3|retained_intron|CODING|ENST00000534598||T),UPSTREAM(MODIFIER||2019|||ROBO3|processed_transcript|CODING|ENST00000531075||T),UPSTREAM(MODIFIER||2532||149|ROBO3|protein_coding|CODING|ENST00000543966||T),UPSTREAM(MODIFIER||3441|||ROBO3|retained_intron|CODING|ENST00000525304||T),UPSTREAM(MODIFIER||3509|||ROBO3|retained_intron|CODING|ENST00000524971||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 124745468 Proband 38 G T . . Gene=ROBO3;MT=SNP;MM=CM;CADD=28.8;VMM=115.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Tgc|G770C|1386|ROBO3|protein_coding|CODING|ENST00000397801|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Tgc|G748C|1364|ROBO3|protein_coding|CODING|ENST00000538940|14|T),UPSTREAM(MODIFIER||549|||ROBO3|retained_intron|CODING|ENST00000527196||T),UPSTREAM(MODIFIER||894|||ROBO3|retained_intron|CODING|ENST00000527245||T),UPSTREAM(MODIFIER||898|||ROBO3|retained_intron|CODING|ENST00000529658||T),UPSTREAM(MODIFIER||914|||ROBO3|processed_transcript|CODING|ENST00000531545||T),UPSTREAM(MODIFIER||914|||ROBO3|retained_intron|CODING|ENST00000525448||T),UPSTREAM(MODIFIER||1126|||ROBO3|processed_transcript|CODING|ENST00000528144||T),UPSTREAM(MODIFIER||1156|||ROBO3|retained_intron|CODING|ENST00000531888||T),UPSTREAM(MODIFIER||1242|||ROBO3|retained_intron|CODING|ENST00000528068||T),UPSTREAM(MODIFIER||1246|||ROBO3|processed_transcript|CODING|ENST00000532472||T),UPSTREAM(MODIFIER||1250|||ROBO3|retained_intron|CODING|ENST00000531119||T),UPSTREAM(MODIFIER||1254|||ROBO3|retained_intron|CODING|ENST00000530647||T),UPSTREAM(MODIFIER||1254|||ROBO3|processed_transcript|CODING|ENST00000526551||T),UPSTREAM(MODIFIER||1270|||ROBO3|processed_transcript|CODING|ENST00000528820||T),UPSTREAM(MODIFIER||1270|||ROBO3|processed_transcript|CODING|ENST00000525482||T),UPSTREAM(MODIFIER||1274|||ROBO3|retained_intron|CODING|ENST00000534598||T),UPSTREAM(MODIFIER||1303|||ROBO3|processed_transcript|CODING|ENST00000531075||T),UPSTREAM(MODIFIER||1816||149|ROBO3|protein_coding|CODING|ENST00000543966||T),UPSTREAM(MODIFIER||2725|||ROBO3|retained_intron|CODING|ENST00000525304||T),UPSTREAM(MODIFIER||2793|||ROBO3|retained_intron|CODING|ENST00000524971||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 56348122 Proband 38 G A . . Gene=MPO;MT=SNP;MM=CM;CADD=13.72;VMM=55.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T743|777|MPO|protein_coding|CODING|ENST00000340482|11|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T711|745|MPO|protein_coding|CODING|ENST00000225275|12|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T76|85|MPO|protein_coding|CODING|ENST00000577220|3|A|WARNING_TRANSCRIPT_INCOMPLETE),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||745|MPO|protein_coding|CODING||12|A),DOWNSTREAM(MODIFIER||2243||712|LPO|protein_coding|CODING|ENST00000262290||A),DOWNSTREAM(MODIFIER||2535||629|LPO|protein_coding|CODING|ENST00000582328||A),DOWNSTREAM(MODIFIER||2244||629|LPO|protein_coding|CODING|ENST00000421678||A),DOWNSTREAM(MODIFIER||2619||653|LPO|protein_coding|CODING|ENST00000543544||A),DOWNSTREAM(MODIFIER||2323||95|LPO|nonsense_mediated_decay|CODING|ENST00000580890||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2243||117|LPO|nonsense_mediated_decay|CODING|ENST00000389576||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4810|||MPO|processed_transcript|CODING|ENST00000578493||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 56350196 Proband 38 G A . . Gene=MPO;MT=SNP;MM=CM;CADD=35;VMM=55.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R601W|777|MPO|protein_coding|CODING|ENST00000340482|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R569W|745|MPO|protein_coding|CODING|ENST00000225275|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R55W|85|MPO|protein_coding|CODING|ENST00000577220|2|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4317||712|LPO|protein_coding|CODING|ENST00000262290||A),DOWNSTREAM(MODIFIER||4609||629|LPO|protein_coding|CODING|ENST00000582328||A),DOWNSTREAM(MODIFIER||4318||629|LPO|protein_coding|CODING|ENST00000421678||A),DOWNSTREAM(MODIFIER||4693||653|LPO|protein_coding|CODING|ENST00000543544||A),DOWNSTREAM(MODIFIER||4397||95|LPO|nonsense_mediated_decay|CODING|ENST00000580890||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4317||117|LPO|nonsense_mediated_decay|CODING|ENST00000389576||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2736|||MPO|processed_transcript|CODING|ENST00000578493||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74470194 Proband 38 C A . . Gene=RHBDF2;MT=SNP;MM=CM;CADD=29.1;VMM=123.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D528Y|856|RHBDF2|protein_coding|CODING|ENST00000313080|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D499Y|827|RHBDF2|protein_coding|CODING|ENST00000389760|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D499Y|827|RHBDF2|protein_coding|CODING|ENST00000591885|13|A),UPSTREAM(MODIFIER||1037||86|RHBDF2|protein_coding|CODING|ENST00000591860||A),DOWNSTREAM(MODIFIER||3995||252|AANAT|protein_coding|CODING|ENST00000250615||A),DOWNSTREAM(MODIFIER||3995||207|AANAT|protein_coding|CODING|ENST00000392492||A),DOWNSTREAM(MODIFIER||4111||92|AANAT|nonsense_mediated_decay|CODING|ENST00000587798||A),DOWNSTREAM(MODIFIER||4425||150|AANAT|protein_coding|CODING|ENST00000585649||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||92|||RHBDF2|retained_intron|CODING|ENST00000589582||A),DOWNSTREAM(MODIFIER||1811|||RHBDF2|retained_intron|CODING|ENST00000587640||A),DOWNSTREAM(MODIFIER||4970||184|RHBDF2|protein_coding|CODING|ENST00000592123||A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||RHBDF2|retained_intron|CODING|ENST00000590168|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74470203 Proband 38 T C . . Gene=RHBDF2;MT=SNP;MM=CM;CADD=28.7;VMM=123.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K525E|856|RHBDF2|protein_coding|CODING|ENST00000313080|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K496E|827|RHBDF2|protein_coding|CODING|ENST00000389760|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K496E|827|RHBDF2|protein_coding|CODING|ENST00000591885|13|C),UPSTREAM(MODIFIER||1046||86|RHBDF2|protein_coding|CODING|ENST00000591860||C),DOWNSTREAM(MODIFIER||4004||252|AANAT|protein_coding|CODING|ENST00000250615||C),DOWNSTREAM(MODIFIER||4004||207|AANAT|protein_coding|CODING|ENST00000392492||C),DOWNSTREAM(MODIFIER||4120||92|AANAT|nonsense_mediated_decay|CODING|ENST00000587798||C),DOWNSTREAM(MODIFIER||4434||150|AANAT|protein_coding|CODING|ENST00000585649||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||83|||RHBDF2|retained_intron|CODING|ENST00000589582||C),DOWNSTREAM(MODIFIER||1802|||RHBDF2|retained_intron|CODING|ENST00000587640||C),DOWNSTREAM(MODIFIER||4961||184|RHBDF2|protein_coding|CODING|ENST00000592123||C|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||RHBDF2|retained_intron|CODING|ENST00000590168|7|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 23916383 Proband 38 C A . . Gene=KLHL29;MT=SNP;MM=CM;CADD=20.5;VMM=41.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccA|P509|875|KLHL29|protein_coding|CODING|ENST00000486442|8|A),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccA|P348|541|KLHL29|protein_coding|CODING|ENST00000288548|4|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||KLHL29|retained_intron|CODING|ENST00000471654|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 23929501 Proband 38 C T . . Gene=KLHL29;MT=SNP;MM=CM;CADD=17.44;VMM=41.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C865|875|KLHL29|protein_coding|CODING|ENST00000486442|14|T),EXON(MODIFIER|||||KLHL29|retained_intron|CODING|ENST00000471654|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 60885807 Proband 38 G A . . Gene=LAMA5;MT=SNP;MM=CM;CADD=22.9;VMM=66.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R3454W|3695|LAMA5|protein_coding|CODING|ENST00000252999|75|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R619W|670|LAMA5|nonsense_mediated_decay|CODING|ENST00000370691|13|A),UPSTREAM(MODIFIER||4426|||RP11-157P1.4|antisense|NON_CODING|ENST00000414042||A),UPSTREAM(MODIFIER||1494|||LAMA5|processed_transcript|CODING|ENST00000492698||A),UPSTREAM(MODIFIER||339|||LAMA5|retained_intron|CODING|ENST00000495695||A),DOWNSTREAM(MODIFIER||1889||407|ADRM1|protein_coding|CODING|ENST00000253003||A),DOWNSTREAM(MODIFIER||4017|||ADRM1|processed_transcript|CODING|ENST00000462554||A),DOWNSTREAM(MODIFIER||4017|||ADRM1|processed_transcript|CODING|ENST00000465805||A),DOWNSTREAM(MODIFIER||506|||LAMA5|retained_intron|CODING|ENST00000462415||A),DOWNSTREAM(MODIFIER||1179|||LAMA5|retained_intron|CODING|ENST00000491036||A),DOWNSTREAM(MODIFIER||2429|||LAMA5|retained_intron|CODING|ENST00000468786||A),DOWNSTREAM(MODIFIER||4345|||LAMA5|retained_intron|CODING|ENST00000471042||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 60903022 Proband 38 G A . . Gene=LAMA5;MT=SNP;MM=CM;CADD=22.9;VMM=66.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1566L|3695|LAMA5|protein_coding|CODING|ENST00000252999|36|A),UPSTREAM(MODIFIER||3095|||LAMA5|retained_intron|CODING|ENST00000464134||A),UPSTREAM(MODIFIER||1335|||LAMA5|processed_transcript|CODING|ENST00000497363||A),DOWNSTREAM(MODIFIER||4521|||MIR4758|miRNA|NON_CODING|ENST00000577688||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 47893971 Proband 38 A G . . Gene=MAP4;MT=SNP;MM=CM;CADD=17.11;VMM=55.26;EFF=UTR_3_PRIME(MODIFIER||551||2297|MAP4|protein_coding|CODING|ENST00000426837|21|G),UTR_3_PRIME(MODIFIER||551||887|MAP4|protein_coding|CODING|ENST00000264724|12|G),UTR_3_PRIME(MODIFIER||551||811|MAP4|protein_coding|CODING|ENST00000383737|17|G),UTR_3_PRIME(MODIFIER||453||492|MAP4|protein_coding|CODING|ENST00000429422|10|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||311||1135|MAP4|protein_coding|CODING|ENST00000395734|18|G),UTR_3_PRIME(MODIFIER||551||1152|MAP4|protein_coding|CODING|ENST00000360240|19|G),UTR_3_PRIME(MODIFIER||311||828|MAP4|protein_coding|CODING|ENST00000420772|8|G),DOWNSTREAM(MODIFIER||2294||1222|DHX30|protein_coding|CODING|ENST00000457607||G),DOWNSTREAM(MODIFIER||2852|||MIR1226|miRNA|NON_CODING|ENST00000408658||G),DOWNSTREAM(MODIFIER||2286||1155|DHX30|protein_coding|CODING|ENST00000446256||G),DOWNSTREAM(MODIFIER||2288||1194|DHX30|protein_coding|CODING|ENST00000445061||G),DOWNSTREAM(MODIFIER||2289||42|DHX30|nonsense_mediated_decay|CODING|ENST00000395745||G),DOWNSTREAM(MODIFIER||2288||1166|DHX30|protein_coding|CODING|ENST00000348968||G),DOWNSTREAM(MODIFIER||3485|||DHX30|retained_intron|CODING|ENST00000474183||G),DOWNSTREAM(MODIFIER||139||249|MAP4|protein_coding|CODING|ENST00000441748||G),DOWNSTREAM(MODIFIER||139||463|MAP4|protein_coding|CODING|ENST00000335271||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2644|||MAP4|retained_intron|CODING|ENST00000477765||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 47913489 Proband 38 TG T . . Gene=MAP4;MT=INDEL;MM=CM;CADD=26.7;VMM=55.26;EFF=FRAME_SHIFT(HIGH||gca/|A1953|2297|MAP4|protein_coding|CODING|ENST00000426837|13|T),FRAME_SHIFT(HIGH||gca/|A543|887|MAP4|protein_coding|CODING|ENST00000264724|4|T),FRAME_SHIFT(HIGH||gca/|A536|811|MAP4|protein_coding|CODING|ENST00000383737|11|T),FRAME_SHIFT(HIGH||gca/|A218|492|MAP4|protein_coding|CODING|ENST00000429422|4|T|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||gca/|A808|1135|MAP4|protein_coding|CODING|ENST00000395734|11|T),FRAME_SHIFT(HIGH||gca/|A808|1152|MAP4|protein_coding|CODING|ENST00000360240|11|T),FRAME_SHIFT(HIGH||gca/|A559|828|MAP4|protein_coding|CODING|ENST00000420772|3|T),FRAME_SHIFT(HIGH||gca/|A174|463|MAP4|protein_coding|CODING|ENST00000335271|3|T|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||gca/|A543|710|MAP4|protein_coding|CODING|ENST00000383736|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||752||249|MAP4|protein_coding|CODING|ENST00000441748|3|T),DOWNSTREAM(MODIFIER||4920|||MAP4|retained_intron|CODING|ENST00000497735||T),EXON(MODIFIER|||||MAP4|processed_transcript|CODING|ENST00000462206|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 41748855 Proband 39 C T . . Gene=AXL;MT=SNP;MM=DN;CADD=21.1;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A460|894|AXL|protein_coding|CODING|ENST00000301178|11|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A451|885|AXL|protein_coding|CODING|ENST00000359092|10|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A192|626|AXL|protein_coding|CODING|ENST00000593513|8|T),EXON(MODIFIER|||||AXL|retained_intron|CODING|ENST00000599659|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 17171351 Proband 39 T C . . Gene=REPS2;MT=SNP;MM=XL;CADD=15.03;VMM=0;EFF=UTR_3_PRIME(MODIFIER||5747||660|REPS2|protein_coding|CODING|ENST00000357277|18|C),UTR_3_PRIME(MODIFIER||5747||659|REPS2|protein_coding|CODING|ENST00000303843|18|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 70678176 Proband 39 T G . . Gene=TAF1;MT=SNP;MM=XL;CADD=23.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1674W|1906|TAF1|protein_coding|CODING|ENST00000449580|35|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1697W|1895|TAF1|protein_coding|CODING|ENST00000423759|36|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1674W|1872|TAF1|protein_coding|CODING|ENST00000373790|35|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1695W|1893|TAF1|protein_coding|CODING|ENST00000276072|35|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L330W|457|TAF1|nonsense_mediated_decay|CODING|ENST00000373775|11|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L328W|489|TAF1|nonsense_mediated_decay|CODING|ENST00000437147|10|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1266|||TAF1|processed_transcript|CODING|ENST00000461157||G),UPSTREAM(MODIFIER||1344|||TAF1|processed_transcript|CODING|ENST00000467309||G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000462588|6|G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000485087|6|G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000461764|6|G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000468167|8|G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000492404|5|G),EXON(MODIFIER|||||TAF1|processed_transcript|CODING|ENST00000482544|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 133930592 Proband 39 G A . . Gene=FAM122B;MT=SNP;MM=XL;CADD=17.76;VMM=0;EFF=UTR_5_PRIME(MODIFIER||357||247|FAM122B|protein_coding|CODING|ENST00000370790|1|A),UPSTREAM(MODIFIER||207||266|FAM122B|protein_coding|CODING|ENST00000343004||A),UPSTREAM(MODIFIER||288||248|FAM122B|protein_coding|CODING|ENST00000486347||A),UPSTREAM(MODIFIER||227||115|FAM122C|protein_coding|CODING|ENST00000414371||A),INTRON(MODIFIER||||241|FAM122B|protein_coding|CODING|ENST00000298090|1|A),INTRON(MODIFIER|||||FAM122B|processed_transcript|CODING|ENST00000493333|1|A),INTRON(MODIFIER|||||FAM122B|processed_transcript|CODING|ENST00000467413|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28784493 Proband 39 AAACT A . . Gene=PHACTR4;MT=INDEL;MM=CM;CADD=18.56;VMM=63.97;EFF=DOWNSTREAM(MODIFIER||4049|||RP1-308E4.1|processed_pseudogene|NON_CODING|ENST00000438601||A),INTRON(MODIFIER||||712|PHACTR4|protein_coding|CODING|ENST00000373836|1|A),INTRON(MODIFIER||||702|PHACTR4|protein_coding|CODING|ENST00000373839|2|A),INTRON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000463428|2|A),INTRON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000493669|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28785729 Proband 39 GA G . . Gene=PHACTR4;MT=INDEL;MM=CM;CADD=27.6;VMM=63.97;EFF=FRAME_SHIFT(HIGH||aaa/|K61|712|PHACTR4|protein_coding|CODING|ENST00000373836|2|G),FRAME_SHIFT(HIGH||aaa/|K51|702|PHACTR4|protein_coding|CODING|ENST00000373839|3|G),EXON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000463428|3|G),EXON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000493669|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58318543 Proband 39 C T . . Gene=LPXN;MT=SNP;MM=CM;CADD=33;VMM=58.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G166R|391|LPXN|protein_coding|CODING|ENST00000528954|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G161R|386|LPXN|protein_coding|CODING|ENST00000395074|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G141R|366|LPXN|protein_coding|CODING|ENST00000528489|4|T),UTR_3_PRIME(MODIFIER||3073||106|LPXN|nonsense_mediated_decay|CODING|ENST00000530561|6|T),DOWNSTREAM(MODIFIER||3685|||LPXN|retained_intron|CODING|ENST00000529915||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58343324 Proband 39 G C . . Gene=LPXN;MT=SNP;MM=CM;CADD=14.91;VMM=58.5;EFF=UTR_5_PRIME(MODIFIER||79||386|LPXN|protein_coding|CODING|ENST00000395074|1|C),UPSTREAM(MODIFIER||3260||570|ZFP91|protein_coding|CODING|ENST00000316059||C),UPSTREAM(MODIFIER||3321||529|ZFP91-CNTF|nonsense_mediated_decay|CODING|ENST00000389919||C),UPSTREAM(MODIFIER||15||106|LPXN|nonsense_mediated_decay|CODING|ENST00000530561||C),INTRON(MODIFIER||||391|LPXN|protein_coding|CODING|ENST00000528954|1|C),INTRON(MODIFIER||||366|LPXN|protein_coding|CODING|ENST00000528489|1|C),EXON(MODIFIER|||||LPXN|retained_intron|CODING|ENST00000529915|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2086950 Proband 39 C T . . Gene=SLC9A3R2;MT=SNP;MM=CM;CADD=12.98;VMM=34.95;EFF=SPLICE_SITE_REGION+INTRON(LOW||||337|SLC9A3R2|protein_coding|CODING|ENST00000424542|4|T),SPLICE_SITE_REGION+INTRON(LOW||||326|SLC9A3R2|protein_coding|CODING|ENST00000432365|4|T),SPLICE_SITE_REGION+INTRON(LOW||||231|SLC9A3R2|protein_coding|CODING|ENST00000563587|3|T),SPLICE_SITE_REGION+INTRON(LOW||||165|SLC9A3R2|protein_coding|CODING|ENST00000561844|3|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_REGION+INTRON(LOW||||222|SLC9A3R2|protein_coding|CODING|ENST00000565855|3|T|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+INTRON(LOW||||226|SLC9A3R2|protein_coding|CODING|ENST00000566198|3|T),SPLICE_SITE_REGION+INTRON(LOW|||||SLC9A3R2|retained_intron|CODING|ENST00000564033|2|T),DOWNSTREAM(MODIFIER||2866||312|NTHL1|protein_coding|CODING|ENST00000219066||T),DOWNSTREAM(MODIFIER||560||150|SLC9A3R2|protein_coding|CODING|ENST00000567504||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||126|||SLC9A3R2|processed_transcript|CODING|ENST00000565086||T),DOWNSTREAM(MODIFIER||2871|||NTHL1|retained_intron|CODING|ENST00000561862||T),DOWNSTREAM(MODIFIER||2871|||NTHL1|retained_intron|CODING|ENST00000565406||T),DOWNSTREAM(MODIFIER||2871||235|NTHL1|protein_coding|CODING|ENST00000566380||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2872|||NTHL1|processed_transcript|CODING|ENST00000562951||T),DOWNSTREAM(MODIFIER||2872||99|NTHL1|nonsense_mediated_decay|CODING|ENST00000568513||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2874|||NTHL1|retained_intron|CODING|ENST00000567727||T),DOWNSTREAM(MODIFIER||2903||217|NTHL1|nonsense_mediated_decay|CODING|ENST00000561841||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2087552 Proband 39 C G . . Gene=SLC9A3R2;MT=SNP;MM=CM;CADD=24.3;VMM=34.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S269C|337|SLC9A3R2|protein_coding|CODING|ENST00000424542|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S269C|326|SLC9A3R2|protein_coding|CODING|ENST00000432365|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S163C|231|SLC9A3R2|protein_coding|CODING|ENST00000563587|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S140C|165|SLC9A3R2|protein_coding|CODING|ENST00000561844|5|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S156C|222|SLC9A3R2|protein_coding|CODING|ENST00000565855|5|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S158C|226|SLC9A3R2|protein_coding|CODING|ENST00000566198|5|G),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||337|SLC9A3R2|protein_coding|CODING||6|G),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||326|SLC9A3R2|protein_coding|CODING||6|G),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||226|SLC9A3R2|protein_coding|CODING||5|G),DOWNSTREAM(MODIFIER||2264||312|NTHL1|protein_coding|CODING|ENST00000219066||G),DOWNSTREAM(MODIFIER||1162||150|SLC9A3R2|protein_coding|CODING|ENST00000567504||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||728|||SLC9A3R2|processed_transcript|CODING|ENST00000565086||G),DOWNSTREAM(MODIFIER||2269|||NTHL1|retained_intron|CODING|ENST00000561862||G),DOWNSTREAM(MODIFIER||2269|||NTHL1|retained_intron|CODING|ENST00000565406||G),DOWNSTREAM(MODIFIER||2269||235|NTHL1|protein_coding|CODING|ENST00000566380||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2270|||NTHL1|processed_transcript|CODING|ENST00000562951||G),DOWNSTREAM(MODIFIER||2270||99|NTHL1|nonsense_mediated_decay|CODING|ENST00000568513||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2272|||NTHL1|retained_intron|CODING|ENST00000567727||G),DOWNSTREAM(MODIFIER||2301||217|NTHL1|nonsense_mediated_decay|CODING|ENST00000561841||G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SLC9A3R2|retained_intron|CODING|ENST00000564033|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 150503872 Proband 39 C T . . Gene=ANXA6;MT=SNP;MM=CM;CADD=20.7;VMM=34.17;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A371|673|ANXA6|protein_coding|CODING|ENST00000354546|15|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A339|641|ANXA6|protein_coding|CODING|ENST00000523714|14|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A371|667|ANXA6|protein_coding|CODING|ENST00000356496|15|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A164|460|ANXA6|protein_coding|CODING|ENST00000521512|9|T),UTR_3_PRIME(MODIFIER||2110||95|ANXA6|nonsense_mediated_decay|CODING|ENST00000519644|7|T),DOWNSTREAM(MODIFIER||2134|||ANXA6|retained_intron|CODING|ENST00000517707||T),INTRON(MODIFIER||||330|ANXA6|protein_coding|CODING|ENST00000377751|4|T),INTRON(MODIFIER||||155|ANXA6|protein_coding|CODING|ENST00000517486|5|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ANXA6|retained_intron|CODING|ENST00000520054|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 150512128 Proband 39 G A . . Gene=ANXA6;MT=SNP;MM=CM;CADD=14.67;VMM=34.17;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F215|673|ANXA6|protein_coding|CODING|ENST00000354546|10|A),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F183|641|ANXA6|protein_coding|CODING|ENST00000523714|9|A),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F215|667|ANXA6|protein_coding|CODING|ENST00000356496|10|A),UTR_3_PRIME(MODIFIER||596||129|ANXA6|nonsense_mediated_decay|CODING|ENST00000517677|8|A),UPSTREAM(MODIFIER||4196|||ANXA6|retained_intron|CODING|ENST00000520054||A),DOWNSTREAM(MODIFIER||1860||149|ANXA6|protein_coding|CODING|ENST00000521749||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3693||128|ANXA6|protein_coding|CODING|ENST00000517757||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4646|||ANXA6|retained_intron|CODING|ENST00000520378||A),DOWNSTREAM(MODIFIER||4742||109|ANXA6|protein_coding|CODING|ENST00000523164||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||330|ANXA6|protein_coding|CODING|ENST00000377751|4|A),INTRON(MODIFIER||||460|ANXA6|protein_coding|CODING|ENST00000521512|5|A),INTRON(MODIFIER||||155|ANXA6|protein_coding|CODING|ENST00000517486|5|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||95|ANXA6|nonsense_mediated_decay|CODING|ENST00000519644|5|A),EXON(MODIFIER|||||ANXA6|retained_intron|CODING|ENST00000517707|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17760808 Proband 39 CA C . . Gene=KIF13A;MT=INDEL;MM=CM;CADD=18.42;VMM=53.35;EFF=UTR_3_PRIME(MODIFIER||279||1749|KIF13A|protein_coding|CODING|ENST00000378814|38|C),UTR_3_PRIME(MODIFIER||279||801|KIF13A|protein_coding|CODING|ENST00000502297|16|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3115||1805|KIF13A|protein_coding|CODING|ENST00000259711||C),DOWNSTREAM(MODIFIER||3117||1757|KIF13A|protein_coding|CODING|ENST00000378843||C),DOWNSTREAM(MODIFIER||3117||1770|KIF13A|protein_coding|CODING|ENST00000378826||C),DOWNSTREAM(MODIFIER||3119||1770|KIF13A|protein_coding|CODING|ENST00000378816||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17764896 Proband 39 G C . . Gene=KIF13A;MT=SNP;MM=CM;CADD=23.9;VMM=53.35;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1621E|1805|KIF13A|protein_coding|CODING|ENST00000259711|39|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1573E|1749|KIF13A|protein_coding|CODING|ENST00000378814|37|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D625E|801|KIF13A|protein_coding|CODING|ENST00000502297|15|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1573E|1757|KIF13A|protein_coding|CODING|ENST00000378843|37|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1586E|1770|KIF13A|protein_coding|CODING|ENST00000378826|38|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1586E|1770|KIF13A|protein_coding|CODING|ENST00000378816|38|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 106880515 Proband 39 G T . . Gene=SMC2;MT=SNP;MM=CM;CADD=29.2;VMM=32.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A619S|1197|SMC2|protein_coding|CODING|ENST00000286398|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A619S|1197|SMC2|protein_coding|CODING|ENST00000374793|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A619S|1099|SMC2|protein_coding|CODING|ENST00000303219|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A619S|1197|SMC2|protein_coding|CODING|ENST00000374787|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 106903687 Proband 39 A G . . Gene=SMC2;MT=SNP;MM=CM;CADD=10.62;VMM=32.65;EFF=UTR_3_PRIME(MODIFIER||2091||1197|SMC2|protein_coding|CODING|ENST00000286398|25|G),UTR_3_PRIME(MODIFIER||2091||1197|SMC2|protein_coding|CODING|ENST00000374793|25|G),DOWNSTREAM(MODIFIER||1755||1197|SMC2|protein_coding|CODING|ENST00000374787||G),DOWNSTREAM(MODIFIER||1754||166|SMC2|nonsense_mediated_decay|CODING|ENST00000493955||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 77380863 Proband 40 C T . . Gene=PGK1;MT=SNP;MM=XL;CADD=26;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T385M|417|PGK1|protein_coding|CODING|ENST00000373316|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T249M|281|PGK1|protein_coding|CODING|ENST00000442431|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T357M|389|PGK1|protein_coding|CODING|ENST00000537456|10|T),DOWNSTREAM(MODIFIER||4382||251|TAF9B|protein_coding|CODING|ENST00000341864||T),DOWNSTREAM(MODIFIER||2463|||PGK1|processed_transcript|CODING|ENST00000491291||T),DOWNSTREAM(MODIFIER||2028|||PGK1|processed_transcript|CODING|ENST00000474281||T),EXON(MODIFIER|||||PGK1|processed_transcript|CODING|ENST00000476531|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153138131 Proband 40 G A . . Gene=L1CAM;MT=SNP;MM=XL;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T40M|1259|L1CAM|protein_coding|CODING|ENST00000543994|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T38M|1257|L1CAM|protein_coding|CODING|ENST00000370060|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T33M|1248|L1CAM|protein_coding|CODING|ENST00000361981|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T38M|1257|L1CAM|protein_coding|CODING|ENST00000370057|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T40M|1255|L1CAM|protein_coding|CODING|ENST00000538883|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T33M|1248|L1CAM|protein_coding|CODING|ENST00000370055|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T38M|1253|L1CAM|protein_coding|CODING|ENST00000361699|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T38M|149|L1CAM|protein_coding|CODING|ENST00000439496|3|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T33M|127|L1CAM|protein_coding|CODING|ENST00000407935|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T33M|89|L1CAM|protein_coding|CODING|ENST00000420165|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T38M|82|L1CAM|protein_coding|CODING|ENST00000458029|4|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4299||188|L1CAM|protein_coding|CODING|ENST00000455590||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4053|||L1CAM|retained_intron|CODING|ENST00000496122||A),UPSTREAM(MODIFIER||3504|||L1CAM|retained_intron|CODING|ENST00000484652||A),DOWNSTREAM(MODIFIER||273|||L1CAM|retained_intron|CODING|ENST00000460553||A),EXON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 53679809 Proband 40 G A . . Gene=ESPL1;MT=SNP;MM=CM;CADD=23;VMM=30.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1097K|2120|ESPL1|protein_coding|CODING|ENST00000257934|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1097K|2120|ESPL1|protein_coding|CODING|ENST00000552462|18|A),UTR_3_PRIME(MODIFIER||17109||49|ESPL1|nonsense_mediated_decay|CODING|ENST00000552671|18|A),UPSTREAM(MODIFIER||1231|||ESPL1|retained_intron|CODING|ENST00000549154||A),UPSTREAM(MODIFIER||1856|||ESPL1|retained_intron|CODING|ENST00000552600||A),INTRON(MODIFIER|||||ESPL1|retained_intron|CODING|ENST00000535123|6|A),INTRON(MODIFIER|||||ESPL1|retained_intron|CODING|ENST00000553016|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 53680667 Proband 40 G T . . Gene=ESPL1;MT=SNP;MM=CM;CADD=12.04;VMM=30.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V1383L|2120|ESPL1|protein_coding|CODING|ENST00000257934|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V1383L|2120|ESPL1|protein_coding|CODING|ENST00000552462|18|T),UTR_3_PRIME(MODIFIER||17967||49|ESPL1|nonsense_mediated_decay|CODING|ENST00000552671|18|T),UPSTREAM(MODIFIER||373|||ESPL1|retained_intron|CODING|ENST00000549154||T),UPSTREAM(MODIFIER||998|||ESPL1|retained_intron|CODING|ENST00000552600||T),INTRON(MODIFIER|||||ESPL1|retained_intron|CODING|ENST00000535123|6|T),INTRON(MODIFIER|||||ESPL1|retained_intron|CODING|ENST00000553016|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 25417907 Proband 40 A G . . Gene=RNF17;MT=SNP;MM=CM;CADD=14.27;VMM=38.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K877E|1623|RNF17|protein_coding|CODING|ENST00000255324|20|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K877E|1581|RNF17|protein_coding|CODING|ENST00000381921|20|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K201E|854|RNF17|protein_coding|CODING|ENST00000418120|7|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||110||633|RNF17|protein_coding|CODING|ENST00000339524||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 25444875 Proband 40 C T . . Gene=RNF17;MT=SNP;MM=CM;CADD=23.6;VMM=38.12;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCa/aTa|T1482I|1623|RNF17|protein_coding|CODING|ENST00000255324|32|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCa/aTa|T1440I|1581|RNF17|protein_coding|CODING|ENST00000381921|31|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCa/aTa|T806I|854|RNF17|protein_coding|CODING|ENST00000418120|19|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCa/aTa|T492I|633|RNF17|protein_coding|CODING|ENST00000339524|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 90773496 Proband 40 C A . . Gene=CIB1;MT=SNP;MM=CM;CADD=21.8;VMM=37.19;EFF=UTR_3_PRIME(MODIFIER||220||191|CIB1|protein_coding|CODING|ENST00000328649|7|A),UPSTREAM(MODIFIER||3544||385|GDPGP1|protein_coding|CODING|ENST00000558017||A),UPSTREAM(MODIFIER||3934||48|GDPGP1|protein_coding|CODING|ENST00000561433||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3962||213|GDPGP1|protein_coding|CODING|ENST00000559204||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3999||9|GDPGP1|protein_coding|CODING|ENST00000558291||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||594||837|SEMA4B|protein_coding|CODING|ENST00000332496||A),DOWNSTREAM(MODIFIER||917||737|SEMA4B|protein_coding|CODING|ENST00000379122||A),DOWNSTREAM(MODIFIER||588||837|SEMA4B|protein_coding|CODING|ENST00000411539||A),DOWNSTREAM(MODIFIER||1517||63|SEMA4B|nonsense_mediated_decay|CODING|ENST00000560089||A),DOWNSTREAM(MODIFIER||585|||SEMA4B|retained_intron|CODING|ENST00000558065||A),DOWNSTREAM(MODIFIER||604||460|SEMA4B|protein_coding|CODING|ENST00000559074||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4590|||SEMA4B|retained_intron|CODING|ENST00000560993||A),DOWNSTREAM(MODIFIER||4656|||SEMA4B|retained_intron|CODING|ENST00000561252||A),DOWNSTREAM(MODIFIER||2109||251|SEMA4B|protein_coding|CODING|ENST00000559983||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1857||119|SEMA4B|protein_coding|CODING|ENST00000559247||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2202|||SEMA4B|retained_intron|CODING|ENST00000561321||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 90776763 Proband 40 C A . . Gene=CIB1;MT=SNP;MM=CM;CADD=15.01;VMM=37.19;EFF=UPSTREAM(MODIFIER||277||385|GDPGP1|protein_coding|CODING|ENST00000558017||A),UPSTREAM(MODIFIER||667||48|GDPGP1|protein_coding|CODING|ENST00000561433||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||695||213|GDPGP1|protein_coding|CODING|ENST00000559204||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||732||9|GDPGP1|protein_coding|CODING|ENST00000558291||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3861||837|SEMA4B|protein_coding|CODING|ENST00000332496||A),DOWNSTREAM(MODIFIER||4184||737|SEMA4B|protein_coding|CODING|ENST00000379122||A),DOWNSTREAM(MODIFIER||3855||837|SEMA4B|protein_coding|CODING|ENST00000411539||A),DOWNSTREAM(MODIFIER||4784||63|SEMA4B|nonsense_mediated_decay|CODING|ENST00000560089||A),DOWNSTREAM(MODIFIER||3852|||SEMA4B|retained_intron|CODING|ENST00000558065||A),DOWNSTREAM(MODIFIER||3871||460|SEMA4B|protein_coding|CODING|ENST00000559074||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||191|CIB1|protein_coding|CODING|ENST00000328649|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 57406329 Proband 40 C T . . Gene=CX3CL1;MT=SNP;MM=CM;CADD=18.74;VMM=31.04;EFF=UPSTREAM(MODIFIER||60||403|CX3CL1|protein_coding|CODING|ENST00000563383||T),UPSTREAM(MODIFIER||41||397|CX3CL1|protein_coding|CODING|ENST00000006053||T),UPSTREAM(MODIFIER||108||55|CX3CL1|protein_coding|CODING|ENST00000564948||T),UPSTREAM(MODIFIER||4555||359|CX3CL1|protein_coding|CODING|ENST00000565912||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 57416231 Proband 40 G A . . Gene=CX3CL1;MT=SNP;MM=CM;CADD=14.83;VMM=31.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V167M|403|CX3CL1|protein_coding|CODING|ENST00000563383|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V161M|397|CX3CL1|protein_coding|CODING|ENST00000006053|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V123M|359|CX3CL1|protein_coding|CODING|ENST00000565912|2|A),UTR_3_PRIME(MODIFIER||192||55|CX3CL1|protein_coding|CODING|ENST00000564948|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 33691527 Proband 40 C T . . Gene=URB1;MT=SNP;MM=CM;CADD=32;VMM=42.81;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aGg/aAg|R1931K|2271|URB1|protein_coding|CODING|ENST00000382751|36|T),DOWNSTREAM(MODIFIER||4435||102|MRAP|protein_coding|CODING|ENST00000399786||T),DOWNSTREAM(MODIFIER||4432||102|MRAP|protein_coding|CODING|ENST00000339944||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 33727758 Proband 40 G A . . Gene=URB1;MT=SNP;MM=CM;CADD=12.15;VMM=42.81;EFF=SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R702|2271|URB1|protein_coding|CODING|ENST00000382751|16|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 23524460 Proband 40 G A . . Gene=PRDM9;MT=SNP;MM=CM;CADD=24.1;VMM=74.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R323Q|894|PRDM9|protein_coding|CODING|ENST00000296682|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 23527503 Proband 40 C G . . Gene=PRDM9;MT=SNP;MM=CM;CADD=23.6;VMM=74.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T769R|894|PRDM9|protein_coding|CODING|ENST00000296682|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136298758 Proband 40 C T . . Gene=ADAMTS13;MT=SNP;MM=CM;CADD=15.93;VMM=68.57;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1427|ADAMTS13|protein_coding|CODING|ENST00000371929|10|T),SPLICE_SITE_REGION+INTRON(LOW||||276|ADAMTS13|protein_coding|CODING|ENST00000371916|8|T),SPLICE_SITE_REGION+INTRON(LOW||||344|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000495234|10|T),SPLICE_SITE_REGION+INTRON(LOW||||1371|ADAMTS13|protein_coding|CODING|ENST00000355699|10|T),SPLICE_SITE_REGION+INTRON(LOW||||1340|ADAMTS13|protein_coding|CODING|ENST00000356589|10|T),SPLICE_SITE_REGION+INTRON(LOW||||364|ADAMTS13|protein_coding|CODING|ENST00000536611|4|T),DOWNSTREAM(MODIFIER||3728||344|ADAMTS13|protein_coding|CODING|ENST00000371911||T),INTRON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|7|T),INTRON(MODIFIER||||276|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000474918|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136324160 Proband 40 C CA . . Gene=ADAMTS13;MT=INDEL;MM=CM;CADD=35;VMM=68.57;EFF=FRAME_SHIFT(HIGH||tca/tcAa|S1381S?|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|29|CA),FRAME_SHIFT(HIGH||tca/tcAa|S1325S?|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|29|CA),FRAME_SHIFT(HIGH||tca/tcAa|S1294S?|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|29|CA),FRAME_SHIFT(HIGH||tca/tcAa|S177S?|223|ADAMTS13|protein_coding|CODING|ENST00000371910|5|CA),UTR_3_PRIME(MODIFIER||25624||276|ADAMTS13|protein_coding|CODING|ENST00000371916|27|CA),UPSTREAM(MODIFIER||951||233|CACFD1|protein_coding|CODING|ENST00000540581||CA),UPSTREAM(MODIFIER||928||130|CACFD1|protein_coding|CODING|ENST00000291722||CA),UPSTREAM(MODIFIER||948|||CACFD1|processed_transcript|CODING|ENST00000474734||CA),UPSTREAM(MODIFIER||948||172|CACFD1|protein_coding|CODING|ENST00000316948||CA),UPSTREAM(MODIFIER||959|||CACFD1|processed_transcript|CODING|ENST00000489519||CA),UPSTREAM(MODIFIER||994||191|CACFD1|protein_coding|CODING|ENST00000542192||CA),UPSTREAM(MODIFIER||3132||113|CACFD1|protein_coding|CODING|ENST00000444798||CA|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|18|CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 157805673 Proband 41 C A . . Gene=CD5L;MT=SNP;MM=CM;CADD=32;VMM=116.98;EFF=STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E110*|347|CD5L|protein_coding|CODING|ENST00000368174|3|A),DOWNSTREAM(MODIFIER||63|||CD5L|processed_transcript|CODING|ENST00000484609||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 157805891 Proband 41 A C . . Gene=CD5L;MT=SNP;MM=CM;CADD=25.2;VMM=116.98;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V37G|347|CD5L|protein_coding|CODING|ENST00000368174|3|C),EXON(MODIFIER|||||CD5L|processed_transcript|CODING|ENST00000484609|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2142495 Proband 41 A C . . Gene=PKD1;MT=SNP;MM=CM;CADD=22.9;VMM=83.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V3752G|4303|PKD1|protein_coding|CODING|ENST00000262304|39|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V3751G|4302|PKD1|protein_coding|CODING|ENST00000423118|39|C),UTR_3_PRIME(MODIFIER||10461||1122|PKD1|nonsense_mediated_decay|CODING|ENST00000487932|26|C|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||93||90|PKD1|nonsense_mediated_decay|CODING|ENST00000562425|3|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2210|||MIR1225|miRNA|NON_CODING|ENST00000408729||C),UPSTREAM(MODIFIER||1655|||PKD1|retained_intron|CODING|ENST00000472577||C),UPSTREAM(MODIFIER||481|||PKD1|retained_intron|CODING|ENST00000564313||C),UPSTREAM(MODIFIER||324||44|PKD1|nonsense_mediated_decay|CODING|ENST00000561668||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3782||1807|TSC2|protein_coding|CODING|ENST00000219476||C),DOWNSTREAM(MODIFIER||2336|||RP11-304L19.3|sense_intronic|NON_CODING|ENST00000565937||C),DOWNSTREAM(MODIFIER||3794||1692|TSC2|protein_coding|CODING|ENST00000382538||C),DOWNSTREAM(MODIFIER||3792||1740|TSC2|protein_coding|CODING|ENST00000401874||C),DOWNSTREAM(MODIFIER||3783||1764|TSC2|protein_coding|CODING|ENST00000353929||C),DOWNSTREAM(MODIFIER||3793||1704|TSC2|protein_coding|CODING|ENST00000439673||C),DOWNSTREAM(MODIFIER||3782||1784|TSC2|protein_coding|CODING|ENST00000350773||C),DOWNSTREAM(MODIFIER||3791||108|TSC2|nonsense_mediated_decay|CODING|ENST00000439117||C),DOWNSTREAM(MODIFIER||3779||1751|TSC2|protein_coding|CODING|ENST00000568454||C),DOWNSTREAM(MODIFIER||3783|||TSC2|retained_intron|CODING|ENST00000497886||C),DOWNSTREAM(MODIFIER||3802|||TSC2|retained_intron|CODING|ENST00000569930||C),DOWNSTREAM(MODIFIER||3803||534|TSC2|protein_coding|CODING|ENST00000569110||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||392|||PKD1|retained_intron|CODING|ENST00000472659||C),DOWNSTREAM(MODIFIER||861|||PKD1|retained_intron|CODING|ENST00000568796||C),INTRON(MODIFIER|||||RP11-304L19.1|sense_overlapping|NON_CODING|ENST00000570072|1|C),INTRON(MODIFIER|||||RP11-304L19.1|sense_overlapping|NON_CODING|ENST00000563284|1|C),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000485120|1|C),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000567355|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2152450 Proband 41 T G . . Gene=PKD1;MT=SNP;MM=CM;CADD=27.3;VMM=83.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3045P|4303|PKD1|protein_coding|CODING|ENST00000262304|25|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3045P|4302|PKD1|protein_coding|CODING|ENST00000423118|25|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T245P|605|PKD1|protein_coding|CODING|ENST00000567946|5|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||506||1122|PKD1|nonsense_mediated_decay|CODING|ENST00000487932|12|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2149|||PKD1|retained_intron|CODING|ENST00000570253||G),UPSTREAM(MODIFIER||1996|||PKD1|processed_transcript|CODING|ENST00000566905||G),UPSTREAM(MODIFIER||2556|||PKD1|processed_transcript|CODING|ENST00000566784||G),UPSTREAM(MODIFIER||2042|||PKD1|processed_transcript|CODING|ENST00000570193||G),UPSTREAM(MODIFIER||1763|||PKD1|retained_intron|CODING|ENST00000469851||G),UPSTREAM(MODIFIER||1684|||PKD1|retained_intron|CODING|ENST00000483814||G),DOWNSTREAM(MODIFIER||1068|||PKD1|processed_transcript|CODING|ENST00000561991||G),DOWNSTREAM(MODIFIER||1340|||PKD1|retained_intron|CODING|ENST00000565639||G),DOWNSTREAM(MODIFIER||2908|||PKD1|processed_transcript|CODING|ENST00000564865||G),DOWNSTREAM(MODIFIER||2929|||PKD1|retained_intron|CODING|ENST00000564890||G),DOWNSTREAM(MODIFIER||3827|||PKD1|processed_transcript|CODING|ENST00000483558||G),DOWNSTREAM(MODIFIER||4054||200|PKD1|nonsense_mediated_decay|CODING|ENST00000568591||G),DOWNSTREAM(MODIFIER||4072|||PKD1|retained_intron|CODING|ENST00000569983||G),DOWNSTREAM(MODIFIER||4141||153|PKD1|protein_coding|CODING|ENST00000483024||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4492||244|PKD1|protein_coding|CODING|ENST00000488185||G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000562297|3|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000486339|8|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000415938|11|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000483731|13|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000496574|9|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000471603|3|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000480227|3|G),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000474088|2|G),EXON(MODIFIER|||||PKD1|processed_transcript|CODING|ENST00000475889|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 45421848 Proband 41 CA C . . Gene=EFCAB13;MT=INDEL;MM=CM;CADD=12.06;VMM=46.53;EFF=DOWNSTREAM(MODIFIER||191||786|ITGB3|nonsense_mediated_decay|CODING|ENST00000560629||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||191||751|ITGB3|protein_coding|CODING|ENST00000435993||C),DOWNSTREAM(MODIFIER||2456|||EFCAB13|processed_transcript|CODING|ENST00000520802||C),DOWNSTREAM(MODIFIER||3032|||EFCAB13|retained_intron|CODING|ENST00000518646||C),DOWNSTREAM(MODIFIER||4395|||EFCAB13|processed_transcript|CODING|ENST00000518081||C),INTRON(MODIFIER||||973|EFCAB13|protein_coding|CODING|ENST00000331493|7|C),INTRON(MODIFIER||||103|EFCAB13|protein_coding|CODING|ENST00000517310|8|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||784|EFCAB13|protein_coding|CODING|ENST00000517484|7|C),INTRON(MODIFIER|||||EFCAB13|retained_intron|CODING|ENST00000520776|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 45452257 Proband 41 A T . . Gene=EFCAB13;MT=SNP;MM=CM;CADD=35;VMM=46.53;EFF=STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K433*|973|EFCAB13|protein_coding|CODING|ENST00000331493|12|T),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K337*|784|EFCAB13|protein_coding|CODING|ENST00000517484|10|T),UPSTREAM(MODIFIER||2763|||EFCAB13|retained_intron|CODING|ENST00000522326||T),UPSTREAM(MODIFIER||2925||200|EFCAB13|protein_coding|CODING|ENST00000523842||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||252||103|EFCAB13|protein_coding|CODING|ENST00000517310||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||253|||EFCAB13|processed_transcript|CODING|ENST00000523978||T),EXON(MODIFIER|||||EFCAB13|retained_intron|CODING|ENST00000520776|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 78188509 Proband 41 C T . . Gene=SGSH;MT=SNP;MM=CM;CADD=10.95;VMM=31.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R102H|227|SGSH|nonsense_mediated_decay|CODING|ENST00000573150|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R149H|274|SGSH|protein_coding|CODING|ENST00000570923|4|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A137|502|SGSH|protein_coding|CODING|ENST00000326317|4|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A4|192|SGSH|protein_coding|CODING|ENST00000572257|1|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A50|109|SGSH|protein_coding|CODING|ENST00000576707|4|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A143|186|SGSH|protein_coding|CODING|ENST00000570427|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||485||299|SGSH|protein_coding|CODING|ENST00000534910|3|T),UPSTREAM(MODIFIER||4836|||SGSH|processed_transcript|CODING|ENST00000571156||T),UPSTREAM(MODIFIER||2492||67|SGSH|protein_coding|CODING|ENST00000576856||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4989||152|SLC26A11|protein_coding|CODING|ENST00000577155||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||145|||SGSH|retained_intron|CODING|ENST00000575188||T),DOWNSTREAM(MODIFIER||2013|||SGSH|retained_intron|CODING|ENST00000571075||T),INTRON(MODIFIER||||108|SGSH|nonsense_mediated_decay|CODING|ENST00000576941|2|T),INTRON(MODIFIER||||105|SGSH|nonsense_mediated_decay|CODING|ENST00000574505|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||SGSH|processed_transcript|CODING|ENST00000572208|3|T),INTRON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000571051|3|T),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000575282|4|T),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000571675|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 78190941 Proband 41 T G . . Gene=SGSH;MT=SNP;MM=CM;CADD=27.3;VMM=31.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|502|SGSH|protein_coding|CODING|ENST00000326317|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|227|SGSH|nonsense_mediated_decay|CODING|ENST00000573150|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|108|SGSH|nonsense_mediated_decay|CODING|ENST00000576941|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T28P|105|SGSH|nonsense_mediated_decay|CODING|ENST00000574505|2|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|186|SGSH|protein_coding|CODING|ENST00000570427|2|G|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccC|P58|274|SGSH|protein_coding|CODING|ENST00000570923|2|G),UTR_5_PRIME(MODIFIER||2917||299|SGSH|protein_coding|CODING|ENST00000534910|2|G),UTR_5_PRIME(MODIFIER||2016||109|SGSH|protein_coding|CODING|ENST00000576707|2|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3288||606|SLC26A11|protein_coding|CODING|ENST00000361193||G),UPSTREAM(MODIFIER||2420||192|SGSH|protein_coding|CODING|ENST00000572257||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4924||67|SGSH|protein_coding|CODING|ENST00000576856||G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2557||152|SLC26A11|protein_coding|CODING|ENST00000577155||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3285||63|SLC26A11|protein_coding|CODING|ENST00000573809||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3296||76|SLC26A11|protein_coding|CODING|ENST00000574967||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3296|||SLC26A11|retained_intron|CODING|ENST00000572652||G),UPSTREAM(MODIFIER||3296||132|SLC26A11|protein_coding|CODING|ENST00000576126||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3296|||SLC26A11|retained_intron|CODING|ENST00000571888||G),UPSTREAM(MODIFIER||3296||606|SLC26A11|protein_coding|CODING|ENST00000411502||G),UPSTREAM(MODIFIER||3296||606|SLC26A11|protein_coding|CODING|ENST00000546047||G),UPSTREAM(MODIFIER||3305|||SLC26A11|processed_transcript|CODING|ENST00000571602||G),UPSTREAM(MODIFIER||3327|||SLC26A11|processed_transcript|CODING|ENST00000571564||G),UPSTREAM(MODIFIER||3327||606|SLC26A11|protein_coding|CODING|ENST00000572725||G),UPSTREAM(MODIFIER||4158|||SLC26A11|processed_transcript|CODING|ENST00000572226||G),UPSTREAM(MODIFIER||4204||209|SLC26A11|protein_coding|CODING|ENST00000571176||G|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000575282|2|G),EXON(MODIFIER|||||SGSH|processed_transcript|CODING|ENST00000572208|2|G),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000571051|2|G),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000571675|2|G),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000575188|2|G),EXON(MODIFIER|||||SGSH|retained_intron|CODING|ENST00000571075|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 180030322 Proband 41 C T . . Gene=FLT4;MT=SNP;MM=CM;CADD=13.68;VMM=35.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1321Q|1363|FLT4|protein_coding|CODING|ENST00000261937|30|T),DOWNSTREAM(MODIFIER||4643|||FLT4|retained_intron|CODING|ENST00000507059||T),DOWNSTREAM(MODIFIER||4643||1298|FLT4|protein_coding|CODING|ENST00000393347||T),DOWNSTREAM(MODIFIER||4646||1306|FLT4|protein_coding|CODING|ENST00000502649||T),EXON(MODIFIER|||||FLT4|retained_intron|CODING|ENST00000502603|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 180055903 Proband 41 T G . . Gene=FLT4;MT=SNP;MM=CM;CADD=23.3;VMM=35.68;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1363|FLT4|protein_coding|CODING||8|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1298|FLT4|protein_coding|CODING||8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tCc|Y361S|1363|FLT4|protein_coding|CODING|ENST00000261937|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tCc|Y361S|1298|FLT4|protein_coding|CODING|ENST00000393347|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tCc|Y361S|1306|FLT4|protein_coding|CODING|ENST00000502649|8|G),DOWNSTREAM(MODIFIER||25|||FLT4|processed_transcript|CODING|ENST00000502293||G),DOWNSTREAM(MODIFIER||876|||FLT4|processed_transcript|CODING|ENST00000513527||G),EXON(MODIFIER|||||FLT4|retained_intron|CODING|ENST00000507059|2|G),EXON(MODIFIER|||||FLT4|processed_transcript|CODING|ENST00000424276|8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136897793 Proband 41 T G . . Gene=BRD3;MT=SNP;MM=CM;CADD=15.38;VMM=36.56;EFF=UTR_3_PRIME(MODIFIER||919||726|BRD3|protein_coding|CODING|ENST00000303407|12|G),DOWNSTREAM(MODIFIER||1086|||LINC00094|antisense|NON_CODING|ENST00000603928||G),DOWNSTREAM(MODIFIER||4569|||LINC00094|antisense|NON_CODING|ENST00000430633||G),DOWNSTREAM(MODIFIER||3417|||LINC00094|antisense|NON_CODING|ENST00000550853||G),DOWNSTREAM(MODIFIER||4569|||LINC00094|antisense|NON_CODING|ENST00000432807||G),DOWNSTREAM(MODIFIER||3156|||LINC00094|antisense|NON_CODING|ENST00000552018||G),DOWNSTREAM(MODIFIER||2212|||LINC00094|antisense|NON_CODING|ENST00000599836||G),DOWNSTREAM(MODIFIER||731|||BRD3|processed_transcript|CODING|ENST00000473349||G),DOWNSTREAM(MODIFIER||3357||556|BRD3|protein_coding|CODING|ENST00000371834||G),DOWNSTREAM(MODIFIER||3893||556|BRD3|protein_coding|CODING|ENST00000357885||G),INTRON(MODIFIER|||||LINC00094|antisense|NON_CODING|ENST00000605164|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136897962 Proband 41 C T . . Gene=BRD3;MT=SNP;MM=CM;CADD=20.9;VMM=36.56;EFF=UTR_3_PRIME(MODIFIER||750||726|BRD3|protein_coding|CODING|ENST00000303407|12|T),DOWNSTREAM(MODIFIER||1255|||LINC00094|antisense|NON_CODING|ENST00000603928||T),DOWNSTREAM(MODIFIER||4738|||LINC00094|antisense|NON_CODING|ENST00000430633||T),DOWNSTREAM(MODIFIER||3586|||LINC00094|antisense|NON_CODING|ENST00000550853||T),DOWNSTREAM(MODIFIER||4738|||LINC00094|antisense|NON_CODING|ENST00000432807||T),DOWNSTREAM(MODIFIER||3325|||LINC00094|antisense|NON_CODING|ENST00000552018||T),DOWNSTREAM(MODIFIER||2381|||LINC00094|antisense|NON_CODING|ENST00000599836||T),DOWNSTREAM(MODIFIER||562|||BRD3|processed_transcript|CODING|ENST00000473349||T),DOWNSTREAM(MODIFIER||3188||556|BRD3|protein_coding|CODING|ENST00000371834||T),DOWNSTREAM(MODIFIER||3724||556|BRD3|protein_coding|CODING|ENST00000357885||T),INTRON(MODIFIER|||||LINC00094|antisense|NON_CODING|ENST00000605164|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 48808883 Proband 42 G C . . Gene=STON1,STON1-GTF2A1L;MT=SNP;MM=HR;CADD=24.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|1182|STON1-GTF2A1L|protein_coding|CODING|ENST00000309827|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|735|STON1|protein_coding|CODING|ENST00000309835|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|1182|STON1-GTF2A1L|protein_coding|CODING|ENST00000405008|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|1158|STON1-GTF2A1L|protein_coding|CODING|ENST00000402114|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|735|STON1|protein_coding|CODING|ENST00000404752|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|735|STON1|protein_coding|CODING|ENST00000406226|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|1182|STON1-GTF2A1L|protein_coding|CODING|ENST00000394754|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D371H|1135|STON1-GTF2A1L|protein_coding|CODING|ENST00000394751|1|C),UPSTREAM(MODIFIER||552||93|STON1|nonsense_mediated_decay|CODING|ENST00000444932||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 124952109 Proband 42 A C . . Gene=ZNF148;MT=SNP;MM=DN;CADD=36;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|taT/taG|Y487*|794|ZNF148|protein_coding|CODING|ENST00000360647|9|C),STOP_GAINED(HIGH|NONSENSE|taT/taG|Y487*|794|ZNF148|protein_coding|CODING|ENST00000484491|9|C),STOP_GAINED(HIGH|NONSENSE|taT/taG|Y487*|794|ZNF148|protein_coding|CODING|ENST00000492394|8|C),STOP_GAINED(HIGH|NONSENSE|taT/taG|Y487*|794|ZNF148|protein_coding|CODING|ENST00000485866|10|C),INTRON(MODIFIER||||743|SLC12A8|protein_coding|CODING|ENST00000423114|2|C),INTRON(MODIFIER||||144|ZNF148|protein_coding|CODING|ENST00000468369|5|C),INTRON(MODIFIER||||131|ZNF148|protein_coding|CODING|ENST00000544464|5|C),EXON(MODIFIER|||||ZNF148|processed_transcript|CODING|ENST00000497929|6|C),EXON(MODIFIER|||||ZNF148|processed_transcript|CODING|ENST00000496732|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 131351166 Proband 42 C T . . Gene=SPTAN1;MT=SNP;MM=DN;CADD=45;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R984*|2477|SPTAN1|protein_coding|CODING|ENST00000358161|21|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R984*|2472|SPTAN1|protein_coding|CODING|ENST00000372731|21|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R984*|2477|SPTAN1|protein_coding|CODING|ENST00000372739|21|T),UPSTREAM(MODIFIER||4097|||SPTAN1|processed_transcript|CODING|ENST00000475367||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 49086688 Proband 42 C T . . Gene=CACNA1F;MT=SNP;MM=XL;CADD=22;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G271R|1977|CACNA1F|protein_coding|CODING|ENST00000376265|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G206R|1912|CACNA1F|protein_coding|CODING|ENST00000376251|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G271R|1966|CACNA1F|protein_coding|CODING|ENST00000323022|6|T),DOWNSTREAM(MODIFIER||3727|||HSPB1P2|processed_pseudogene|NON_CODING|ENST00000448722||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 128888532 Proband 42 G C . . Gene=XPNPEP2;MT=SNP;MM=XL;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Cca|A398P|674|XPNPEP2|protein_coding|CODING|ENST00000371106|12|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34066567 Proband 42 G A . . Gene=CSMD2;MT=SNP;MM=CM;CADD=28;VMM=32.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2252W|3631|CSMD2|protein_coding|CODING|ENST00000373381|44|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2254W|3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1125W|1167|CSMD2|protein_coding|CODING|ENST00000373380|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R351W|426|CSMD2|protein_coding|CODING|ENST00000373377|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R351W|426|CSMD2|protein_coding|CODING|ENST00000373388|23|A),EXON(MODIFIER|||||CSMD2|processed_transcript|CODING|ENST00000489419|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34631210 Proband 42 C T . . Gene=CSMD2;MT=SNP;MM=CM;CADD=10.87;VMM=32.27;EFF=UPSTREAM(MODIFIER||335||3631|CSMD2|protein_coding|CODING|ENST00000373381||T),UPSTREAM(MODIFIER||1274||408|C1orf94|protein_coding|CODING|ENST00000373374||T),INTRON(MODIFIER||||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 39709040 Proband 42 G A . . Gene=KIF21A;MT=SNP;MM=CM;CADD=21.5;VMM=93.69;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCc/tTc|S1304F|1661|KIF21A|protein_coding|CODING|ENST00000361961|30|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCc/tTc|S1317F|1674|KIF21A|protein_coding|CODING|ENST00000361418|31|A),UPSTREAM(MODIFIER||2412|||KIF21A|retained_intron|CODING|ENST00000547733||A),DOWNSTREAM(MODIFIER||4744||474|KIF21A|nonsense_mediated_decay|CODING|ENST00000547108||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4752|||KIF21A|processed_transcript|CODING|ENST00000552475||A),INTRON(MODIFIER||||1675|KIF21A|protein_coding|CODING|ENST00000395670|30|A),INTRON(MODIFIER||||655|KIF21A|protein_coding|CODING|ENST00000551264|7|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||974|KIF21A|protein_coding|CODING|ENST00000552961|15|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1637|KIF21A|protein_coding|CODING|ENST00000544797|27|A),INTRON(MODIFIER||||1621|KIF21A|protein_coding|CODING|ENST00000541463|27|A),INTRON(MODIFIER|||||KIF21A|processed_transcript|CODING|ENST00000547745|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 39751215 Proband 42 C G . . Gene=KIF21A;MT=SNP;MM=CM;CADD=32;VMM=93.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G414R|1675|KIF21A|protein_coding|CODING|ENST00000395670|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G414R|1661|KIF21A|protein_coding|CODING|ENST00000361961|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G414R|1637|KIF21A|protein_coding|CODING|ENST00000544797|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G414R|1674|KIF21A|protein_coding|CODING|ENST00000361418|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G414R|1621|KIF21A|protein_coding|CODING|ENST00000541463|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G237R|289|KIF21A|protein_coding|CODING|ENST00000552908|6|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||126|||KIF21A|retained_intron|CODING|ENST00000550429||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 99087870 Proband 42 C T . . Gene=FARP1;MT=SNP;MM=CM;CADD=16.39;VMM=71.38;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H728|1076|FARP1|protein_coding|CODING|ENST00000376586|19|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H728|1076|FARP1|protein_coding|CODING|ENST00000595437|19|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H728|1045|FARP1|protein_coding|CODING|ENST00000319562|19|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H93|215|FARP1|protein_coding|CODING|ENST00000423063|2|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H80|246|FARP1|protein_coding|CODING|ENST00000596256|2|T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||619|||FARP1|retained_intron|CODING|ENST00000597777||T),EXON(MODIFIER|||||FARP1-AS1|antisense|NON_CODING|ENST00000432229|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 99092998 Proband 42 C T . . Gene=FARP1;MT=SNP;MM=CM;CADD=35;VMM=71.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R933C|1076|FARP1|protein_coding|CODING|ENST00000376586|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R933C|1076|FARP1|protein_coding|CODING|ENST00000595437|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R902C|1045|FARP1|protein_coding|CODING|ENST00000319562|24|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R231C|246|FARP1|protein_coding|CODING|ENST00000596256|6|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4904|||FARP1-AS1|antisense|NON_CODING|ENST00000432229||T),UPSTREAM(MODIFIER||4409|||FARP1|retained_intron|CODING|ENST00000594346||T),DOWNSTREAM(MODIFIER||4643||215|FARP1|protein_coding|CODING|ENST00000423063||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 36756867 Proband 42 C A . . Gene=DCLK3;MT=SNP;MM=CM;CADD=25.3;VMM=33.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E633D|648|DCLK3|protein_coding|CODING|ENST00000416516|5|A),DOWNSTREAM(MODIFIER||2717|||DCLK3|processed_transcript|CODING|ENST00000498047||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 36781355 Proband 42 G A . . Gene=DCLK3;MT=SNP;MM=CM;CADD=12.02;VMM=33.1;EFF=UPSTREAM(MODIFIER||3||648|DCLK3|protein_coding|CODING|ENST00000416516||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 41941479 Proband 42 A G . . Gene=TMEM33;MT=SNP;MM=CM;CADD=13.61;VMM=43.2;EFF=INTRON(MODIFIER||||247|TMEM33|protein_coding|CODING|ENST00000325094|3|G),INTRON(MODIFIER||||247|TMEM33|protein_coding|CODING|ENST00000504986|3|G),INTRON(MODIFIER||||221|TMEM33|protein_coding|CODING|ENST00000508448|4|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||247|TMEM33|protein_coding|CODING|ENST00000513702|4|G),INTRON(MODIFIER||||68|TMEM33|nonsense_mediated_decay|CODING|ENST00000264452|2|G),INTRON(MODIFIER|||||TMEM33|retained_intron|CODING|ENST00000510383|2|G),INTRON(MODIFIER||||68|TMEM33|nonsense_mediated_decay|CODING|ENST00000506794|2|G),INTRON(MODIFIER||||154|TMEM33|protein_coding|CODING|ENST00000513558|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 41951384 Proband 42 G A . . Gene=TMEM33;MT=SNP;MM=CM;CADD=28;VMM=43.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R199Q|247|TMEM33|protein_coding|CODING|ENST00000325094|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R199Q|247|TMEM33|protein_coding|CODING|ENST00000504986|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R199Q|221|TMEM33|protein_coding|CODING|ENST00000508448|7|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R199Q|247|TMEM33|protein_coding|CODING|ENST00000513702|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R132Q|154|TMEM33|protein_coding|CODING|ENST00000513558|4|A),UTR_3_PRIME(MODIFIER||5554||68|TMEM33|nonsense_mediated_decay|CODING|ENST00000264452|5|A),UTR_3_PRIME(MODIFIER||9580||68|TMEM33|nonsense_mediated_decay|CODING|ENST00000506794|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 170343530 Proband 42 G A . . Gene=RANBP17;MT=SNP;MM=CM;CADD=34;VMM=54.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|1088|RANBP17|protein_coding|CODING|ENST00000523189|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|576|RANBP17|nonsense_mediated_decay|CODING|ENST00000389118|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|576|RANBP17|nonsense_mediated_decay|CODING|ENST00000519256|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|576|RANBP17|nonsense_mediated_decay|CODING|ENST00000519949|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|580|RANBP17|nonsense_mediated_decay|CODING|ENST00000522066|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R299H|576|RANBP17|nonsense_mediated_decay|CODING|ENST00000522533|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R276H|553|RANBP17|nonsense_mediated_decay|CODING|ENST00000520864|8|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R81H|173|RANBP17|protein_coding|CODING|ENST00000522734|3|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1645|||RANBP17|processed_transcript|CODING|ENST00000520879||A),UPSTREAM(MODIFIER||2925|||RANBP17|processed_transcript|CODING|ENST00000522380||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 170634849 Proband 42 A G . . Gene=RANBP17;MT=SNP;MM=CM;CADD=13.91;VMM=54.94;EFF=UTR_3_PRIME(MODIFIER||178953||553|RANBP17|nonsense_mediated_decay|CODING|ENST00000520864|20|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2238|||RANBP17|processed_transcript|CODING|ENST00000520586||G),DOWNSTREAM(MODIFIER||2266|||RANBP17|processed_transcript|CODING|ENST00000523665||G),INTRON(MODIFIER||||1088|RANBP17|protein_coding|CODING|ENST00000523189|20|G),INTRON(MODIFIER||||576|RANBP17|nonsense_mediated_decay|CODING|ENST00000389118|21|G),INTRON(MODIFIER||||576|RANBP17|nonsense_mediated_decay|CODING|ENST00000519256|23|G),INTRON(MODIFIER||||576|RANBP17|nonsense_mediated_decay|CODING|ENST00000519949|22|G),INTRON(MODIFIER||||580|RANBP17|nonsense_mediated_decay|CODING|ENST00000522066|22|G),INTRON(MODIFIER||||576|RANBP17|nonsense_mediated_decay|CODING|ENST00000522533|21|G),INTRON(MODIFIER|||||RANBP17|processed_transcript|CODING|ENST00000521759|5|G),INTRON(MODIFIER|||||RANBP17|processed_transcript|CODING|ENST00000524364|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 33392223 Proband 43 A G . . Gene=CEP89;MT=SNP;MM=HR;CADD=24.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTa/tCa|L554S|783|CEP89|protein_coding|CODING|ENST00000305768|15|G),UTR_3_PRIME(MODIFIER||35697||173|CEP89|nonsense_mediated_decay|CODING|ENST00000591698|14|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||14194||428|CEP89|nonsense_mediated_decay|CODING|ENST00000586984|14|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 39818663 Proband 43 T A . . Gene=LOC286442(dist=632047),AK123758(dist=49866);MT=SNP;MM=XL;CADD=21.9;VMM=0;EFF=INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 125955222 Proband 43 C T . . Gene=CXorf64;MT=SNP;MM=XL;CADD=35;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R201*|298|CXorf64|protein_coding|CODING|ENST00000371125|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 81940857 Proband 43 AC A . . Gene=SEL1L;MT=INDEL;MM=CM;CADD=14.66;VMM=40.72;EFF=UTR_3_PRIME(MODIFIER||2458||794|SEL1L|protein_coding|CODING|ENST00000336735|21|A),DOWNSTREAM(MODIFIER||4764|||SEL1L|retained_intron|CODING|ENST00000554293||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 81972441 Proband 43 T C . . Gene=SEL1L;MT=SNP;MM=CM;CADD=24.3;VMM=40.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D162G|794|SEL1L|protein_coding|CODING|ENST00000336735|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D162G|301|SEL1L|protein_coding|CODING|ENST00000555824|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D141G|162|SEL1L|protein_coding|CODING|ENST00000557372|4|C|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||SEL1L|retained_intron|CODING|ENST00000554744|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 50338341 Proband 43 C T . . Gene=ADCY7;MT=SNP;MM=CM;CADD=34;VMM=118.93;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A480V|1080|ADCY7|protein_coding|CODING|ENST00000254235|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A480V|1080|ADCY7|protein_coding|CODING|ENST00000394697|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A480V|734|ADCY7|protein_coding|CODING|ENST00000538642|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A480V|734|ADCY7|protein_coding|CODING|ENST00000566433|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A480V|530|ADCY7|nonsense_mediated_decay|CODING|ENST00000567277|10|T),DOWNSTREAM(MODIFIER||2466|||ADCY7|processed_transcript|CODING|ENST00000568731||T),INTRON(MODIFIER||||433|ADCY7|protein_coding|CODING|ENST00000537579|9|T),EXON(MODIFIER|||||ADCY7|retained_intron|CODING|ENST00000570187|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 50342251 Proband 43 G A . . Gene=ADCY7;MT=SNP;MM=CM;CADD=24.1;VMM=118.93;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G622S|1080|ADCY7|protein_coding|CODING|ENST00000254235|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G622S|1080|ADCY7|protein_coding|CODING|ENST00000394697|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G622S|734|ADCY7|protein_coding|CODING|ENST00000538642|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G622S|734|ADCY7|protein_coding|CODING|ENST00000566433|16|A),UTR_3_PRIME(MODIFIER||2540||433|ADCY7|protein_coding|CODING|ENST00000537579|12|A),UTR_3_PRIME(MODIFIER||2805||530|ADCY7|nonsense_mediated_decay|CODING|ENST00000567277|15|A),UPSTREAM(MODIFIER||4764|||ADCY7|retained_intron|CODING|ENST00000568930||A),EXON(MODIFIER|||||ADCY7|retained_intron|CODING|ENST00000570187|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 1056425 Proband 43 C T . . Gene=ABCA7;MT=SNP;MM=CM;CADD=24.7;VMM=118.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1505C|2146|ABCA7|protein_coding|CODING|ENST00000263094|33|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1505C|2146|ABCA7|protein_coding|CODING|ENST00000433129|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1367C|2008|ABCA7|protein_coding|CODING|ENST00000435683|27|T),UPSTREAM(MODIFIER||508||590|ABCA7|protein_coding|CODING|ENST00000525073||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||614|||ABCA7|retained_intron|CODING|ENST00000529442||T),UPSTREAM(MODIFIER||614|||ABCA7|retained_intron|CODING|ENST00000532194||T),DOWNSTREAM(MODIFIER||487||60|ABCA7|nonsense_mediated_decay|CODING|ENST00000530092||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 1058658 Proband 43 G A . . Gene=ABCA7;MT=SNP;MM=CM;CADD=33;VMM=118.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1731S|2146|ABCA7|protein_coding|CODING|ENST00000263094|38|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1731S|2146|ABCA7|protein_coding|CODING|ENST00000433129|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1593S|2008|ABCA7|protein_coding|CODING|ENST00000435683|32|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G175S|590|ABCA7|protein_coding|CODING|ENST00000525073|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3602|||ABCA7|retained_intron|CODING|ENST00000525939||A),DOWNSTREAM(MODIFIER||2720||60|ABCA7|nonsense_mediated_decay|CODING|ENST00000530092||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||502|||ABCA7|retained_intron|CODING|ENST00000529442||A),EXON(MODIFIER|||||ABCA7|retained_intron|CODING|ENST00000532194|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 118829525 Proband 43 G A . . Gene=HSD17B4;MT=SNP;MM=CM;CADD=25.1;VMM=116.33;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||736|HSD17B4|protein_coding|CODING||11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R276Q|761|HSD17B4|protein_coding|CODING|ENST00000504811|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R251Q|736|HSD17B4|protein_coding|CODING|ENST00000256216|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R233Q|718|HSD17B4|protein_coding|CODING|ENST00000515320|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R251Q|500|HSD17B4|nonsense_mediated_decay|CODING|ENST00000442060|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R227Q|712|HSD17B4|protein_coding|CODING|ENST00000510025|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R111Q|596|HSD17B4|protein_coding|CODING|ENST00000414835|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R114Q|599|HSD17B4|protein_coding|CODING|ENST00000513628|6|A),UTR_5_PRIME(MODIFIER||1902||474|HSD17B4|protein_coding|CODING|ENST00000509514|6|A),UPSTREAM(MODIFIER||2711|||HSD17B4|processed_transcript|CODING|ENST00000518349||A),UPSTREAM(MODIFIER||2726|||HSD17B4|retained_intron|CODING|ENST00000512029||A),DOWNSTREAM(MODIFIER||4547|||HSD17B4|processed_transcript|CODING|ENST00000505181||A),DOWNSTREAM(MODIFIER||1706|||HSD17B4|retained_intron|CODING|ENST00000512644||A),EXON(MODIFIER|||||HSD17B4|retained_intron|CODING|ENST00000515235|10|A),EXON(MODIFIER|||||HSD17B4|processed_transcript|CODING|ENST00000520216|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 118835094 Proband 43 G A . . Gene=HSD17B4;MT=SNP;MM=CM;CADD=32;VMM=116.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G377E|761|HSD17B4|protein_coding|CODING|ENST00000504811|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G352E|736|HSD17B4|protein_coding|CODING|ENST00000256216|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G334E|718|HSD17B4|protein_coding|CODING|ENST00000515320|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G352E|500|HSD17B4|nonsense_mediated_decay|CODING|ENST00000442060|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G328E|712|HSD17B4|protein_coding|CODING|ENST00000510025|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G212E|596|HSD17B4|protein_coding|CODING|ENST00000414835|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G215E|599|HSD17B4|protein_coding|CODING|ENST00000513628|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G90E|474|HSD17B4|protein_coding|CODING|ENST00000509514|9|A),UPSTREAM(MODIFIER||2650|||HSD17B4|processed_transcript|CODING|ENST00000520244||A),EXON(MODIFIER|||||HSD17B4|retained_intron|CODING|ENST00000515235|12|A),EXON(MODIFIER|||||HSD17B4|processed_transcript|CODING|ENST00000520216|3|A),EXON(MODIFIER|||||HSD17B4|processed_transcript|CODING|ENST00000518349|2|A),EXON(MODIFIER|||||HSD17B4|retained_intron|CODING|ENST00000512029|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 47270054 Proband 44 G A . . Gene=ZNF157;MT=SNP;MM=XL;CADD=16.21;VMM=0;EFF=INTRON(MODIFIER||||506|ZNF157|protein_coding|CODING|ENST00000377073|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 67940901 Proband 44 C T . . Gene=STARD8;MT=SNP;MM=XL;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R729W|1103|STARD8|protein_coding|CODING|ENST00000374599|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R649W|1023|STARD8|protein_coding|CODING|ENST00000252336|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R649W|1023|STARD8|protein_coding|CODING|ENST00000374597|8|T),UTR_3_PRIME(MODIFIER||4684||52|STARD8|nonsense_mediated_decay|CODING|ENST00000523864|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 10761048 Proband 44 T C . . Gene=PIEZO2;MT=SNP;MM=CM;CADD=26.2;VMM=93.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1104C|2777|PIEZO2|protein_coding|CODING|ENST00000580640|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1079C|2689|PIEZO2|protein_coding|CODING|ENST00000302079|22|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1079C|2752|PIEZO2|protein_coding|CODING|ENST00000503781|22|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1093C|1473|PIEZO2|nonsense_mediated_decay|CODING|ENST00000582913|23|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y367C|562|PIEZO2|protein_coding|CODING|ENST00000383408|9|C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 11066134 Proband 44 G A . . Gene=PIEZO2;MT=SNP;MM=CM;CADD=25.9;VMM=93.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T51M|2777|PIEZO2|protein_coding|CODING|ENST00000580640|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T51M|2689|PIEZO2|protein_coding|CODING|ENST00000302079|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T51M|2752|PIEZO2|protein_coding|CODING|ENST00000503781|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T51M|1473|PIEZO2|nonsense_mediated_decay|CODING|ENST00000582913|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 6612871 Proband 44 C T . . Gene=MAN2B2;MT=SNP;MM=CM;CADD=28.2;VMM=38.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T810M|1009|MAN2B2|protein_coding|CODING|ENST00000285599|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T759M|958|MAN2B2|protein_coding|CODING|ENST00000504248|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T808M|952|MAN2B2|protein_coding|CODING|ENST00000505907|15|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1103|||MAN2B2|processed_transcript|CODING|ENST00000504960||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 6623011 Proband 44 G A . . Gene=MAN2B2;MT=SNP;MM=CM;CADD=12.28;VMM=38.06;EFF=SYNONYMOUS_STOP(LOW|SILENT|tGa/tAa|*1010|1009|MAN2B2|protein_coding|CODING|ENST00000285599|19|A),SYNONYMOUS_STOP(LOW|SILENT|tGa/tAa|*959|958|MAN2B2|protein_coding|CODING|ENST00000504248|19|A),UTR_3_PRIME(MODIFIER||3741||952|MAN2B2|protein_coding|CODING|ENST00000505907|17|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2368|||MAN2B2|processed_transcript|CODING|ENST00000510427||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 79353587 Proband 44 C G . . Gene=FRAS1;MT=SNP;MM=CM;CADD=23;VMM=75.05;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1682E|4012|FRAS1|protein_coding|CODING|ENST00000264895|38|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D1682E|1976|FRAS1|protein_coding|CODING|ENST00000325942|38|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D131E|425|FRAS1|protein_coding|CODING|ENST00000510944|5|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 79394691 Proband 44 A G . . Gene=FRAS1;MT=SNP;MM=CM;CADD=25;VMM=75.05;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2541S|4012|FRAS1|protein_coding|CODING|ENST00000264895|53|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N769S|2240|FRAS1|protein_coding|CODING|ENST00000512123|15|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 128485240 Proband 44 C T . . Gene=FLNC;MT=SNP;MM=CM;CADD=27;VMM=44.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1241C|2725|FLNC|protein_coding|CODING|ENST00000325888|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1241C|2692|FLNC|protein_coding|CODING|ENST00000346177|21|T),DOWNSTREAM(MODIFIER||4976|||RP11-309L24.2|antisense|NON_CODING|ENST00000469965||T),DOWNSTREAM(MODIFIER||2328|||FLNC|retained_intron|CODING|ENST00000388853||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 128493623 Proband 44 C T . . Gene=FLNC;MT=SNP;MM=CM;CADD=14.34;VMM=44.45;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2103|2725|FLNC|protein_coding|CODING|ENST00000325888|38|T),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T2070|2692|FLNC|protein_coding|CODING|ENST00000346177|37|T),INTRON(MODIFIER|||||RP11-309L24.2|antisense|NON_CODING|ENST00000469965|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 30858858 Proband 45 G A . . Gene=DDR1;MT=SNP;MM=DN;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|919|DDR1|protein_coding|CODING|ENST00000376575|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|285|DDR1|protein_coding|CODING|ENST00000460944|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|913|DDR1|protein_coding|CODING|ENST00000324771|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|876|DDR1|protein_coding|CODING|ENST00000418800|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|876|DDR1|protein_coding|CODING|ENST00000454612|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|876|DDR1|protein_coding|CODING|ENST00000376569|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|876|DDR1|protein_coding|CODING|ENST00000376570|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|243|DDR1|protein_coding|CODING|ENST00000446312|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|266|DDR1|protein_coding|CODING|ENST00000428153|6|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|913|DDR1|protein_coding|CODING|ENST00000376568|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|913|DDR1|protein_coding|CODING|ENST00000452441|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V18I|68|DDR1|protein_coding|CODING|ENST00000515219|3|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|243|DDR1|nonsense_mediated_decay|CODING|ENST00000482873|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V194I|894|DDR1|protein_coding|CODING|ENST00000508312|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|208|DDR1|protein_coding|CODING|ENST00000421124|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|876|DDR1|protein_coding|CODING|ENST00000376567|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V176I|919|DDR1|protein_coding|CODING|ENST00000513240|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V159I|194|DDR1|protein_coding|CODING|ENST00000424544|4|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||61|||DDR1|retained_intron|CODING|ENST00000485023||A),UPSTREAM(MODIFIER||346||492|DDR1|protein_coding|CODING|ENST00000417521||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||346||441|DDR1|protein_coding|CODING|ENST00000361741||A),UPSTREAM(MODIFIER||1539|||DDR1|retained_intron|CODING|ENST00000514534||A),UPSTREAM(MODIFIER||2274|||DDR1|processed_transcript|CODING|ENST00000465966||A),UPSTREAM(MODIFIER||2274|||DDR1|processed_transcript|CODING|ENST00000513514||A),UPSTREAM(MODIFIER||3493||170|DDR1|protein_coding|CODING|ENST00000514434||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||109|||MIR4640|miRNA|NON_CODING|ENST00000581824||A),DOWNSTREAM(MODIFIER||2094||54|DDR1|protein_coding|CODING|ENST00000502955||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1670||131|DDR1|protein_coding|CODING|ENST00000505066||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1766||99|DDR1|protein_coding|CODING|ENST00000505534||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||94||35|DDR1|nonsense_mediated_decay|CODING|ENST00000513749||A),DOWNSTREAM(MODIFIER||2105||50|DDR1|protein_coding|CODING|ENST00000503180||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1688||125|DDR1|protein_coding|CODING|ENST00000508317||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1724||113|DDR1|protein_coding|CODING|ENST00000509639||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2084||57|DDR1|protein_coding|CODING|ENST00000412274||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1834||77|DDR1|protein_coding|CODING|ENST00000507901||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1858||69|DDR1|protein_coding|CODING|ENST00000507046||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||66||152|DDR1|protein_coding|CODING|ENST00000437124||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||83||146|DDR1|protein_coding|CODING|ENST00000396342||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1849||72|DDR1|protein_coding|CODING|ENST00000504651||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||16||169|DDR1|protein_coding|CODING|ENST00000512694||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||30||35|DDR1|nonsense_mediated_decay|CODING|ENST00000503628||A),DOWNSTREAM(MODIFIER||1653||137|DDR1|protein_coding|CODING|ENST00000515233||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1812||84|DDR1|protein_coding|CODING|ENST00000515881||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2105||50|DDR1|protein_coding|CODING|ENST00000513043||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||98||141|DDR1|protein_coding|CODING|ENST00000511510||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||45||159|DDR1|protein_coding|CODING|ENST00000504927||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1874|||DDR1|retained_intron|CODING|ENST00000513243||A),DOWNSTREAM(MODIFIER||1666|||DDR1|retained_intron|CODING|ENST00000504152||A),DOWNSTREAM(MODIFIER||1732||111|DDR1|protein_coding|CODING|ENST00000512336||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1652||137|DDR1|protein_coding|CODING|ENST00000512725||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1701||121|DDR1|protein_coding|CODING|ENST00000504679||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||15||195|DDR1|protein_coding|CODING|ENST00000503495||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2134||40|DDR1|protein_coding|CODING|ENST00000503670||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DDR1|retained_intron|CODING|ENST00000431373|5|A),EXON(MODIFIER|||||DDR1|processed_transcript|CODING|ENST00000508472|2|A),EXON(MODIFIER|||||DDR1|retained_intron|CODING|ENST00000507533|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 70524823 Proband 45 C G . . Gene=ITGB1BP2;MT=SNP;MM=XL;CADD=23.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N275K|347|ITGB1BP2|protein_coding|CODING|ENST00000373829|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N257K|329|ITGB1BP2|protein_coding|CODING|ENST00000538820|10|G),DOWNSTREAM(MODIFIER||3805||471|NONO|protein_coding|CODING|ENST00000276079||G),DOWNSTREAM(MODIFIER||3926|||AL590762.1|pseudogene|NON_CODING|ENST00000536900||G),DOWNSTREAM(MODIFIER||3807||382|NONO|protein_coding|CODING|ENST00000535149||G),DOWNSTREAM(MODIFIER||4704||471|NONO|protein_coding|CODING|ENST00000373856||G),DOWNSTREAM(MODIFIER||3805||471|NONO|protein_coding|CODING|ENST00000373841||G),DOWNSTREAM(MODIFIER||4704|||NONO|processed_transcript|CODING|ENST00000474431||G),DOWNSTREAM(MODIFIER||4118|||NONO|processed_transcript|CODING|ENST00000472185||G),DOWNSTREAM(MODIFIER||3805|||NONO|processed_transcript|CODING|ENST00000490044||G),DOWNSTREAM(MODIFIER||4657|||NONO|processed_transcript|CODING|ENST00000473525||G),DOWNSTREAM(MODIFIER||739|||ITGB1BP2|processed_transcript|CODING|ENST00000483897||G),DOWNSTREAM(MODIFIER||192|||ITGB1BP2|processed_transcript|CODING|ENST00000465388||G),DOWNSTREAM(MODIFIER||93|||ITGB1BP2|processed_transcript|CODING|ENST00000475413||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 103249327 Proband 45 C A . . Gene=TPP2;MT=SNP;MM=CM;CADD=21.9;VMM=38.7;EFF=UPSTREAM(MODIFIER||46||1262|TPP2|protein_coding|CODING|ENST00000376052||A),UPSTREAM(MODIFIER||26||1249|TPP2|protein_coding|CODING|ENST00000376065||A),UPSTREAM(MODIFIER||56|||TPP2|processed_transcript|CODING|ENST00000490010||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 103330821 Proband 45 G A . . Gene=TPP2;MT=SNP;MM=CM;CADD=15.44;VMM=38.7;EFF=UTR_3_PRIME(MODIFIER||155||1262|TPP2|protein_coding|CODING|ENST00000376052|30|A),UPSTREAM(MODIFIER||955|||RP11-29B2.5|lincRNA|NON_CODING|ENST00000602560||A),DOWNSTREAM(MODIFIER||10||1249|TPP2|protein_coding|CODING|ENST00000376065||A),DOWNSTREAM(MODIFIER||108|||TPP2|processed_transcript|CODING|ENST00000466153||A),DOWNSTREAM(MODIFIER||4060|||TPP2|processed_transcript|CODING|ENST00000482393||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70867931 Proband 45 C T . . Gene=HYDIN;MT=SNP;MM=CM;CADD=34;VMM=33.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R4513H|5121|HYDIN|protein_coding|CODING|ENST00000393567|79|T),UTR_3_PRIME(MODIFIER||31317||48|HYDIN|nonsense_mediated_decay|CODING|ENST00000378856|14|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70884156 Proband 45 C G . . Gene=HYDIN;MT=SNP;MM=CM;CADD=9.595;VMM=33.11;EFF=UPSTREAM(MODIFIER||2445|||RNU6ATAC25P|snRNA|NON_CODING|ENST00000408798||G),INTRON(MODIFIER||||5121|HYDIN|protein_coding|CODING|ENST00000393567|74|G),INTRON(MODIFIER||||48|HYDIN|nonsense_mediated_decay|CODING|ENST00000378856|9|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 132021422 Proband 45 C T . . Gene=POTEE;MT=SNP;MM=CM;CADD=14.16;VMM=38.11;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P798|1075|POTEE|protein_coding|CODING|ENST00000356920|15|T),UTR_3_PRIME(MODIFIER||25627||394|POTEE|protein_coding|CODING|ENST00000358087|14|T),INTRON(MODIFIER||||309|PLEKHB2|protein_coding|CODING|ENST00000303908|5|T),INTRON(MODIFIER||||309|PLEKHB2|protein_coding|CODING|ENST00000404460|6|T),EXON(MODIFIER|||||AC131180.1|unprocessed_pseudogene|NON_CODING|ENST00000514256|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 132021463 Proband 45 C G . . Gene=POTEE;MT=SNP;MM=CM;CADD=23.8;VMM=38.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P812R|1075|POTEE|protein_coding|CODING|ENST00000356920|15|G),NEXT_PROT[antibody-mapping:heterologous_protein_expression_evidence](LOW||||1075|POTEE|protein_coding|CODING||15|G),UTR_3_PRIME(MODIFIER||25668||394|POTEE|protein_coding|CODING|ENST00000358087|14|G),INTRON(MODIFIER||||309|PLEKHB2|protein_coding|CODING|ENST00000303908|5|G),INTRON(MODIFIER||||309|PLEKHB2|protein_coding|CODING|ENST00000404460|6|G),EXON(MODIFIER|||||AC131180.1|unprocessed_pseudogene|NON_CODING|ENST00000514256|15|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 154278839 Proband 45 G A . . Gene=GEMIN5;MT=SNP;MM=CM;CADD=34;VMM=39.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1016C|1508|GEMIN5|protein_coding|CODING|ENST00000285873|22|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 154299581 Proband 45 A G . . Gene=GEMIN5;MT=SNP;MM=CM;CADD=10.86;VMM=39.13;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctT/ctC|L515|1508|GEMIN5|protein_coding|CODING|ENST00000285873|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 31225616 Proband 46 C T . . Gene=TRIM72;MT=SNP;MM=DN;CADD=17.52;VMM=0;EFF=SPLICE_SITE_REGION(LOW||||477|TRIM72|protein_coding|CODING|ENST00000322122|1|T),UTR_5_PRIME(MODIFIER||444||477|TRIM72|protein_coding|CODING|ENST00000322122|1|T),DOWNSTREAM(MODIFIER||1667||89|PYDC1|protein_coding|CODING|ENST00000302964||T),DOWNSTREAM(MODIFIER||1667|||PYDC1|processed_transcript|CODING|ENST00000568383||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 101133817 Proband 46 C T . . Gene=GABBR2;MT=SNP;MM=DN;CADD=27.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A567T|941|GABBR2|protein_coding|CODING|ENST00000259455|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 30872894 Proband 46 AG A . . Gene=TAB3;MT=INDEL;MM=XL;CADD=26.7;VMM=0;EFF=FRAME_SHIFT(HIGH||cct/|P296|712|TAB3|protein_coding|CODING|ENST00000288422|7|A),FRAME_SHIFT(HIGH||cct/|P296|712|TAB3|protein_coding|CODING|ENST00000378933|3|A),FRAME_SHIFT(HIGH||cct/|P296|712|TAB3|protein_coding|CODING|ENST00000378930|2|A),FRAME_SHIFT(HIGH||cct/|P296|684|TAB3|protein_coding|CODING|ENST00000378932|7|A),FRAME_SHIFT(HIGH||cct/|P296|608|TAB3|nonsense_mediated_decay|CODING|ENST00000467136|5|A),UPSTREAM(MODIFIER||1891||83|TAB3|protein_coding|CODING|ENST00000378928||A),DOWNSTREAM(MODIFIER||71|||TAB3-AS2|antisense|NON_CODING|ENST00000445240||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 119007321 Proband 46 C T . . Gene=NDUFA1;MT=SNP;MM=XL;CADD=24.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R53C|70|NDUFA1|protein_coding|CODING|ENST00000371437|2|T),UPSTREAM(MODIFIER||1530||343|RNF113A|protein_coding|CODING|ENST00000371442||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 68012947 Proband 46 G A . . Gene=MAP2K5;MT=SNP;MM=CM;CADD=13.37;VMM=31.83;EFF=INTRON(MODIFIER||||448|MAP2K5|protein_coding|CODING|ENST00000178640|16|A),INTRON(MODIFIER||||438|MAP2K5|protein_coding|CODING|ENST00000395476|16|A),INTRON(MODIFIER||||412|MAP2K5|protein_coding|CODING|ENST00000354498|16|A),INTRON(MODIFIER|||||MAP2K5|retained_intron|CODING|ENST00000558392|12|A),INTRON(MODIFIER||||258|MAP2K5|protein_coding|CODING|ENST00000340972|10|A),INTRON(MODIFIER|||||MAP2K5|retained_intron|CODING|ENST00000557869|1|A),INTRON(MODIFIER|||||MAP2K5|processed_transcript|CODING|ENST00000558274|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 68016604 Proband 46 C T . . Gene=MAP2K5;MT=SNP;MM=CM;CADD=21.5;VMM=31.83;EFF=INTRON(MODIFIER||||448|MAP2K5|protein_coding|CODING|ENST00000178640|16|T),INTRON(MODIFIER||||438|MAP2K5|protein_coding|CODING|ENST00000395476|16|T),INTRON(MODIFIER||||412|MAP2K5|protein_coding|CODING|ENST00000354498|16|T),INTRON(MODIFIER|||||MAP2K5|retained_intron|CODING|ENST00000558392|12|T),INTRON(MODIFIER||||258|MAP2K5|protein_coding|CODING|ENST00000340972|10|T),INTRON(MODIFIER|||||MAP2K5|retained_intron|CODING|ENST00000557869|1|T),INTRON(MODIFIER|||||MAP2K5|processed_transcript|CODING|ENST00000558274|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 169780945 Proband 46 A G . . Gene=ABCB11;MT=SNP;MM=CM;CADD=17.18;VMM=73.72;EFF=INTRON(MODIFIER||||1321|ABCB11|protein_coding|CODING|ENST00000263817|27|G),INTRON(MODIFIER||||72|ABCB11|nonsense_mediated_decay|CODING|ENST00000439188|14|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 169801117 Proband 46 C T . . Gene=ABCB11;MT=SNP;MM=CM;CADD=34;VMM=73.72;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Agg|G870R|1321|ABCB11|protein_coding|CODING|ENST00000263817|21|T),SPLICE_SITE_REGION(LOW||||72|ABCB11|nonsense_mediated_decay|CODING|ENST00000439188|8|T|WARNING_TRANSCRIPT_NO_START_CODON),NEXT_PROT[transmembrane-region:Transmembrane_region](LOW||||1321|ABCB11|protein_coding|CODING||21|T),UTR_3_PRIME(MODIFIER||25717||72|ABCB11|nonsense_mediated_decay|CODING|ENST00000439188|8|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 13841872 Proband 46 G A . . Gene=DNAH5;MT=SNP;MM=CM;CADD=29.9;VMM=97.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1805C|4624|DNAH5|protein_coding|CODING|ENST00000265104|33|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 13923445 Proband 46 C T . . Gene=DNAH5;MT=SNP;MM=CM;CADD=23.6;VMM=97.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V128M|4624|DNAH5|protein_coding|CODING|ENST00000265104|4|T),EXON(MODIFIER|||||DNAH5|retained_intron|CODING|ENST00000508040|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115782089 Proband 46 G A . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=15.37;VMM=32.62;EFF=UTR_3_PRIME(MODIFIER||220||1047|SEMA6A|protein_coding|CODING|ENST00000257414|20|A),UTR_3_PRIME(MODIFIER||220||1030|SEMA6A|protein_coding|CODING|ENST00000343348|19|A),UTR_3_PRIME(MODIFIER||220||457|SEMA6A|protein_coding|CODING|ENST00000513137|2|A),UTR_3_PRIME(MODIFIER||220||507|SEMA6A|protein_coding|CODING|ENST00000282394|6|A),UTR_3_PRIME(MODIFIER||220||544|SEMA6A|protein_coding|CODING|ENST00000515129|6|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1259|||AC010296.1|pseudogene|NON_CODING|ENST00000542571||A),UPSTREAM(MODIFIER||1210|||CTB-118N6.3|antisense|NON_CODING|ENST00000508424||A),UPSTREAM(MODIFIER||1154|||CTB-118N6.3|antisense|NON_CODING|ENST00000512128||A),UPSTREAM(MODIFIER||3231|||CTB-118N6.3|antisense|NON_CODING|ENST00000510682||A),UPSTREAM(MODIFIER||3235|||CTB-118N6.3|antisense|NON_CODING|ENST00000508640||A),UPSTREAM(MODIFIER||3337|||CTB-118N6.3|antisense|NON_CODING|ENST00000514214||A),DOWNSTREAM(MODIFIER||71||409|SEMA6A|protein_coding|CODING|ENST00000503865||A),DOWNSTREAM(MODIFIER||220||1030|SEMA6A|protein_coding|CODING|ENST00000510263||A),DOWNSTREAM(MODIFIER||1295|||SEMA6A|processed_transcript|CODING|ENST00000506114||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115827321 Proband 46 A G . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=18.87;VMM=32.62;EFF=UPSTREAM(MODIFIER||4396|||SEMA6A|retained_intron|CODING|ENST00000503402||G),UPSTREAM(MODIFIER||2616|||SEMA6A|retained_intron|CODING|ENST00000510024||G),DOWNSTREAM(MODIFIER||171||158|SEMA6A|protein_coding|CODING|ENST00000515009||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4626||113|SEMA6A|protein_coding|CODING|ENST00000509665||G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1047|SEMA6A|protein_coding|CODING|ENST00000257414|7|G),INTRON(MODIFIER||||1030|SEMA6A|protein_coding|CODING|ENST00000343348|7|G),INTRON(MODIFIER||||1030|SEMA6A|protein_coding|CODING|ENST00000510263|7|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000510682|1|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000508640|1|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000514214|1|G),INTRON(MODIFIER|||||SEMA6A|processed_transcript|CODING|ENST00000502996|3|G),INTRON(MODIFIER|||||SEMA6A|processed_transcript|CODING|ENST00000503962|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 10465649 Proband 46 G A . . Gene=RP1L1;MT=SNP;MM=CM;CADD=35;VMM=37.53;EFF=STOP_GAINED(HIGH|NONSENSE|Cag/Tag|Q1987*|2400|RP1L1|protein_coding|CODING|ENST00000382483|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 10466156 Proband 46 C T . . Gene=RP1L1;MT=SNP;MM=CM;CADD=10.31;VMM=37.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A1818T|2400|RP1L1|protein_coding|CODING|ENST00000382483|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 5086521 Proband 47 A C . . Gene=ZNF594;MT=SNP;MM=DN;CADD=22.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L344W|807|ZNF594|protein_coding|CODING|ENST00000399604|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L344W|807|ZNF594|protein_coding|CODING|ENST00000575779|2|C),DOWNSTREAM(MODIFIER||725||101|ZNF594|protein_coding|CODING|ENST00000576772||C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 21741477 Proband 47 C A . . Gene=CABYR;MT=SNP;MM=DN;CADD=17.01;VMM=0;EFF=SPLICE_SITE_REGION+INTRON(LOW||||493|CABYR|nonsense_mediated_decay|CODING|ENST00000463087|5|A),SPLICE_SITE_REGION+INTRON(LOW||||379|CABYR|protein_coding|CODING|ENST00000399496|5|A),SPLICE_SITE_REGION+INTRON(LOW||||475|CABYR|nonsense_mediated_decay|CODING|ENST00000486759|4|A),SPLICE_SITE_REGION+INTRON(LOW||||221|CABYR|protein_coding|CODING|ENST00000415309|5|A),SPLICE_SITE_REGION+INTRON(LOW||||281|CABYR|protein_coding|CODING|ENST00000327201|3|A),SPLICE_SITE_REGION+INTRON(LOW||||379|CABYR|protein_coding|CODING|ENST00000581397|5|A),SPLICE_SITE_REGION+INTRON(LOW||||379|CABYR|protein_coding|CODING|ENST00000399499|5|A),SPLICE_SITE_REGION+INTRON(LOW||||292|CABYR|nonsense_mediated_decay|CODING|ENST00000582229|2|A),DOWNSTREAM(MODIFIER||531||950|OSBPL1A|protein_coding|CODING|ENST00000319481||A),DOWNSTREAM(MODIFIER||1851||395|CABYR|protein_coding|CODING|ENST00000399481||A),DOWNSTREAM(MODIFIER||532||437|OSBPL1A|protein_coding|CODING|ENST00000399443||A),DOWNSTREAM(MODIFIER||1621||568|OSBPL1A|protein_coding|CODING|ENST00000357041||A),DOWNSTREAM(MODIFIER||1644||285|OSBPL1A|protein_coding|CODING|ENST00000578013||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||RP11-799B12.4|lincRNA|NON_CODING|ENST00000583267|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 21741519 Proband 47 G T . . Gene=CABYR;MT=SNP;MM=DN;CADD=15.66;VMM=0;EFF=UTR_3_PRIME(MODIFIER||4572||493|CABYR|nonsense_mediated_decay|CODING|ENST00000463087|6|T),UTR_3_PRIME(MODIFIER||39||379|CABYR|protein_coding|CODING|ENST00000399496|6|T),UTR_3_PRIME(MODIFIER||4572||475|CABYR|nonsense_mediated_decay|CODING|ENST00000486759|5|T),UTR_3_PRIME(MODIFIER||39||221|CABYR|protein_coding|CODING|ENST00000415309|6|T),UTR_3_PRIME(MODIFIER||39||281|CABYR|protein_coding|CODING|ENST00000327201|4|T),UTR_3_PRIME(MODIFIER||39||379|CABYR|protein_coding|CODING|ENST00000581397|6|T),UTR_3_PRIME(MODIFIER||39||379|CABYR|protein_coding|CODING|ENST00000399499|6|T),UTR_3_PRIME(MODIFIER||4572||292|CABYR|nonsense_mediated_decay|CODING|ENST00000582229|3|T),DOWNSTREAM(MODIFIER||489||950|OSBPL1A|protein_coding|CODING|ENST00000319481||T),DOWNSTREAM(MODIFIER||1893||395|CABYR|protein_coding|CODING|ENST00000399481||T),DOWNSTREAM(MODIFIER||490||437|OSBPL1A|protein_coding|CODING|ENST00000399443||T),DOWNSTREAM(MODIFIER||1579||568|OSBPL1A|protein_coding|CODING|ENST00000357041||T),DOWNSTREAM(MODIFIER||1602||285|OSBPL1A|protein_coding|CODING|ENST00000578013||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||RP11-799B12.4|lincRNA|NON_CODING|ENST00000583267|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 54955397 Proband 47 C T . . Gene=TRO;MT=SNP;MM=XL;CADD=23.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S747F|1431|TRO|protein_coding|CODING|ENST00000173898|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S278F|962|TRO|protein_coding|CODING|ENST00000420798|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S350F|1034|TRO|protein_coding|CODING|ENST00000375041|11|T),DOWNSTREAM(MODIFIER||1531|||SNORA11|snoRNA|NON_CODING|ENST00000408823||T),DOWNSTREAM(MODIFIER||3997||471|PFKFB1|protein_coding|CODING|ENST00000375006||T),DOWNSTREAM(MODIFIER||3305|||TRO|processed_transcript|CODING|ENST00000484031||T),DOWNSTREAM(MODIFIER||3360||101|TRO|protein_coding|CODING|ENST00000431115||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2484|||TRO|processed_transcript|CODING|ENST00000492142||T),DOWNSTREAM(MODIFIER||17|||TRO|retained_intron|CODING|ENST00000469211||T),DOWNSTREAM(MODIFIER||4170||406|PFKFB1|protein_coding|CODING|ENST00000545676||T),DOWNSTREAM(MODIFIER||4290||271|PFKFB1|protein_coding|CODING|ENST00000374992||T),INTRON(MODIFIER||||706|TRO|protein_coding|CODING|ENST00000319167|12|T),INTRON(MODIFIER||||706|TRO|protein_coding|CODING|ENST00000375022|12|T),INTRON(MODIFIER||||309|TRO|protein_coding|CODING|ENST00000399736|11|T),INTRON(MODIFIER||||681|TRO|nonsense_mediated_decay|CODING|ENST00000445561|12|T),INTRON(MODIFIER|||||TRO|processed_transcript|CODING|ENST00000475183|3|T),EXON(MODIFIER|||||TRO|retained_intron|CODING|ENST00000492706|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 99922321 Proband 47 T A . . Gene=SRPX2;MT=SNP;MM=XL;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F338I|465|SRPX2|protein_coding|CODING|ENST00000373004|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 102531682 Proband 47 T C . . Gene=TCEAL5;MT=SNP;MM=XL;CADD=16.2;VMM=0;EFF=UTR_5_PRIME(MODIFIER||2191||206|TCEAL5|protein_coding|CODING|ENST00000372680|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 131516238 Proband 47 C T . . Gene=MBNL3;MT=SNP;MM=XL;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V341I|354|MBNL3|protein_coding|CODING|ENST00000370853|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V279I|292|MBNL3|protein_coding|CODING|ENST00000538204|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V245I|258|MBNL3|protein_coding|CODING|ENST00000394311|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V329I|342|MBNL3|protein_coding|CODING|ENST00000370857|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V291I|304|MBNL3|protein_coding|CODING|ENST00000370849|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V306I|334|MBNL3|protein_coding|CODING|ENST00000370839|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V245I|258|MBNL3|protein_coding|CODING|ENST00000370844|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V122I|150|MBNL3|protein_coding|CODING|ENST00000442191|4|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||6||241|MBNL3|protein_coding|CODING|ENST00000436215||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2453||222|MBNL3|protein_coding|CODING|ENST00000421707||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||RAP2C-AS1|antisense|NON_CODING|ENST00000441399|2|T),INTRON(MODIFIER|||||RAP2C-AS1|antisense|NON_CODING|ENST00000421483|2|T),EXON(MODIFIER|||||MBNL3|processed_transcript|CODING|ENST00000465964|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 147027114 Proband 47 GAAC G . . Gene=FMR1;MT=INDEL;MM=XL;CADD=20.6;VMM=0;EFF=CODON_DELETION(MODERATE||agaaca/aga|RT572R|632|FMR1|protein_coding|CODING|ENST00000370475|16|G),CODON_DELETION(MODERATE||agaaca/aga|RT551R|611|FMR1|protein_coding|CODING|ENST00000218200|15|G),CODON_DELETION(MODERATE||gaacaa/gaa|EQ482E|537|FMR1|protein_coding|CODING|ENST00000370471|15|G),CODON_DELETION(MODERATE||agaaca/aga|RT539R|582|FMR1|protein_coding|CODING|ENST00000370477|15|G),CODON_DELETION(MODERATE||agaaca/aga|RT549R|592|FMR1|protein_coding|CODING|ENST00000439526|15|G),CODON_DELETION(MODERATE||agaaca/aga|RT547R|590|FMR1|protein_coding|CODING|ENST00000370470|16|G),CODON_DELETION(MODERATE||agaaca/aga|RT219R|262|FMR1|protein_coding|CODING|ENST00000440235|10|G),UPSTREAM(MODIFIER||1346|||FMR1-IT1|sense_intronic|NON_CODING|ENST00000441414||G),DOWNSTREAM(MODIFIER||4959|||FMR1|processed_transcript|CODING|ENST00000475038||G),DOWNSTREAM(MODIFIER||1732|||FMR1|processed_transcript|CODING|ENST00000492846||G),EXON(MODIFIER|||||FMR1|processed_transcript|CODING|ENST00000463120|3|G),EXON(MODIFIER|||||FMR1|processed_transcript|CODING|ENST00000478848|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56401985 Proband 47 A G . . Gene=DST;MT=SNP;MM=CM;CADD=13.05;VMM=47.15;EFF=INTRON(MODIFIER||||7750|DST|protein_coding|CODING|ENST00000370754|61|G),INTRON(MODIFIER||||5171|DST|protein_coding|CODING|ENST00000244364|42|G),INTRON(MODIFIER||||7246|DST|protein_coding|CODING|ENST00000446842|48|G),INTRON(MODIFIER||||4200|DST|protein_coding|CODING|ENST00000312431|57|G),INTRON(MODIFIER||||7572|DST|protein_coding|CODING|ENST00000370769|58|G),INTRON(MODIFIER||||5457|DST|protein_coding|CODING|ENST00000421834|52|G),INTRON(MODIFIER||||5375|DST|protein_coding|CODING|ENST00000370788|52|G),INTRON(MODIFIER||||7461|DST|protein_coding|CODING|ENST00000361203|57|G),INTRON(MODIFIER|||||DST|processed_transcript|CODING|ENST00000340834|1|G),INTRON(MODIFIER|||||DST|processed_transcript|CODING|ENST00000524186|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56492955 Proband 47 G A . . Gene=DST;MT=SNP;MM=CM;CADD=32;VMM=47.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1461W|7750|DST|protein_coding|CODING|ENST00000370754|32|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R957W|5171|DST|protein_coding|CODING|ENST00000244364|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R957W|7246|DST|protein_coding|CODING|ENST00000446842|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1283W|4200|DST|protein_coding|CODING|ENST00000312431|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1283W|7572|DST|protein_coding|CODING|ENST00000370769|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1283W|5457|DST|protein_coding|CODING|ENST00000421834|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1283W|5375|DST|protein_coding|CODING|ENST00000370788|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1283W|7461|DST|protein_coding|CODING|ENST00000361203|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R957W|3059|DST|protein_coding|CODING|ENST00000439203|19|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1323W|1478|DST|protein_coding|CODING|ENST00000520645|30|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R957W|2649|DST|protein_coding|CODING|ENST00000370765|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R957W|1143|DST|protein_coding|CODING|ENST00000518935|19|A),UPSTREAM(MODIFIER||139||175|DST|protein_coding|CODING|ENST00000522360||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100830757 Proband 47 C T . . Gene=VPS13B;MT=SNP;MM=CM;CADD=51;VMM=40.16;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R2839*|4022|VPS13B|protein_coding|CODING|ENST00000358544|46|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R2814*|3997|VPS13B|protein_coding|CODING|ENST00000357162|46|T),UTR_3_PRIME(MODIFIER||310700||1427|VPS13B|protein_coding|CODING|ENST00000395996|47|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100832520 Proband 47 CT C . . Gene=VPS13B;MT=INDEL;MM=CM;CADD=8.403;VMM=40.16;EFF=INTRON(MODIFIER||||4022|VPS13B|protein_coding|CODING|ENST00000358544|49|C),INTRON(MODIFIER||||1427|VPS13B|protein_coding|CODING|ENST00000395996|50|C),INTRON(MODIFIER||||3997|VPS13B|protein_coding|CODING|ENST00000357162|49|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 97912307 Proband 47 T A . . Gene=FANCC;MT=SNP;MM=CM;CADD=25.4;VMM=30.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D195V|558|FANCC|protein_coding|CODING|ENST00000289081|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D195V|558|FANCC|protein_coding|CODING|ENST00000375305|7|A),EXON(MODIFIER|||||FANCC|processed_transcript|CODING|ENST00000493098|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 97934206 Proband 47 CAAAG C . . Gene=FANCC;MT=INDEL;MM=CM;CADD=11.21;VMM=30.44;EFF=DOWNSTREAM(MODIFIER||570|||snoU13|snoRNA|NON_CODING|ENST00000459065||C),DOWNSTREAM(MODIFIER||118||149|FANCC|protein_coding|CODING|ENST00000433829||C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||558|FANCC|protein_coding|CODING|ENST00000289081|5|C),INTRON(MODIFIER||||558|FANCC|protein_coding|CODING|ENST00000375305|5|C),INTRON(MODIFIER|||||FANCC|processed_transcript|CODING|ENST00000474949|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 13761577 Proband 48 T C . . Gene=GRIN2B;MT=SNP;MM=DN;CADD=27.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E657G|1484|GRIN2B|protein_coding|CODING|ENST00000609686|9|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 226334290 Proband 48 C T . . Gene=ACBD3;MT=SNP;MM=CM;CADD=17.43;VMM=75.23;EFF=UTR_3_PRIME(MODIFIER||21||528|ACBD3|protein_coding|CODING|ENST00000366812|8|T),UPSTREAM(MODIFIER||1414|||RP11-275I14.4|antisense|NON_CODING|ENST00000440540||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 226349320 Proband 48 G A . . Gene=ACBD3;MT=SNP;MM=CM;CADD=34;VMM=75.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R214C|528|ACBD3|protein_coding|CODING|ENST00000366812|4|A),EXON(MODIFIER|||||ACBD3|processed_transcript|CODING|ENST00000464927|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 67913912 Proband 48 G A . . Gene=EDC4;MT=SNP;MM=CM;CADD=12.73;VMM=33.52;EFF=UPSTREAM(MODIFIER||2452|||CTC-479C5.10|lincRNA|NON_CODING|ENST00000572067||A),UPSTREAM(MODIFIER||4796||165|NRN1L|protein_coding|CODING|ENST00000339176||A),UPSTREAM(MODIFIER||340|||EDC4|retained_intron|CODING|ENST00000577028||A),UPSTREAM(MODIFIER||738|||EDC4|retained_intron|CODING|ENST00000576972||A),UPSTREAM(MODIFIER||740|||EDC4|retained_intron|CODING|ENST00000572724||A),UPSTREAM(MODIFIER||907|||EDC4|retained_intron|CODING|ENST00000575514||A),UPSTREAM(MODIFIER||2058|||EDC4|retained_intron|CODING|ENST00000575507||A),UPSTREAM(MODIFIER||2440||134|EDC4|protein_coding|CODING|ENST00000577105||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2478||154|EDC4|protein_coding|CODING|ENST00000573985||A),UPSTREAM(MODIFIER||2771||175|EDC4|protein_coding|CODING|ENST00000575033||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4899||87|NRN1L|protein_coding|CODING|ENST00000576758||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2269|||AC040162.1|miRNA|NON_CODING|ENST00000408599||A),DOWNSTREAM(MODIFIER||230|||EDC4|processed_transcript|CODING|ENST00000574770||A),DOWNSTREAM(MODIFIER||270|||EDC4|retained_intron|CODING|ENST00000572031||A),INTRON(MODIFIER||||1401|EDC4|protein_coding|CODING|ENST00000358933|16|A),INTRON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000572221|15|A),INTRON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000536072|16|A),INTRON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000573992|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 67913976 Proband 48 G A . . Gene=EDC4;MT=SNP;MM=CM;CADD=23.9;VMM=33.52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E652K|1401|EDC4|protein_coding|CODING|ENST00000358933|17|A),UPSTREAM(MODIFIER||2388|||CTC-479C5.10|lincRNA|NON_CODING|ENST00000572067||A),UPSTREAM(MODIFIER||4732||165|NRN1L|protein_coding|CODING|ENST00000339176||A),UPSTREAM(MODIFIER||276|||EDC4|retained_intron|CODING|ENST00000577028||A),UPSTREAM(MODIFIER||674|||EDC4|retained_intron|CODING|ENST00000576972||A),UPSTREAM(MODIFIER||676|||EDC4|retained_intron|CODING|ENST00000572724||A),UPSTREAM(MODIFIER||843|||EDC4|retained_intron|CODING|ENST00000575514||A),UPSTREAM(MODIFIER||1994|||EDC4|retained_intron|CODING|ENST00000575507||A),UPSTREAM(MODIFIER||2376||134|EDC4|protein_coding|CODING|ENST00000577105||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2414||154|EDC4|protein_coding|CODING|ENST00000573985||A),UPSTREAM(MODIFIER||2707||175|EDC4|protein_coding|CODING|ENST00000575033||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4835||87|NRN1L|protein_coding|CODING|ENST00000576758||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2333|||AC040162.1|miRNA|NON_CODING|ENST00000408599||A),DOWNSTREAM(MODIFIER||294|||EDC4|processed_transcript|CODING|ENST00000574770||A),DOWNSTREAM(MODIFIER||334|||EDC4|retained_intron|CODING|ENST00000572031||A),EXON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000572221|16|A),EXON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000536072|17|A),EXON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000573992|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136580021 Proband 48 C A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=12.85;VMM=49.25;EFF=UTR_3_PRIME(MODIFIER||2227||920|BCLAF1|protein_coding|CODING|ENST00000531224|13|A),UTR_3_PRIME(MODIFIER||2227||869|BCLAF1|protein_coding|CODING|ENST00000353331|12|A),UTR_3_PRIME(MODIFIER||2227||871|BCLAF1|protein_coding|CODING|ENST00000527536|12|A),UTR_3_PRIME(MODIFIER||10381||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|14|A),DOWNSTREAM(MODIFIER||468||747|BCLAF1|protein_coding|CODING|ENST00000530767||A),DOWNSTREAM(MODIFIER||808||918|BCLAF1|protein_coding|CODING|ENST00000527759||A),DOWNSTREAM(MODIFIER||813||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269||A),DOWNSTREAM(MODIFIER||1597||138|BCLAF1|protein_coding|CODING|ENST00000031135||A),DOWNSTREAM(MODIFIER||1863|||BCLAF1|retained_intron|CODING|ENST00000529522||A),DOWNSTREAM(MODIFIER||2012||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384||A),DOWNSTREAM(MODIFIER||2019||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429||A),DOWNSTREAM(MODIFIER||2045||186|BCLAF1|protein_coding|CODING|ENST00000534762||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2121|||BCLAF1|processed_transcript|CODING|ENST00000529917||A),DOWNSTREAM(MODIFIER||2227||869|BCLAF1|protein_coding|CODING|ENST00000392348||A),DOWNSTREAM(MODIFIER||2418|||BCLAF1|retained_intron|CODING|ENST00000526228||A),INTRON(MODIFIER||||125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|3|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136582549 Proband 48 G A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=34;VMM=49.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R871C|920|BCLAF1|protein_coding|CODING|ENST00000531224|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000353331|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R76C|125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R822C|871|BCLAF1|protein_coding|CODING|ENST00000527536|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R698C|747|BCLAF1|protein_coding|CODING|ENST00000530767|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R869C|918|BCLAF1|protein_coding|CODING|ENST00000527759|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R89C|138|BCLAF1|protein_coding|CODING|ENST00000031135|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R137C|186|BCLAF1|protein_coding|CODING|ENST00000534762|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000392348|9|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|A),UTR_3_PRIME(MODIFIER||12702||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|A),UTR_3_PRIME(MODIFIER||7853||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|A),EXON(MODIFIER|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000526228|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 71000417 Proband 49 G A . . Gene=HKDC1;MT=SNP;MM=CM;CADD=24.4;VMM=69.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V201M|917|HKDC1|protein_coding|CODING|ENST00000354624|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V201M|806|HKDC1|protein_coding|CODING|ENST00000395086|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 71008403 Proband 49 TATG T . . Gene=HKDC1;MT=INDEL;MM=CM;CADD=22.3;VMM=69.91;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||tatggg/tgg|YG497W|917|HKDC1|protein_coding|CODING|ENST00000354624|10|T),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||tatggg/tgg|YG497W|806|HKDC1|protein_coding|CODING|ENST00000395086|10|T),EXON(MODIFIER|||||HKDC1|processed_transcript|CODING|ENST00000488706|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6650702 Proband 49 C T . . Gene=IFFO1;MT=SNP;MM=CM;CADD=35;VMM=36.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R521Q|563|IFFO1|protein_coding|CODING|ENST00000356896|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R214Q|256|IFFO1|protein_coding|CODING|ENST00000436152|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R213Q|255|IFFO1|protein_coding|CODING|ENST00000465801|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R520Q|562|IFFO1|protein_coding|CODING|ENST00000336604|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R517Q|559|IFFO1|protein_coding|CODING|ENST00000396840|8|T),UTR_3_PRIME(MODIFIER||9946||264|IFFO1|nonsense_mediated_decay|CODING|ENST00000487279|9|T),UPSTREAM(MODIFIER||3166|||RP5-940J5.9|antisense|NON_CODING|ENST00000602946||T),UPSTREAM(MODIFIER||1968|||RP5-940J5.8|antisense|NON_CODING|ENST00000499202||T),DOWNSTREAM(MODIFIER||3165||335|GAPDH|protein_coding|CODING|ENST00000229239||T),DOWNSTREAM(MODIFIER||3196||260|GAPDH|protein_coding|CODING|ENST00000396856||T),DOWNSTREAM(MODIFIER||3738|||GAPDH|retained_intron|CODING|ENST00000492719||T),DOWNSTREAM(MODIFIER||3177||335|GAPDH|protein_coding|CODING|ENST00000396861||T),DOWNSTREAM(MODIFIER||3222|||GAPDH|retained_intron|CODING|ENST00000474249||T),DOWNSTREAM(MODIFIER||3219|||GAPDH|retained_intron|CODING|ENST00000466588||T),DOWNSTREAM(MODIFIER||3197||335|GAPDH|protein_coding|CODING|ENST00000396859||T),DOWNSTREAM(MODIFIER||3199|||GAPDH|retained_intron|CODING|ENST00000466525||T),DOWNSTREAM(MODIFIER||3221||293|GAPDH|protein_coding|CODING|ENST00000396858||T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000472558|4|T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000471408|5|T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000488007|8|T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000396830|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6658066 Proband 49 C T . . Gene=IFFO1;MT=SNP;MM=CM;CADD=10.12;VMM=36.59;EFF=DOWNSTREAM(MODIFIER||3969|||RP5-940J5.8|antisense|NON_CODING|ENST00000499202||T),INTRON(MODIFIER||||563|IFFO1|protein_coding|CODING|ENST00000356896|5|T),INTRON(MODIFIER||||256|IFFO1|protein_coding|CODING|ENST00000436152|6|T),INTRON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000471408|1|T),INTRON(MODIFIER||||255|IFFO1|protein_coding|CODING|ENST00000465801|6|T),INTRON(MODIFIER||||562|IFFO1|protein_coding|CODING|ENST00000336604|5|T),INTRON(MODIFIER||||559|IFFO1|protein_coding|CODING|ENST00000396840|4|T),INTRON(MODIFIER||||264|IFFO1|nonsense_mediated_decay|CODING|ENST00000487279|5|T),INTRON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000488007|5|T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000472558|1|T),EXON(MODIFIER|||||IFFO1|retained_intron|CODING|ENST00000396830|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 72791725 Proband 49 G A . . Gene=TMEM104;MT=SNP;MM=CM;CADD=17.08;VMM=48.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R197Q|496|TMEM104|protein_coding|CODING|ENST00000335464|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R210Q|327|TMEM104|protein_coding|CODING|ENST00000417024|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R129Q|128|TMEM104|protein_coding|CODING|ENST00000578764|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R197Q|314|TMEM104|protein_coding|CODING|ENST00000582773|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R197Q|496|TMEM104|protein_coding|CODING|ENST00000582330|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 72791754 Proband 49 G A . . Gene=TMEM104;MT=SNP;MM=CM;CADD=24.1;VMM=48.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A207T|496|TMEM104|protein_coding|CODING|ENST00000335464|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A220T|327|TMEM104|protein_coding|CODING|ENST00000417024|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A207T|314|TMEM104|protein_coding|CODING|ENST00000582773|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A207T|496|TMEM104|protein_coding|CODING|ENST00000582330|8|A),DOWNSTREAM(MODIFIER||26||128|TMEM104|protein_coding|CODING|ENST00000578764||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48602214 Proband 49 A T . . Gene=COL7A1;MT=SNP;MM=CM;CADD=19.24;VMM=36.26;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||2944|COL7A1|protein_coding|CODING|ENST00000328333|117|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||COL7A1|processed_transcript|CODING|ENST00000470076|1|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||COL7A1|retained_intron|CODING|ENST00000465238|1|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||COL7A1|retained_intron|CODING|ENST00000487017|82|T),SPLICE_SITE_DONOR+INTRON(HIGH||||2912|COL7A1|protein_coding|CODING|ENST00000454817|116|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||COL7A1|retained_intron|CODING|ENST00000466591|2|T),UPSTREAM(MODIFIER||1008||112|UCN2|protein_coding|CODING|ENST00000273610||T),UPSTREAM(MODIFIER||3652||458|PFKFB4|protein_coding|CODING|ENST00000536104||T),UPSTREAM(MODIFIER||3609||317|PFKFB4|protein_coding|CODING|ENST00000452531||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2809|||PFKFB4|processed_transcript|CODING|ENST00000496767||T),UPSTREAM(MODIFIER||4927||128|PFKFB4|protein_coding|CODING|ENST00000422701||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2766|||PFKFB4|processed_transcript|CODING|ENST00000467176||T),DOWNSTREAM(MODIFIER||1759|||COL7A1|retained_intron|CODING|ENST00000474432||T),DOWNSTREAM(MODIFIER||2917|||COL7A1|retained_intron|CODING|ENST00000459756||T),DOWNSTREAM(MODIFIER||3383|||COL7A1|retained_intron|CODING|ENST00000467985||T),DOWNSTREAM(MODIFIER||4977||172|COL7A1|protein_coding|CODING|ENST00000422991||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48621180 Proband 49 C T . . Gene=COL7A1;MT=SNP;MM=CM;CADD=16.51;VMM=36.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1438I|2944|COL7A1|protein_coding|CODING|ENST00000328333|39|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V1438I|2912|COL7A1|protein_coding|CODING|ENST00000454817|39|T),UPSTREAM(MODIFIER||4770|||MIR711|miRNA|NON_CODING|ENST00000390201||T),EXON(MODIFIER|||||COL7A1|retained_intron|CODING|ENST00000487017|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48636559 Proband 49 G A . . Gene=UQCRC1;MT=SNP;MM=CM;CADD=12.84;VMM=32.99;EFF=UTR_3_PRIME(MODIFIER||2||480|UQCRC1|protein_coding|CODING|ENST00000203407|13|A),UTR_3_PRIME(MODIFIER||5231||121|UQCRC1|nonsense_mediated_decay|CODING|ENST00000415995|12|A),UPSTREAM(MODIFIER||3859||2944|COL7A1|protein_coding|CODING|ENST00000328333||A),UPSTREAM(MODIFIER||3966||2912|COL7A1|protein_coding|CODING|ENST00000454817||A),DOWNSTREAM(MODIFIER||992|||UQCRC1|retained_intron|CODING|ENST00000460105||A),DOWNSTREAM(MODIFIER||2280|||UQCRC1|retained_intron|CODING|ENST00000472438||A),DOWNSTREAM(MODIFIER||4437||68|UQCRC1|nonsense_mediated_decay|CODING|ENST00000412343||A),DOWNSTREAM(MODIFIER||4872|||UQCRC1|retained_intron|CODING|ENST00000467690||A),EXON(MODIFIER|||||UQCRC1|retained_intron|CODING|ENST00000471189|6|A),EXON(MODIFIER|||||UQCRC1|retained_intron|CODING|ENST00000480561|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 48643235 Proband 49 C A . . Gene=UQCRC1;MT=SNP;MM=CM;CADD=23.3;VMM=32.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A89S|480|UQCRC1|protein_coding|CODING|ENST00000203407|3|A),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggT|G43|121|UQCRC1|nonsense_mediated_decay|CODING|ENST00000415995|2|A),UTR_3_PRIME(MODIFIER||3418||68|UQCRC1|nonsense_mediated_decay|CODING|ENST00000412343|3|A),UPSTREAM(MODIFIER||4377|||UQCRC1|retained_intron|CODING|ENST00000471189||A),UPSTREAM(MODIFIER||4961|||UQCRC1|retained_intron|CODING|ENST00000480561||A),UPSTREAM(MODIFIER||2158|||UQCRC1|retained_intron|CODING|ENST00000460105||A),UPSTREAM(MODIFIER||1016|||UQCRC1|retained_intron|CODING|ENST00000472438||A),DOWNSTREAM(MODIFIER||3794|||UQCRC1|processed_transcript|CODING|ENST00000493806||A),INTRON(MODIFIER|||||UQCRC1|retained_intron|CODING|ENST00000463708|2|A),EXON(MODIFIER|||||UQCRC1|retained_intron|CODING|ENST00000467690|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 183508704 Proband 49 C T . . Gene=YEATS2;MT=SNP;MM=CM;CADD=14.86;VMM=45.22;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T1011|1422|YEATS2|protein_coding|CODING|ENST00000305135|21|T),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T196|218|YEATS2|protein_coding|CODING|ENST00000432781|4|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 183515744 Proband 49 C G . . Gene=YEATS2;MT=SNP;MM=CM;CADD=26.3;VMM=45.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P1044R|1422|YEATS2|protein_coding|CODING|ENST00000305135|22|G),UPSTREAM(MODIFIER||40|||YEATS2|retained_intron|CODING|ENST00000497765||G),UPSTREAM(MODIFIER||3021|||YEATS2|retained_intron|CODING|ENST00000472593||G),DOWNSTREAM(MODIFIER||4519|||AC131160.1|miRNA|NON_CODING|ENST00000401347||G),DOWNSTREAM(MODIFIER||4470||218|YEATS2|protein_coding|CODING|ENST00000432781||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 121436474 Proband 50 C T . . Gene=BAG3;MT=SNP;MM=DN;CADD=24.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P470S|575|BAG3|protein_coding|CODING|ENST00000369085|4|T),DOWNSTREAM(MODIFIER||255||324|BAG3|protein_coding|CODING|ENST00000450186||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 119305248 Proband 50 G A . . Gene=ADPRH;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G139S|357|ADPRH|protein_coding|CODING|ENST00000357003|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G139S|357|ADPRH|protein_coding|CODING|ENST00000478399|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G139S|357|ADPRH|protein_coding|CODING|ENST00000478927|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G139S|357|ADPRH|protein_coding|CODING|ENST00000465513|2|A),DOWNSTREAM(MODIFIER||38||124|ADPRH|protein_coding|CODING|ENST00000481816||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ADPRH|processed_transcript|CODING|ENST00000471850|2|A),EXON(MODIFIER|||||ADPRH|processed_transcript|CODING|ENST00000485496|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 179959750 Proband 50 A G . . Gene=CEP350;MT=SNP;MM=CM;CADD=26.6;VMM=101.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R77G|3117|CEP350|protein_coding|CODING|ENST00000367607|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R76G|129|CEP350|protein_coding|CODING|ENST00000357434|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||241|CEP350|protein_coding|CODING|ENST00000491495|3|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 179975648 Proband 50 C G . . Gene=CEP350;MT=SNP;MM=CM;CADD=27.1;VMM=101.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P398A|3117|CEP350|protein_coding|CODING|ENST00000367607|8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 2675627 Proband 50 G C . . Gene=CACNA1C;MT=SNP;MM=CM;CADD=23.9;VMM=43.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2209|CACNA1C|protein_coding|CODING|ENST00000399634|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K541N|2163|CACNA1C|protein_coding|CODING|ENST00000335762|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399655|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|1279|CACNA1C|protein_coding|CODING|ENST00000480911|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2173|CACNA1C|protein_coding|CODING|ENST00000327702|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2179|CACNA1C|protein_coding|CODING|ENST00000344100|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2186|CACNA1C|protein_coding|CODING|ENST00000347598|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2146|CACNA1C|protein_coding|CODING|ENST00000399591|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2146|CACNA1C|protein_coding|CODING|ENST00000399595|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399597|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399601|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2158|CACNA1C|protein_coding|CODING|ENST00000399606|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2157|CACNA1C|protein_coding|CODING|ENST00000399621|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2155|CACNA1C|protein_coding|CODING|ENST00000399629|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2157|CACNA1C|protein_coding|CODING|ENST00000399637|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2166|CACNA1C|protein_coding|CODING|ENST00000399638|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399641|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399644|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2144|CACNA1C|protein_coding|CODING|ENST00000399649|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2157|CACNA1C|protein_coding|CODING|ENST00000402845|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2138|CACNA1C|protein_coding|CODING|ENST00000399603|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2173|CACNA1C|protein_coding|CODING|ENST00000399617|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K516N|2209|CACNA1C|protein_coding|CODING|ENST00000406454|12|C),EXON(MODIFIER|||||CACNA1C|processed_transcript|CODING|ENST00000491104|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 2800220 Proband 50 A G . . Gene=CACNA1C;MT=SNP;MM=CM;CADD=15.65;VMM=43.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2162S|2209|CACNA1C|protein_coding|CODING|ENST00000399634|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2116S|2163|CACNA1C|protein_coding|CODING|ENST00000335762|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399655|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2126S|2173|CACNA1C|protein_coding|CODING|ENST00000327702|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2132S|2179|CACNA1C|protein_coding|CODING|ENST00000344100|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2139S|2186|CACNA1C|protein_coding|CODING|ENST00000347598|49|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2099S|2146|CACNA1C|protein_coding|CODING|ENST00000399591|46|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2099S|2146|CACNA1C|protein_coding|CODING|ENST00000399595|46|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399597|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399601|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2111S|2158|CACNA1C|protein_coding|CODING|ENST00000399606|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2110S|2157|CACNA1C|protein_coding|CODING|ENST00000399621|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2108S|2155|CACNA1C|protein_coding|CODING|ENST00000399629|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2110S|2157|CACNA1C|protein_coding|CODING|ENST00000399637|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2119S|2166|CACNA1C|protein_coding|CODING|ENST00000399638|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399641|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399644|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2097S|2144|CACNA1C|protein_coding|CODING|ENST00000399649|46|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2110S|2157|CACNA1C|protein_coding|CODING|ENST00000402845|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2091S|2138|CACNA1C|protein_coding|CODING|ENST00000399603|47|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2126S|2173|CACNA1C|protein_coding|CODING|ENST00000399617|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N2162S|2209|CACNA1C|protein_coding|CODING|ENST00000406454|48|G),INTRON(MODIFIER|||||CACNA1C-AS1|antisense|NON_CODING|ENST00000501371|1|G),INTRON(MODIFIER|||||CACNA1C-AS1|antisense|NON_CODING|ENST00000541673|1|G),EXON(MODIFIER|||||CACNA1C-AS1|antisense|NON_CODING|ENST00000544517|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31294996 Proband 50 C T . . Gene=TRPM1;MT=SNP;MM=CM;CADD=32;VMM=126.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1320K|1642|TRPM1|protein_coding|CODING|ENST00000542188|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1281K|1603|TRPM1|protein_coding|CODING|ENST00000397795|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1303K|1625|TRPM1|protein_coding|CODING|ENST00000256552|28|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1205K|1527|TRPM1|protein_coding|CODING|ENST00000558768|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1281K|1389|TRPM1|protein_coding|CODING|ENST00000558445|27|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E396K|504|TRPM1|protein_coding|CODING|ENST00000559177|8|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||60321||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|24|T),INTRON(MODIFIER|||||RP11-348B17.1|antisense|NON_CODING|ENST00000561299|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31352749 Proband 50 G T . . Gene=TRPM1;MT=SNP;MM=CM;CADD=26.6;VMM=126.2;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P438T|1642|TRPM1|protein_coding|CODING|ENST00000542188|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P399T|1603|TRPM1|protein_coding|CODING|ENST00000397795|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P421T|1625|TRPM1|protein_coding|CODING|ENST00000256552|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P323T|1527|TRPM1|protein_coding|CODING|ENST00000558768|8|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P399T|1389|TRPM1|protein_coding|CODING|ENST00000558445|10|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SPLICE_SITE_REGION(LOW||||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|8|T),UTR_3_PRIME(MODIFIER||2568||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|8|T),UTR_3_PRIME(MODIFIER||2568||300|TRPM1|nonsense_mediated_decay|CODING|ENST00000560658|10|T),DOWNSTREAM(MODIFIER||4486|||MIR211|miRNA|NON_CODING|ENST00000384969||T),INTRON(MODIFIER||||504|TRPM1|protein_coding|CODING|ENST00000559177|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||TRPM1|retained_intron|CODING|ENST00000558070|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55197534 Proband 50 C T . . Gene=EML6;MT=SNP;MM=CM;CADD=20.4;VMM=43.77;EFF=UTR_3_PRIME(MODIFIER||303||1958|EML6|protein_coding|CODING|ENST00000356458|41|T),UPSTREAM(MODIFIER||257|||EML6|processed_transcript|CODING|ENST00000466608||T),DOWNSTREAM(MODIFIER||1791||1192|RTN4|protein_coding|CODING|ENST00000337526||T),DOWNSTREAM(MODIFIER||2163|||EML6|processed_transcript|CODING|ENST00000472965||T),DOWNSTREAM(MODIFIER||66|||EML6|processed_transcript|CODING|ENST00000488611||T),DOWNSTREAM(MODIFIER||1791||199|RTN4|protein_coding|CODING|ENST00000394609||T),DOWNSTREAM(MODIFIER||1791||986|RTN4|protein_coding|CODING|ENST00000405240||T),DOWNSTREAM(MODIFIER||1791||986|RTN4|protein_coding|CODING|ENST00000357376||T),DOWNSTREAM(MODIFIER||1791||373|RTN4|protein_coding|CODING|ENST00000317610||T),DOWNSTREAM(MODIFIER||1791||392|RTN4|protein_coding|CODING|ENST00000357732||T),DOWNSTREAM(MODIFIER||1791||986|RTN4|protein_coding|CODING|ENST00000394611||T),DOWNSTREAM(MODIFIER||1791||986|RTN4|protein_coding|CODING|ENST00000404909||T),DOWNSTREAM(MODIFIER||2187|||RTN4|processed_transcript|CODING|ENST00000486085||T),DOWNSTREAM(MODIFIER||2398|||RTN4|processed_transcript|CODING|ENST00000491592||T),DOWNSTREAM(MODIFIER||2399|||RTN4|processed_transcript|CODING|ENST00000485749||T),DOWNSTREAM(MODIFIER||2416||960|RTN4|protein_coding|CODING|ENST00000354474||T),DOWNSTREAM(MODIFIER||2416||345|RTN4|protein_coding|CODING|ENST00000402434||T),DOWNSTREAM(MODIFIER||3115||202|RTN4|protein_coding|CODING|ENST00000438462||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||EML6|processed_transcript|CODING|ENST00000490828|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55197610 Proband 50 G T . . Gene=EML6;MT=SNP;MM=CM;CADD=18.26;VMM=43.77;EFF=UTR_3_PRIME(MODIFIER||379||1958|EML6|protein_coding|CODING|ENST00000356458|41|T),UPSTREAM(MODIFIER||181|||EML6|processed_transcript|CODING|ENST00000466608||T),DOWNSTREAM(MODIFIER||1715||1192|RTN4|protein_coding|CODING|ENST00000337526||T),DOWNSTREAM(MODIFIER||2239|||EML6|processed_transcript|CODING|ENST00000472965||T),DOWNSTREAM(MODIFIER||142|||EML6|processed_transcript|CODING|ENST00000488611||T),DOWNSTREAM(MODIFIER||1715||199|RTN4|protein_coding|CODING|ENST00000394609||T),DOWNSTREAM(MODIFIER||1715||986|RTN4|protein_coding|CODING|ENST00000405240||T),DOWNSTREAM(MODIFIER||1715||986|RTN4|protein_coding|CODING|ENST00000357376||T),DOWNSTREAM(MODIFIER||1715||373|RTN4|protein_coding|CODING|ENST00000317610||T),DOWNSTREAM(MODIFIER||1715||392|RTN4|protein_coding|CODING|ENST00000357732||T),DOWNSTREAM(MODIFIER||1715||986|RTN4|protein_coding|CODING|ENST00000394611||T),DOWNSTREAM(MODIFIER||1715||986|RTN4|protein_coding|CODING|ENST00000404909||T),DOWNSTREAM(MODIFIER||2111|||RTN4|processed_transcript|CODING|ENST00000486085||T),DOWNSTREAM(MODIFIER||2322|||RTN4|processed_transcript|CODING|ENST00000491592||T),DOWNSTREAM(MODIFIER||2323|||RTN4|processed_transcript|CODING|ENST00000485749||T),DOWNSTREAM(MODIFIER||2340||960|RTN4|protein_coding|CODING|ENST00000354474||T),DOWNSTREAM(MODIFIER||2340||345|RTN4|protein_coding|CODING|ENST00000402434||T),DOWNSTREAM(MODIFIER||3039||202|RTN4|protein_coding|CODING|ENST00000438462||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||EML6|processed_transcript|CODING|ENST00000490828|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 31424715 Proband 50 G A . . Gene=DROSHA;MT=SNP;MM=CM;CADD=19.84;VMM=30.01;EFF=UPSTREAM(MODIFIER||1287|||DROSHA|retained_intron|CODING|ENST00000511778||A),INTRON(MODIFIER||||1374|DROSHA|protein_coding|CODING|ENST00000344624|24|A),INTRON(MODIFIER||||1374|DROSHA|protein_coding|CODING|ENST00000511367|26|A),INTRON(MODIFIER||||1337|DROSHA|protein_coding|CODING|ENST00000442743|23|A),INTRON(MODIFIER||||1337|DROSHA|protein_coding|CODING|ENST00000513349|26|A),INTRON(MODIFIER|||||DROSHA|retained_intron|CODING|ENST00000504133|4|A),INTRON(MODIFIER|||||DROSHA|processed_transcript|CODING|ENST00000510178|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 31435971 Proband 50 G A . . Gene=DROSHA;MT=SNP;MM=CM;CADD=13.67;VMM=30.01;EFF=SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S981|1374|DROSHA|protein_coding|CODING|ENST00000344624|22|A),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S981|1374|DROSHA|protein_coding|CODING|ENST00000511367|24|A),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S944|1337|DROSHA|protein_coding|CODING|ENST00000442743|21|A),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S944|1337|DROSHA|protein_coding|CODING|ENST00000513349|24|A),SPLICE_SITE_REGION+EXON(LOW|||||DROSHA|retained_intron|CODING|ENST00000504133|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56392429 Proband 50 C T . . Gene=DST;MT=SNP;MM=CM;CADD=11.01;VMM=37.51;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A5897|7750|DST|protein_coding|CODING|ENST00000370754|68|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3305|5171|DST|protein_coding|CODING|ENST00000244364|49|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A5393|7246|DST|protein_coding|CODING|ENST00000446842|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A5719|7572|DST|protein_coding|CODING|ENST00000370769|65|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3631|5457|DST|protein_coding|CODING|ENST00000421834|59|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3522|5375|DST|protein_coding|CODING|ENST00000370788|58|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A5608|7461|DST|protein_coding|CODING|ENST00000361203|63|T),UTR_3_PRIME(MODIFIER||45381||4200|DST|protein_coding|CODING|ENST00000312431|64|T),EXON(MODIFIER|||||DST|processed_transcript|CODING|ENST00000340834|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56501428 Proband 50 G A . . Gene=DST;MT=SNP;MM=CM;CADD=32;VMM=37.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T963M|7750|DST|protein_coding|CODING|ENST00000370754|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T459M|5171|DST|protein_coding|CODING|ENST00000244364|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T459M|7246|DST|protein_coding|CODING|ENST00000446842|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T785M|4200|DST|protein_coding|CODING|ENST00000312431|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T785M|7572|DST|protein_coding|CODING|ENST00000370769|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T785M|5457|DST|protein_coding|CODING|ENST00000421834|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T785M|5375|DST|protein_coding|CODING|ENST00000370788|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T785M|7461|DST|protein_coding|CODING|ENST00000361203|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T459M|3059|DST|protein_coding|CODING|ENST00000439203|9|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T825M|1478|DST|protein_coding|CODING|ENST00000520645|20|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T459M|2649|DST|protein_coding|CODING|ENST00000370765|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T459M|1143|DST|protein_coding|CODING|ENST00000518935|9|A),DOWNSTREAM(MODIFIER||2286|||DST|retained_intron|CODING|ENST00000523967||A),DOWNSTREAM(MODIFIER||2306|||DST|retained_intron|CODING|ENST00000521104||A),DOWNSTREAM(MODIFIER||3837||688|DST|protein_coding|CODING|ENST00000449297||A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 42000666 Proband 50 T C . . Gene=GLI3;MT=SNP;MM=CM;CADD=11.66;VMM=33.4;EFF=UTR_3_PRIME(MODIFIER||3262||1580|GLI3|protein_coding|CODING|ENST00000395925|15|C),DOWNSTREAM(MODIFIER||3014|||GLI3|processed_transcript|CODING|ENST00000479210||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 42063171 Proband 50 C G . . Gene=GLI3;MT=SNP;MM=CM;CADD=26.5;VMM=33.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G465R|1580|GLI3|protein_coding|CODING|ENST00000395925|10|G),EXON(MODIFIER|||||GLI3|processed_transcript|CODING|ENST00000479210|9|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 139494275 Proband 51 T A . . Gene=PURA;MT=SNP;MM=DN;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aAc|I170N|322|PURA|protein_coding|CODING|ENST00000331327|1|A),DOWNSTREAM(MODIFIER||377|||PURA|processed_transcript|CODING|ENST00000505703||A),DOWNSTREAM(MODIFIER||430|||PURA|processed_transcript|CODING|ENST00000502351||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 168260481 Proband 51 C T . . Gene=TBX19;MT=SNP;MM=CM;CADD=25.4;VMM=48.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T96M|448|TBX19|protein_coding|CODING|ENST00000367821|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T28M|317|TBX19|protein_coding|CODING|ENST00000431969|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 168281934 Proband 51 C CT . . Gene=TBX19;MT=INDEL;MM=CM;CADD=16.25;VMM=48.79;EFF=INTRON(MODIFIER||||448|TBX19|protein_coding|CODING|ENST00000367821|7|CT),INTRON(MODIFIER||||317|TBX19|protein_coding|CODING|ENST00000431969|5|CT|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||280|TBX19|protein_coding|CODING|ENST00000441464|4|CT|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||TBX19|processed_transcript|CODING|ENST00000465440|1|CT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 21049415 Proband 51 T C . . Gene=DNAH3;MT=SNP;MM=CM;CADD=14.23;VMM=40.63;EFF=INTRON(MODIFIER||||4116|DNAH3|protein_coding|CODING|ENST00000261383|33|C),INTRON(MODIFIER||||1887|DNAH3|protein_coding|CODING|ENST00000415178|33|C),INTRON(MODIFIER|||||DNAH3|retained_intron|CODING|ENST00000572640|10|C),INTRON(MODIFIER|||||DNAH3|retained_intron|CODING|ENST00000572931|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 21098323 Proband 51 C G . . Gene=DNAH3;MT=SNP;MM=CM;CADD=25.1;VMM=40.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agC|R908S|4116|DNAH3|protein_coding|CODING|ENST00000261383|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agC|R908S|1887|DNAH3|protein_coding|CODING|ENST00000415178|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 48547481 Proband 51 C T . . Gene=ABCA13;MT=SNP;MM=CM;CADD=35;VMM=127.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R4454C|5058|ABCA13|protein_coding|CODING|ENST00000435803|50|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R719C|1191|ABCA13|nonsense_mediated_decay|CODING|ENST00000453246|16|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R227C|831|ABCA13|protein_coding|CODING|ENST00000411975|7|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R184C|788|ABCA13|protein_coding|CODING|ENST00000544596|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R5C|153|ABCA13|protein_coding|CODING|ENST00000435451|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 48547511 Proband 51 C A . . Gene=ABCA13;MT=SNP;MM=CM;CADD=24.6;VMM=127.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L4464M|5058|ABCA13|protein_coding|CODING|ENST00000435803|50|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L729M|1191|ABCA13|nonsense_mediated_decay|CODING|ENST00000453246|16|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L237M|831|ABCA13|protein_coding|CODING|ENST00000411975|7|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L194M|788|ABCA13|protein_coding|CODING|ENST00000544596|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L15M|153|ABCA13|protein_coding|CODING|ENST00000435451|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100148956 Proband 51 A G . . Gene=VPS13B;MT=SNP;MM=CM;CADD=23.3;VMM=87.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T543A|4022|VPS13B|protein_coding|CODING|ENST00000358544|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T543A|863|VPS13B|protein_coding|CODING|ENST00000355155|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T543A|1427|VPS13B|nonsense_mediated_decay|CODING|ENST00000496144|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T543A|1427|VPS13B|protein_coding|CODING|ENST00000395996|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Gca|T543A|3997|VPS13B|protein_coding|CODING|ENST00000357162|12|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100874154 Proband 51 G A . . Gene=VPS13B;MT=SNP;MM=CM;CADD=27.8;VMM=87.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3757Q|4022|VPS13B|protein_coding|CODING|ENST00000358544|58|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3732Q|3997|VPS13B|protein_coding|CODING|ENST00000357162|58|A),UTR_3_PRIME(MODIFIER||354097||1427|VPS13B|protein_coding|CODING|ENST00000395996|59|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 133880437 Proband 51 G A . . Gene=TG;MT=SNP;MM=CM;CADD=24.3;VMM=75.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V49M|2768|TG|protein_coding|CODING|ENST00000220616|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V49M|59|TG|nonsense_mediated_decay|CODING|ENST00000523901|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V49M|2711|TG|protein_coding|CODING|ENST00000377869|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 133881996 Proband 51 G A . . Gene=TG;MT=SNP;MM=CM;CADD=23.7;VMM=75.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G67S|2768|TG|protein_coding|CODING|ENST00000220616|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G67S|2711|TG|protein_coding|CODING|ENST00000377869|3|A),UTR_3_PRIME(MODIFIER||1524||59|TG|nonsense_mediated_decay|CODING|ENST00000523901|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18828486 Proband 52 C G . . Gene=CACNB2;MT=SNP;MM=CM;CADD=24.4;VMM=40.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R606G|660|CACNB2|protein_coding|CODING|ENST00000324631|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R582G|636|CACNB2|protein_coding|CODING|ENST00000352115|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R356G|410|CACNB2|protein_coding|CODING|ENST00000377328|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R578G|632|CACNB2|protein_coding|CODING|ENST00000282343|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R554G|608|CACNB2|protein_coding|CODING|ENST00000377331|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R551G|605|CACNB2|protein_coding|CODING|ENST00000396576|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R513G|567|CACNB2|protein_coding|CODING|ENST00000377319|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R552G|606|CACNB2|protein_coding|CODING|ENST00000377329|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R558G|612|CACNB2|protein_coding|CODING|ENST00000377315|13|G),DOWNSTREAM(MODIFIER||2029|||RP11-499P20.2|antisense|NON_CODING|ENST00000436485||G),INTRON(MODIFIER|||||RP11-499P20.2|antisense|NON_CODING|ENST00000425669|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18829895 Proband 52 A G . . Gene=CACNB2;MT=SNP;MM=CM;CADD=14.61;VMM=40.73;EFF=UTR_3_PRIME(MODIFIER||1242||660|CACNB2|protein_coding|CODING|ENST00000324631|14|G),UTR_3_PRIME(MODIFIER||1242||632|CACNB2|protein_coding|CODING|ENST00000282343|14|G),UTR_3_PRIME(MODIFIER||1242||605|CACNB2|protein_coding|CODING|ENST00000396576|13|G),UTR_3_PRIME(MODIFIER||1242||567|CACNB2|protein_coding|CODING|ENST00000377319|13|G),UTR_3_PRIME(MODIFIER||1242||606|CACNB2|protein_coding|CODING|ENST00000377329|13|G),UTR_3_PRIME(MODIFIER||1242||612|CACNB2|protein_coding|CODING|ENST00000377315|13|G),DOWNSTREAM(MODIFIER||4595||469|NSUN6|protein_coding|CODING|ENST00000377304||G),DOWNSTREAM(MODIFIER||1242||636|CACNB2|protein_coding|CODING|ENST00000352115||G),DOWNSTREAM(MODIFIER||1242||410|CACNB2|protein_coding|CODING|ENST00000377328||G),DOWNSTREAM(MODIFIER||1242||608|CACNB2|protein_coding|CODING|ENST00000377331||G),DOWNSTREAM(MODIFIER||620|||RP11-499P20.2|antisense|NON_CODING|ENST00000436485||G),INTRON(MODIFIER|||||RP11-499P20.2|antisense|NON_CODING|ENST00000425669|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 101347290 Proband 52 C G . . Gene=RTL1;MT=SNP;MM=CM;CADD=18.78;VMM=32.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cCc|R1279P|1358|RTL1|protein_coding|CODING|ENST00000534062|1|G),UPSTREAM(MODIFIER||54|||MIR431|miRNA|NON_CODING|ENST00000385266||G),UPSTREAM(MODIFIER||930|||MIR433|miRNA|NON_CODING|ENST00000384837||G),UPSTREAM(MODIFIER||2026|||MIR127|miRNA|NON_CODING|ENST00000384876||G),UPSTREAM(MODIFIER||3530|||MIR432|miRNA|NON_CODING|ENST00000606207||G),UPSTREAM(MODIFIER||3744|||MIR136|miRNA|NON_CODING|ENST00000385207||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 101349931 Proband 52 C T . . Gene=RTL1;MT=SNP;MM=CM;CADD=15.31;VMM=32.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E399K|1358|RTL1|protein_coding|CODING|ENST00000534062|1|T),UPSTREAM(MODIFIER||889|||MIR432|miRNA|NON_CODING|ENST00000606207||T),UPSTREAM(MODIFIER||1103|||MIR136|miRNA|NON_CODING|ENST00000385207||T),DOWNSTREAM(MODIFIER||2474|||MIR431|miRNA|NON_CODING|ENST00000385266||T),DOWNSTREAM(MODIFIER||1588|||MIR433|miRNA|NON_CODING|ENST00000384837||T),DOWNSTREAM(MODIFIER||519|||MIR127|miRNA|NON_CODING|ENST00000384876||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 34011306 Proband 52 G C . . Gene=SYNJ1;MT=SNP;MM=CM;CADD=16.08;VMM=30.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P1315R|1612|SYNJ1|protein_coding|CODING|ENST00000433931|31|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P1260R|1295|SYNJ1|protein_coding|CODING|ENST00000357345|30|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P1229R|1526|SYNJ1|protein_coding|CODING|ENST00000382491|27|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P151R|186|SYNJ1|protein_coding|CODING|ENST00000438952|6|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P1315R|1350|SYNJ1|protein_coding|CODING|ENST00000382499|31|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P1276R|1573|SYNJ1|protein_coding|CODING|ENST00000322229|30|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P96R|130|SYNJ1|protein_coding|CODING|ENST00000418301|3|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||18||120|SYNJ1|protein_coding|CODING|ENST00000416083||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 34045983 Proband 52 C T . . Gene=SYNJ1;MT=SNP;MM=CM;CADD=16.92;VMM=30.43;EFF=INTRON(MODIFIER||||1612|SYNJ1|protein_coding|CODING|ENST00000433931|13|T),INTRON(MODIFIER||||1295|SYNJ1|protein_coding|CODING|ENST00000357345|13|T),INTRON(MODIFIER||||1526|SYNJ1|protein_coding|CODING|ENST00000382491|12|T),INTRON(MODIFIER||||1350|SYNJ1|protein_coding|CODING|ENST00000382499|13|T),INTRON(MODIFIER||||1573|SYNJ1|protein_coding|CODING|ENST00000322229|12|T),INTRON(MODIFIER||||694|SYNJ1|protein_coding|CODING|ENST00000429236|12|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 89329538 Proband 52 T A . . Gene=HERC6;MT=SNP;MM=CM;CADD=11.03;VMM=36.42;EFF=DOWNSTREAM(MODIFIER||3361|||HERC6|retained_intron|CODING|ENST00000515365||A),INTRON(MODIFIER||||1022|HERC6|protein_coding|CODING|ENST00000264346|10|A),INTRON(MODIFIER||||986|HERC6|protein_coding|CODING|ENST00000380265|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 89352381 Proband 52 T C . . Gene=HERC6;MT=SNP;MM=CM;CADD=31;VMM=36.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F725S|1022|HERC6|protein_coding|CODING|ENST00000264346|17|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F689S|986|HERC6|protein_coding|CODING|ENST00000380265|16|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 44269119 Proband 52 G T . . Gene=AARS2;MT=SNP;MM=CM;CADD=46;VMM=301.45;EFF=STOP_GAINED+SPLICE_SITE_REGION(HIGH|NONSENSE|tCa/tAa|S894*|985|AARS2|protein_coding|CODING|ENST00000244571|20|T),SPLICE_SITE_REGION+EXON(LOW|||||AARS2|processed_transcript|CODING|ENST00000491573|1|T),UPSTREAM(MODIFIER||3694||501|TCTE1|protein_coding|CODING|ENST00000371505||T),UPSTREAM(MODIFIER||3661||198|TCTE1|protein_coding|CODING|ENST00000371503||T),INTRON(MODIFIER||||134|RP11-444E17.6|nonsense_mediated_decay|CODING|ENST00000505802|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||222|TMEM151B|protein_coding|CODING|ENST00000438774|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 44278885 Proband 52 G A . . Gene=AARS2;MT=SNP;MM=CM;CADD=34;VMM=301.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R199C|985|AARS2|protein_coding|CODING|ENST00000244571|4|A),DOWNSTREAM(MODIFIER||3642||222|TMEM151B|protein_coding|CODING|ENST00000438774||A),INTRON(MODIFIER||||134|RP11-444E17.6|nonsense_mediated_decay|CODING|ENST00000505802|3|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 16464805 Proband 53 C T . . Gene=EPHA2;MT=SNP;MM=CM;CADD=34;VMM=36.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R315Q|976|EPHA2|protein_coding|CODING|ENST00000358432|4|T),UPSTREAM(MODIFIER||4748|||EPHA2|processed_transcript|CODING|ENST00000462805||T),EXON(MODIFIER|||||EPHA2|processed_transcript|CODING|ENST00000480202|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 16477467 Proband 53 G A . . Gene=EPHA2;MT=SNP;MM=CM;CADD=10.28;VMM=36.33;EFF=UPSTREAM(MODIFIER||4239|||RP11-276H7.2|antisense|NON_CODING|ENST00000424774||A),UPSTREAM(MODIFIER||4522|||EPHA2|processed_transcript|CODING|ENST00000480202||A),INTRON(MODIFIER||||976|EPHA2|protein_coding|CODING|ENST00000358432|1|A),INTRON(MODIFIER|||||EPHA2|processed_transcript|CODING|ENST00000461614|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 157131751 Proband 53 C T . . Gene=VEPH1;MT=SNP;MM=CM;CADD=16.13;VMM=44.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M275I|833|VEPH1|protein_coding|CODING|ENST00000362010|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M275I|788|VEPH1|protein_coding|CODING|ENST00000543418|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M275I|788|VEPH1|protein_coding|CODING|ENST00000392833|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M275I|833|VEPH1|protein_coding|CODING|ENST00000392832|6|T),EXON(MODIFIER|||||VEPH1|processed_transcript|CODING|ENST00000482685|3|T),EXON(MODIFIER|||||VEPH1|processed_transcript|CODING|ENST00000469007|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 157188170 Proband 53 G A . . Gene=VEPH1;MT=SNP;MM=CM;CADD=23.7;VMM=44.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|833|VEPH1|protein_coding|CODING|ENST00000362010|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|788|VEPH1|protein_coding|CODING|ENST00000543418|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|788|VEPH1|protein_coding|CODING|ENST00000392833|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|833|VEPH1|protein_coding|CODING|ENST00000392832|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|213|VEPH1|protein_coding|CODING|ENST00000494677|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|177|VEPH1|protein_coding|CODING|ENST00000537559|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|213|VEPH1|protein_coding|CODING|ENST00000468233|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P96L|164|VEPH1|protein_coding|CODING|ENST00000487753|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||50||119|VEPH1|protein_coding|CODING|ENST00000479987|2|A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||38||69|VEPH1|nonsense_mediated_decay|CODING|ENST00000473907||A),DOWNSTREAM(MODIFIER||71||52|VEPH1|nonsense_mediated_decay|CODING|ENST00000475050||A),DOWNSTREAM(MODIFIER||99||61|VEPH1|protein_coding|CODING|ENST00000461299||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||121||54|VEPH1|protein_coding|CODING|ENST00000489602||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||VEPH1|processed_transcript|CODING|ENST00000490235|1|A),EXON(MODIFIER|||||VEPH1|retained_intron|CODING|ENST00000482434|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195490309 Proband 53 C T . . Gene=MUC4;MT=SNP;MM=CM;CADD=21.9;VMM=54.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V4750I|5412|MUC4|protein_coding|CODING|ENST00000463781|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V514I|1176|MUC4|protein_coding|CODING|ENST00000346145|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V463I|1125|MUC4|protein_coding|CODING|ENST00000349607|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V4750I|5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V4698I|5360|MUC4|protein_coding|CODING|ENST00000475231|11|T),UTR_3_PRIME(MODIFIER||6897||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466|10|T),UTR_3_PRIME(MODIFIER||6897||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251|11|T),UTR_3_PRIME(MODIFIER||6897||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407|11|T),UTR_3_PRIME(MODIFIER||6897||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455|10|T),UTR_3_PRIME(MODIFIER||7442||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861|12|T),UTR_3_PRIME(MODIFIER||3282||4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|11|T),UTR_3_PRIME(MODIFIER||6897||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|12|T),UTR_3_PRIME(MODIFIER||3248||4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|11|T),UTR_3_PRIME(MODIFIER||6897||4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|12|T),UTR_3_PRIME(MODIFIER||3282||4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|12|T),UTR_3_PRIME(MODIFIER||6897||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|12|T),UTR_3_PRIME(MODIFIER||3282||4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|11|T),DOWNSTREAM(MODIFIER||3224|||MUC4|processed_transcript|CODING|ENST00000486425||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195509078 Proband 53 C T . . Gene=MUC4;MT=SNP;MM=CM;CADD=20.4;VMM=54.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|5412|MUC4|protein_coding|CODING|ENST00000463781|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|5360|MUC4|protein_coding|CODING|ENST00000475231|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3125N|4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|2|T),UPSTREAM(MODIFIER||3397||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466||T),UPSTREAM(MODIFIER||3397||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251||T),UPSTREAM(MODIFIER||3397||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407||T),UPSTREAM(MODIFIER||3397||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455||T),UPSTREAM(MODIFIER||3397||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861||T),INTRON(MODIFIER||||1176|MUC4|protein_coding|CODING|ENST00000346145|1|T),INTRON(MODIFIER||||1125|MUC4|protein_coding|CODING|ENST00000349607|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 45008895 Proband 54 A C . . Gene=TSC22D1;MT=SNP;MM=DN;CADD=26.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L1030R|1073|TSC22D1|protein_coding|CODING|ENST00000458659|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L101R|144|TSC22D1|protein_coding|CODING|ENST00000261489|3|C),UPSTREAM(MODIFIER||2448|||RP11-71C5.2|processed_transcript|NON_CODING|ENST00000426579||C),DOWNSTREAM(MODIFIER||1745||40|TSC22D1|protein_coding|CODING|ENST00000472477||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||570|TSC22D1|protein_coding|CODING|ENST00000501704|1|C),EXON(MODIFIER|||||TSC22D1|processed_transcript|CODING|ENST00000496314|2|C),EXON(MODIFIER|||||TSC22D1|processed_transcript|CODING|ENST00000487881|3|C),EXON(MODIFIER|||||TSC22D1|retained_intron|CODING|ENST00000496838|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58294280 Proband 54 C A . . Gene=LPXN;MT=SNP;MM=CM;CADD=9.012;VMM=30.44;EFF=DOWNSTREAM(MODIFIER||64||391|LPXN|protein_coding|CODING|ENST00000528954||A),DOWNSTREAM(MODIFIER||64||106|LPXN|nonsense_mediated_decay|CODING|ENST00000530561||A),DOWNSTREAM(MODIFIER||64||386|LPXN|protein_coding|CODING|ENST00000395074||A),DOWNSTREAM(MODIFIER||232||366|LPXN|protein_coding|CODING|ENST00000528489||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58295115 Proband 54 G A . . Gene=LPXN;MT=SNP;MM=CM;CADD=34;VMM=30.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R330W|391|LPXN|protein_coding|CODING|ENST00000528954|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R325W|386|LPXN|protein_coding|CODING|ENST00000395074|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R305W|366|LPXN|protein_coding|CODING|ENST00000528489|8|A),UTR_3_PRIME(MODIFIER||26501||106|LPXN|nonsense_mediated_decay|CODING|ENST00000530561|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118403706 Proband 54 G A . . Gene=TMEM25;MT=SNP;MM=CM;CADD=24.6;VMM=52.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|381|TMEM25|protein_coding|CODING|ENST00000533102|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|322|TMEM25|protein_coding|CODING|ENST00000411589|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|322|TMEM25|protein_coding|CODING|ENST00000359862|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|306|TMEM25|protein_coding|CODING|ENST00000442938|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|351|TMEM25|protein_coding|CODING|ENST00000354284|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A121T|169|TMEM25|protein_coding|CODING|ENST00000533137|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A36T|192|TMEM25|protein_coding|CODING|ENST00000526973|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A49T|218|TMEM25|protein_coding|CODING|ENST00000354064|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|366|TMEM25|protein_coding|CODING|ENST00000313236|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A153T|322|TMEM25|protein_coding|CODING|ENST00000524725|3|A),UTR_3_PRIME(MODIFIER||815||49|TMEM25|nonsense_mediated_decay|CODING|ENST00000525118|4|A),UTR_3_PRIME(MODIFIER||538||37|TMEM25|nonsense_mediated_decay|CODING|ENST00000534181|4|A),UPSTREAM(MODIFIER||2216|||RP11-770J1.3|antisense|NON_CODING|ENST00000554407||A),UPSTREAM(MODIFIER||2414|||RP11-770J1.3|antisense|NON_CODING|ENST00000532597||A),UPSTREAM(MODIFIER||2421|||RP11-770J1.3|antisense|NON_CODING|ENST00000525992||A),UPSTREAM(MODIFIER||2422|||RP11-770J1.3|antisense|NON_CODING|ENST00000528578||A),UPSTREAM(MODIFIER||1897|||RP11-770J1.3|antisense|NON_CODING|ENST00000556583||A),UPSTREAM(MODIFIER||41||199|TMEM25|protein_coding|CODING|ENST00000526853||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1794||189|TTC36|protein_coding|CODING|ENST00000302783||A),DOWNSTREAM(MODIFIER||1794||48|TTC36|nonsense_mediated_decay|CODING|ENST00000528570||A),DOWNSTREAM(MODIFIER||1794||48|TTC36|nonsense_mediated_decay|CODING|ENST00000533501||A),DOWNSTREAM(MODIFIER||1794||130|TTC36|protein_coding|CODING|ENST00000539546||A),DOWNSTREAM(MODIFIER||621|||TMEM25|retained_intron|CODING|ENST00000526941||A),DOWNSTREAM(MODIFIER||681|||TMEM25|retained_intron|CODING|ENST00000527785||A),DOWNSTREAM(MODIFIER||560|||TMEM25|retained_intron|CODING|ENST00000529176||A),DOWNSTREAM(MODIFIER||286|||TMEM25|processed_transcript|CODING|ENST00000530423||A),DOWNSTREAM(MODIFIER||132|||TMEM25|retained_intron|CODING|ENST00000525298||A),DOWNSTREAM(MODIFIER||695||39|TMEM25|protein_coding|CODING|ENST00000527267||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||42||137|TMEM25|protein_coding|CODING|ENST00000533689||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1006|||TMEM25|processed_transcript|CODING|ENST00000525129||A),INTRON(MODIFIER||||166|TMEM25|protein_coding|CODING|ENST00000528373|3|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||269|TMEM25|protein_coding|CODING|ENST00000544878|3|A),INTRON(MODIFIER|||||TMEM25|processed_transcript|CODING|ENST00000533587|3|A),INTRON(MODIFIER||||167|TMEM25|protein_coding|CODING|ENST00000532762|3|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||TMEM25|processed_transcript|CODING|ENST00000529001|4|A),EXON(MODIFIER|||||TMEM25|retained_intron|CODING|ENST00000533627|3|A),EXON(MODIFIER|||||TMEM25|retained_intron|CODING|ENST00000524522|2|A),EXON(MODIFIER|||||TMEM25|processed_transcript|CODING|ENST00000528934|4|A),EXON(MODIFIER|||||TMEM25|processed_transcript|CODING|ENST00000532749|4|A),EXON(MODIFIER|||||TMEM25|retained_intron|CODING|ENST00000531494|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118404747 Proband 54 C A . . Gene=TMEM25;MT=SNP;MM=CM;CADD=17.73;VMM=52.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D280E|381|TMEM25|protein_coding|CODING|ENST00000533102|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D236E|322|TMEM25|protein_coding|CODING|ENST00000411589|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D236E|322|TMEM25|protein_coding|CODING|ENST00000359862|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D236E|306|TMEM25|protein_coding|CODING|ENST00000442938|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D183E|269|TMEM25|protein_coding|CODING|ENST00000544878|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D280E|351|TMEM25|protein_coding|CODING|ENST00000354284|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D139E|167|TMEM25|protein_coding|CODING|ENST00000532762|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D119E|192|TMEM25|protein_coding|CODING|ENST00000526973|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D132E|218|TMEM25|protein_coding|CODING|ENST00000354064|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D280E|366|TMEM25|protein_coding|CODING|ENST00000313236|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D236E|322|TMEM25|protein_coding|CODING|ENST00000524725|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D114E|199|TMEM25|protein_coding|CODING|ENST00000526853|4|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3257|||RP11-770J1.3|antisense|NON_CODING|ENST00000554407||A),UPSTREAM(MODIFIER||3455|||RP11-770J1.3|antisense|NON_CODING|ENST00000532597||A),UPSTREAM(MODIFIER||3462|||RP11-770J1.3|antisense|NON_CODING|ENST00000525992||A),UPSTREAM(MODIFIER||3463|||RP11-770J1.3|antisense|NON_CODING|ENST00000528578||A),UPSTREAM(MODIFIER||2938|||RP11-770J1.3|antisense|NON_CODING|ENST00000556583||A),DOWNSTREAM(MODIFIER||2835||189|TTC36|protein_coding|CODING|ENST00000302783||A),DOWNSTREAM(MODIFIER||2835||48|TTC36|nonsense_mediated_decay|CODING|ENST00000528570||A),DOWNSTREAM(MODIFIER||2835||48|TTC36|nonsense_mediated_decay|CODING|ENST00000533501||A),DOWNSTREAM(MODIFIER||2835||130|TTC36|protein_coding|CODING|ENST00000539546||A),DOWNSTREAM(MODIFIER||1662|||TMEM25|retained_intron|CODING|ENST00000526941||A),DOWNSTREAM(MODIFIER||1722|||TMEM25|retained_intron|CODING|ENST00000527785||A),DOWNSTREAM(MODIFIER||1025||49|TMEM25|nonsense_mediated_decay|CODING|ENST00000525118||A),DOWNSTREAM(MODIFIER||507||37|TMEM25|nonsense_mediated_decay|CODING|ENST00000534181||A),DOWNSTREAM(MODIFIER||492||166|TMEM25|protein_coding|CODING|ENST00000528373||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1601|||TMEM25|retained_intron|CODING|ENST00000529176||A),DOWNSTREAM(MODIFIER||1327|||TMEM25|processed_transcript|CODING|ENST00000530423||A),DOWNSTREAM(MODIFIER||892||169|TMEM25|protein_coding|CODING|ENST00000533137||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||824|||TMEM25|processed_transcript|CODING|ENST00000533587||A),DOWNSTREAM(MODIFIER||410|||TMEM25|processed_transcript|CODING|ENST00000529001||A),DOWNSTREAM(MODIFIER||1173|||TMEM25|retained_intron|CODING|ENST00000525298||A),DOWNSTREAM(MODIFIER||555|||TMEM25|processed_transcript|CODING|ENST00000528934||A),DOWNSTREAM(MODIFIER||1736||39|TMEM25|protein_coding|CODING|ENST00000527267||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||999|||TMEM25|processed_transcript|CODING|ENST00000532749||A),DOWNSTREAM(MODIFIER||1083||137|TMEM25|protein_coding|CODING|ENST00000533689||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2047|||TMEM25|processed_transcript|CODING|ENST00000525129||A),DOWNSTREAM(MODIFIER||513|||TMEM25|retained_intron|CODING|ENST00000531494||A),EXON(MODIFIER|||||TMEM25|retained_intron|CODING|ENST00000533627|4|A),EXON(MODIFIER|||||TMEM25|retained_intron|CODING|ENST00000524522|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 94844947 Proband 54 C T . . Gene=SERPINA1;MT=SNP;MM=CM;CADD=26;VMM=34.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000355814|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000440909|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000437397|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000448921|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000393087|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000393088|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000404814|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E366K|418|SERPINA1|protein_coding|CODING|ENST00000449399|6|T),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||418|SERPINA1|protein_coding|CODING||5|T),UTR_3_PRIME(MODIFIER||2257||306|SERPINA1|nonsense_mediated_decay|CODING|ENST00000489769|4|T),DOWNSTREAM(MODIFIER||503||359|SERPINA1|protein_coding|CODING|ENST00000402629||T),DOWNSTREAM(MODIFIER||4053||104|SERPINA1|protein_coding|CODING|ENST00000554720||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4159||155|SERPINA1|protein_coding|CODING|ENST00000556091||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4194||143|SERPINA1|protein_coding|CODING|ENST00000557492||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4277||116|SERPINA1|protein_coding|CODING|ENST00000556955||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4350||91|SERPINA1|protein_coding|CODING|ENST00000553327||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4561||21|SERPINA1|protein_coding|CODING|ENST00000557118||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 94845944 Proband 54 C A . . Gene=SERPINA1;MT=SNP;MM=CM;CADD=12.07;VMM=34.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000355814|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000440909|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000437397|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000448921|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000393087|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000393088|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000404814|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|418|SERPINA1|protein_coding|CODING|ENST00000449399|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A308S|359|SERPINA1|protein_coding|CODING|ENST00000402629|4|A),UTR_3_PRIME(MODIFIER||1260||306|SERPINA1|nonsense_mediated_decay|CODING|ENST00000489769|3|A),DOWNSTREAM(MODIFIER||3056||104|SERPINA1|protein_coding|CODING|ENST00000554720||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3162||155|SERPINA1|protein_coding|CODING|ENST00000556091||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3197||143|SERPINA1|protein_coding|CODING|ENST00000557492||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3280||116|SERPINA1|protein_coding|CODING|ENST00000556955||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3353||91|SERPINA1|protein_coding|CODING|ENST00000553327||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3564||21|SERPINA1|protein_coding|CODING|ENST00000557118||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4022|||SERPINA1|processed_transcript|CODING|ENST00000555289||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2546553 Proband 54 C T . . Gene=TBC1D24;MT=SNP;MM=CM;CADD=25.8;VMM=131.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P135L|559|TBC1D24|protein_coding|CODING|ENST00000293970|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P135L|376|RP11-20I23.1|protein_coding|CODING|ENST00000564543|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P135L|553|TBC1D24|protein_coding|CODING|ENST00000567020|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P135L|559|TBC1D24|protein_coding|CODING|ENST00000434757|1|T),UPSTREAM(MODIFIER||1770||182|TBC1D24|protein_coding|CODING|ENST00000564879||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4347||19|TBC1D24|nonsense_mediated_decay|CODING|ENST00000569874||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||243||52|TBC1D24|protein_coding|CODING|ENST00000562105||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2548333 Proband 54 C T . . Gene=TBC1D24;MT=SNP;MM=CM;CADD=34;VMM=131.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R360C|559|TBC1D24|protein_coding|CODING|ENST00000293970|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R354C|553|TBC1D24|protein_coding|CODING|ENST00000567020|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R360C|559|TBC1D24|protein_coding|CODING|ENST00000434757|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A4V|182|TBC1D24|protein_coding|CODING|ENST00000564879|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2567||19|TBC1D24|nonsense_mediated_decay|CODING|ENST00000569874||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2023||52|TBC1D24|protein_coding|CODING|ENST00000562105||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||376|RP11-20I23.1|protein_coding|CODING|ENST00000564543|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 7242740 Proband 55 C G . . Gene=C1R;MT=SNP;MM=CM;CADD=26.8;VMM=37.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M111I|653|C1R|protein_coding|CODING|ENST00000542285|3|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M126I|359|C1R|protein_coding|CODING|ENST00000536053|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|atG/atC|M78I|311|C1R|protein_coding|CODING|ENST00000535233|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M112I|345|C1R|protein_coding|CODING|ENST00000542220|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M112I|144|C1R|nonsense_mediated_decay|CODING|ENST00000543362|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M7I|92|C1R|protein_coding|CODING|ENST00000540610|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M87I|155|C1R|protein_coding|CODING|ENST00000543835|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M7I|70|C1R|protein_coding|CODING|ENST00000541042|3|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M112I|155|C1R|protein_coding|CODING|ENST00000540242|3|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atC|M7I|48|C1R|protein_coding|CODING|ENST00000538050|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||3662||65|C1RL|nonsense_mediated_decay|CODING|ENST00000539803|6|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2300|||C1R|processed_transcript|CODING|ENST00000602298||G),DOWNSTREAM(MODIFIER||4410||487|C1RL|protein_coding|CODING|ENST00000266542||G),DOWNSTREAM(MODIFIER||1012|||C1R|retained_intron|CODING|ENST00000536092||G),DOWNSTREAM(MODIFIER||3563||110|C1RL|protein_coding|CODING|ENST00000545280||G),DOWNSTREAM(MODIFIER||4610|||C1RL|processed_transcript|CODING|ENST00000504702||G),EXON(MODIFIER|||||C1R|retained_intron|CODING|ENST00000540394|2|G),EXON(MODIFIER|||||C1R|retained_intron|CODING|ENST00000543851|1|G),EXON(MODIFIER|||||C1R|retained_intron|CODING|ENST00000545466|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 7245099 Proband 55 G C . . Gene=C1R;MT=SNP;MM=CM;CADD=12.74;VMM=37.84;EFF=UTR_5_PRIME(MODIFIER||824||653|C1R|protein_coding|CODING|ENST00000542285|1|C|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||115||345|C1R|protein_coding|CODING|ENST00000542220|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||2339||92|C1R|protein_coding|CODING|ENST00000540610|1|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4659|||C1R|processed_transcript|CODING|ENST00000602298||C),UPSTREAM(MODIFIER||611||359|C1R|protein_coding|CODING|ENST00000536053||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||62|||C1R|retained_intron|CODING|ENST00000540394||C),UPSTREAM(MODIFIER||31||311|C1R|protein_coding|CODING|ENST00000535233||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||73||144|C1R|nonsense_mediated_decay|CODING|ENST00000543362||C),UPSTREAM(MODIFIER||62||155|C1R|protein_coding|CODING|ENST00000543835||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||10||70|C1R|protein_coding|CODING|ENST00000541042||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2145|||C1R|retained_intron|CODING|ENST00000543851||C),UPSTREAM(MODIFIER||10||155|C1R|protein_coding|CODING|ENST00000540242||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||612||48|C1R|protein_coding|CODING|ENST00000538050||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||62|||C1R|retained_intron|CODING|ENST00000545466||C),UPSTREAM(MODIFIER||10|||C1R|retained_intron|CODING|ENST00000536092||C),DOWNSTREAM(MODIFIER||2051||487|C1RL|protein_coding|CODING|ENST00000266542||C),DOWNSTREAM(MODIFIER||1204||110|C1RL|protein_coding|CODING|ENST00000545280||C),DOWNSTREAM(MODIFIER||2251|||C1RL|processed_transcript|CODING|ENST00000504702||C),DOWNSTREAM(MODIFIER||3888||314|C1RL|protein_coding|CODING|ENST00000544702||C),DOWNSTREAM(MODIFIER||4267||192|C1RL|protein_coding|CODING|ENST00000534950||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4651||190|C1RL|protein_coding|CODING|ENST00000543933||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||65|C1RL|nonsense_mediated_decay|CODING|ENST00000539803|3|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57647558 Proband 55 AT A . . Gene=R3HDM2;MT=INDEL;MM=CM;CADD=18.88;VMM=36.07;EFF=UTR_3_PRIME(MODIFIER||997||976|R3HDM2|protein_coding|CODING|ENST00000347140|24|A),UTR_3_PRIME(MODIFIER||997||976|R3HDM2|protein_coding|CODING|ENST00000358907|22|A),UTR_3_PRIME(MODIFIER||997||990|R3HDM2|protein_coding|CODING|ENST00000402412|24|A),UPSTREAM(MODIFIER||2583||364|STAC3|protein_coding|CODING|ENST00000332782||A),UPSTREAM(MODIFIER||2592||325|STAC3|protein_coding|CODING|ENST00000554578||A),UPSTREAM(MODIFIER||2590||104|STAC3|nonsense_mediated_decay|CODING|ENST00000557176||A),UPSTREAM(MODIFIER||2591||178|STAC3|protein_coding|CODING|ENST00000546246||A),UPSTREAM(MODIFIER||2588||167|STAC3|protein_coding|CODING|ENST00000553489||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2590|||STAC3|retained_intron|CODING|ENST00000553294||A),DOWNSTREAM(MODIFIER||980||1010|R3HDM2|protein_coding|CODING|ENST00000403821||A),DOWNSTREAM(MODIFIER||949||671|R3HDM2|protein_coding|CODING|ENST00000441731||A),DOWNSTREAM(MODIFIER||957||741|R3HDM2|protein_coding|CODING|ENST00000429355||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2238||266|R3HDM2|protein_coding|CODING|ENST00000548161||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4304|||R3HDM2|processed_transcript|CODING|ENST00000546843||A),INTRON(MODIFIER||||64|RP11-123K3.4|nonsense_mediated_decay|CODING|ENST00000548184|13|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||596|R3HDM2|protein_coding|CODING|ENST00000413953|13|A),EXON(MODIFIER|||||R3HDM2|retained_intron|CODING|ENST00000393811|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57689171 Proband 55 C G . . Gene=R3HDM2;MT=SNP;MM=CM;CADD=16.74;VMM=36.07;EFF=DOWNSTREAM(MODIFIER||2375|||R3HDM2|processed_transcript|CODING|ENST00000552428||G),DOWNSTREAM(MODIFIER||2616|||R3HDM2|retained_intron|CODING|ENST00000551465||G),INTRON(MODIFIER||||64|RP11-123K3.4|nonsense_mediated_decay|CODING|ENST00000548184|2|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1010|R3HDM2|protein_coding|CODING|ENST00000403821|9|G),INTRON(MODIFIER||||596|R3HDM2|protein_coding|CODING|ENST00000413953|2|G),INTRON(MODIFIER|||||R3HDM2|retained_intron|CODING|ENST00000393811|2|G),INTRON(MODIFIER||||976|R3HDM2|protein_coding|CODING|ENST00000347140|10|G),INTRON(MODIFIER||||976|R3HDM2|protein_coding|CODING|ENST00000358907|8|G),INTRON(MODIFIER||||990|R3HDM2|protein_coding|CODING|ENST00000402412|10|G),INTRON(MODIFIER||||741|R3HDM2|protein_coding|CODING|ENST00000429355|1|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||279|R3HDM2|protein_coding|CODING|ENST00000547262|5|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||R3HDM2|retained_intron|CODING|ENST00000547019|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 40054748 Proband 55 CCTT C . . Gene=CHD6;MT=INDEL;MM=CM;CADD=22.5;VMM=46.49;EFF=CODON_DELETION(MODERATE||aag/|K1371|2715|CHD6|protein_coding|CODING|ENST00000373233|28|C),DOWNSTREAM(MODIFIER||33||524|CHD6|protein_coding|CODING|ENST00000440697||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 40120395 Proband 55 T C . . Gene=CHD6;MT=SNP;MM=CM;CADD=17.47;VMM=46.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q460R|2715|CHD6|protein_coding|CODING|ENST00000373233|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q162R|524|CHD6|protein_coding|CODING|ENST00000440697|6|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q460R|822|CHD6|protein_coding|CODING|ENST00000309279|11|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 10907041 Proband 55 C T . . Gene=TPTE;MT=SNP;MM=CM;CADD=20.9;VMM=60.1;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||551|TPTE|protein_coding|CODING|ENST00000361285|23|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||533|TPTE|protein_coding|CODING|ENST00000298232|22|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||513|TPTE|protein_coding|CODING|ENST00000342420|21|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||TPTE|processed_transcript|CODING|ENST00000447568|18|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||TPTE|processed_transcript|CODING|ENST00000415664|31|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 10944668 Proband 55 C T . . Gene=TPTE;MT=SNP;MM=CM;CADD=23.1;VMM=60.1;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aGa/aAa|R189K|551|TPTE|protein_coding|CODING|ENST00000361285|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aGa/aAa|R171K|533|TPTE|protein_coding|CODING|ENST00000298232|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aGa/aAa|R151K|513|TPTE|protein_coding|CODING|ENST00000342420|9|T),SPLICE_SITE_REGION+EXON(LOW|||||TPTE|processed_transcript|CODING|ENST00000447568|6|T),SPLICE_SITE_REGION+EXON(LOW|||||TPTE|processed_transcript|CODING|ENST00000415664|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 90001237 Proband 55 G A . . Gene=GPR98;MT=SNP;MM=CM;CADD=33;VMM=53.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A2803T|6306|GPR98|protein_coding|CODING|ENST00000405460|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A368T|1607|GPR98|protein_coding|CODING|ENST00000509621|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 90101200 Proband 55 G A . . Gene=GPR98;MT=SNP;MM=CM;CADD=13.96;VMM=53.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A4921T|6306|GPR98|protein_coding|CODING|ENST00000405460|72|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A582T|1967|GPR98|protein_coding|CODING|ENST00000425867|8|A),EXON(MODIFIER|||||GPR98|retained_intron|CODING|ENST00000513828|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140229615 Proband 56 C A . . Gene=PCDHA9;MT=SNP;MM=HM;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gAg|A512E|950|PCDHA9|protein_coding|CODING|ENST00000532602|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gAg|A512E|842|PCDHA9|protein_coding|CODING|ENST00000378122|1|A),INTRON(MODIFIER||||950|PCDHA1|protein_coding|CODING|ENST00000504120|1|A),INTRON(MODIFIER||||948|PCDHA2|protein_coding|CODING|ENST00000526136|1|A),INTRON(MODIFIER||||950|PCDHA3|protein_coding|CODING|ENST00000522353|1|A),INTRON(MODIFIER||||947|PCDHA4|protein_coding|CODING|ENST00000530339|1|A),INTRON(MODIFIER||||936|PCDHA5|protein_coding|CODING|ENST00000529859|1|A),INTRON(MODIFIER||||950|PCDHA6|protein_coding|CODING|ENST00000529310|1|A),INTRON(MODIFIER||||937|PCDHA7|protein_coding|CODING|ENST00000525929|1|A),INTRON(MODIFIER||||950|PCDHA8|protein_coding|CODING|ENST00000531613|1|A),INTRON(MODIFIER||||686|PCDHA1|protein_coding|CODING|ENST00000394633|1|A),INTRON(MODIFIER||||901|PCDHA4|protein_coding|CODING|ENST00000512229|1|A),INTRON(MODIFIER||||890|PCDHA5|protein_coding|CODING|ENST00000529619|1|A),INTRON(MODIFIER||||686|PCDHA6|protein_coding|CODING|ENST00000527624|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34190951 Proband 56 C G . . Gene=CSMD2;MT=SNP;MM=CM;CADD=25.7;VMM=47.58;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gaG/gaC|E898D|3631|CSMD2|protein_coding|CODING|ENST00000373381|17|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gaG/gaC|E858D|3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|17|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34450995 Proband 56 G A . . Gene=CSMD2;MT=SNP;MM=CM;CADD=15.77;VMM=47.58;EFF=INTRON(MODIFIER||||3631|CSMD2|protein_coding|CODING|ENST00000373381|3|A),INTRON(MODIFIER||||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 50432655 Proband 56 C A . . Gene=DCC;MT=SNP;MM=CM;CADD=14.9;VMM=34.63;EFF=SPLICE_SITE_REGION(LOW||||73|DCC|nonsense_mediated_decay|CODING|ENST00000579349|3|A|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|A218|1447|DCC|protein_coding|CODING|ENST00000442544|3|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|A151|771|DCC|nonsense_mediated_decay|CODING|ENST00000304775|2|A|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|A66|897|DCC|protein_coding|CODING|ENST00000412726|3|A),UTR_3_PRIME(MODIFIER||96973||73|DCC|nonsense_mediated_decay|CODING|ENST00000579349|3|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||18|||DCC|processed_transcript|CODING|ENST00000580024||A),DOWNSTREAM(MODIFIER||29||70|DCC|nonsense_mediated_decay|CODING|ENST00000581559||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 50592531 Proband 56 A G . . Gene=DCC;MT=SNP;MM=CM;CADD=20.6;VMM=34.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K419R|1447|DCC|protein_coding|CODING|ENST00000442544|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K352R|771|DCC|nonsense_mediated_decay|CODING|ENST00000304775|6|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K267R|897|DCC|protein_coding|CODING|ENST00000412726|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K74R|1076|DCC|protein_coding|CODING|ENST00000581580|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K74R|101|DCC|protein_coding|CODING|ENST00000578949|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2548|||DCC|retained_intron|CODING|ENST00000579883||G),EXON(MODIFIER|||||DCC|processed_transcript|CODING|ENST00000580146|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 33094990 Proband 56 C A . . Gene=GLB1;MT=SNP;MM=CM;CADD=33;VMM=178.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G310V|725|GLB1|protein_coding|CODING|ENST00000445488|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G262V|677|GLB1|protein_coding|CODING|ENST00000307363|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G232V|647|GLB1|protein_coding|CODING|ENST00000399402|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G131V|546|GLB1|protein_coding|CODING|ENST00000307377|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G103V|184|GLB1|protein_coding|CODING|ENST00000415454|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||4767||84|GLB1|nonsense_mediated_decay|CODING|ENST00000446732|4|A),UTR_3_PRIME(MODIFIER||12009||41|GLB1|nonsense_mediated_decay|CODING|ENST00000438227|4|A),DOWNSTREAM(MODIFIER||4589||113|GLB1|protein_coding|CODING|ENST00000440656||A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000482097|2|A),EXON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000485698|2|A),EXON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000498537|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 33099712 Proband 56 C T . . Gene=GLB1;MT=SNP;MM=CM;CADD=33;VMM=178.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R249H|725|GLB1|protein_coding|CODING|ENST00000445488|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R201H|677|GLB1|protein_coding|CODING|ENST00000307363|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R171H|647|GLB1|protein_coding|CODING|ENST00000399402|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R42H|184|GLB1|protein_coding|CODING|ENST00000415454|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R70H|113|GLB1|protein_coding|CODING|ENST00000440656|5|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||45||84|GLB1|nonsense_mediated_decay|CODING|ENST00000446732|3|T),UTR_3_PRIME(MODIFIER||7287||41|GLB1|nonsense_mediated_decay|CODING|ENST00000438227|3|T),DOWNSTREAM(MODIFIER||3448|||GLB1|processed_transcript|CODING|ENST00000464355||T),INTRON(MODIFIER||||546|GLB1|protein_coding|CODING|ENST00000307377|3|T),INTRON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000482097|1|T),INTRON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000485698|1|T),INTRON(MODIFIER|||||GLB1|processed_transcript|CODING|ENST00000498537|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 133569200 Proband 56 C G . . Gene=EXOSC2;MT=SNP;MM=CM;CADD=15.92;VMM=48.8;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P8A|293|EXOSC2|protein_coding|CODING|ENST00000372358|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P8A|267|EXOSC2|protein_coding|CODING|ENST00000546165|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P8A|285|EXOSC2|protein_coding|CODING|ENST00000372352|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P8A|263|EXOSC2|protein_coding|CODING|ENST00000372351|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P8A|199|EXOSC2|protein_coding|CODING|ENST00000372350|1|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Gca|P3A|235|EXOSC2|protein_coding|CODING|ENST00000495699|1|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000491115|1|G),EXON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000430138|1|G),EXON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000490641|1|G),EXON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000463488|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 133577521 Proband 56 C G . . Gene=EXOSC2;MT=SNP;MM=CM;CADD=26;VMM=48.8;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Cta/Gta|L166V|293|EXOSC2|protein_coding|CODING|ENST00000372358|7|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Cta/Gta|L136V|263|EXOSC2|protein_coding|CODING|ENST00000372351|6|G),SPLICE_SITE_REGION+EXON(LOW|||||EXOSC2|processed_transcript|CODING|ENST00000430138|6|G),DOWNSTREAM(MODIFIER||2343|||EXOSC2|processed_transcript|CODING|ENST00000490641||G),DOWNSTREAM(MODIFIER||2453|||EXOSC2|processed_transcript|CODING|ENST00000463488||G),INTRON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000491115|3|G),INTRON(MODIFIER||||267|EXOSC2|protein_coding|CODING|ENST00000546165|5|G),INTRON(MODIFIER||||285|EXOSC2|protein_coding|CODING|ENST00000372352|6|G),INTRON(MODIFIER||||199|EXOSC2|protein_coding|CODING|ENST00000372350|6|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||235|EXOSC2|protein_coding|CODING|ENST00000495699|5|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||EXOSC2|processed_transcript|CODING|ENST00000467138|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 116946586 Proband 57 G A . . Gene=ATP1A1;MT=SNP;MM=DN;CADD=25.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1011Q|1023|ATP1A1|protein_coding|CODING|ENST00000295598|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1011Q|1023|ATP1A1|protein_coding|CODING|ENST00000537345|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R980Q|992|ATP1A1|protein_coding|CODING|ENST00000369496|22|A),UPSTREAM(MODIFIER||2145|||ATP1A1|processed_transcript|CODING|ENST00000495965||A),DOWNSTREAM(MODIFIER||1931|||ATP1A1|processed_transcript|CODING|ENST00000479960||A),DOWNSTREAM(MODIFIER||1545|||ATP1A1OS|antisense|NON_CODING|ENST00000369491||A),DOWNSTREAM(MODIFIER||1548|||ATP1A1OS|antisense|NON_CODING|ENST00000369492||A),INTRON(MODIFIER|||||ATP1A1OS|processed_transcript|NON_CODING|ENST00000608511|1|A),INTRON(MODIFIER|||||ATP1A1OS|processed_transcript|NON_CODING|ENST00000493908|1|A),INTRON(MODIFIER||||157|ATP1A1|protein_coding|CODING|ENST00000440951|4|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 181701978 Proband 57 G A . . Gene=CACNA1E;MT=SNP;MM=CM;CADD=24;VMM=47.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R919Q|2313|CACNA1E|protein_coding|CODING|ENST00000367573|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R870Q|2264|CACNA1E|protein_coding|CODING|ENST00000357570|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R851Q|2202|CACNA1E|protein_coding|CODING|ENST00000358338|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R526Q|1877|CACNA1E|protein_coding|CODING|ENST00000367567|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R919Q|2270|CACNA1E|protein_coding|CODING|ENST00000367570|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R900Q|2251|CACNA1E|protein_coding|CODING|ENST00000526775|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R900Q|2294|CACNA1E|protein_coding|CODING|ENST00000360108|19|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 181724381 Proband 57 C T . . Gene=CACNA1E;MT=SNP;MM=CM;CADD=16.78;VMM=47.63;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1279|2313|CACNA1E|protein_coding|CODING|ENST00000367573|28|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1230|2264|CACNA1E|protein_coding|CODING|ENST00000357570|28|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1211|2202|CACNA1E|protein_coding|CODING|ENST00000358338|27|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F886|1877|CACNA1E|protein_coding|CODING|ENST00000367567|28|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1279|2270|CACNA1E|protein_coding|CODING|ENST00000367570|28|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1260|2251|CACNA1E|protein_coding|CODING|ENST00000526775|27|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1260|2294|CACNA1E|protein_coding|CODING|ENST00000360108|27|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 116397232 Proband 57 A G . . Gene=MED13L;MT=SNP;MM=CM;CADD=13.99;VMM=31.61;EFF=UTR_3_PRIME(MODIFIER||1839||2210|MED13L|protein_coding|CODING|ENST00000281928|31|G),UPSTREAM(MODIFIER||1760|||RP11-493P1.2|antisense|NON_CODING|ENST00000549725||G),INTRON(MODIFIER|||||MED13L|processed_transcript|CODING|ENST00000552023|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 116446294 Proband 57 C G . . Gene=MED13L;MT=SNP;MM=CM;CADD=20.3;VMM=31.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D642H|2210|MED13L|protein_coding|CODING|ENST00000281928|10|G),EXON(MODIFIER|||||MED13L|retained_intron|CODING|ENST00000549755|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 122396990 Proband 57 T C . . Gene=WDR66;MT=SNP;MM=CM;CADD=25.8;VMM=30.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M708T|1149|WDR66|protein_coding|CODING|ENST00000288912|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M708T|941|WDR66|protein_coding|CODING|ENST00000397454|13|C),UPSTREAM(MODIFIER||2910|||WDR66|processed_transcript|CODING|ENST00000545752||C),EXON(MODIFIER|||||WDR66|retained_intron|CODING|ENST00000543211|5|C),EXON(MODIFIER|||||WDR66|retained_intron|CODING|ENST00000535257|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 122413495 Proband 57 C T . . Gene=WDR66;MT=SNP;MM=CM;CADD=11.14;VMM=30.68;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I970|1149|WDR66|protein_coding|CODING|ENST00000288912|19|T),DOWNSTREAM(MODIFIER||3520||941|WDR66|protein_coding|CODING|ENST00000397454||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15110942 Proband 57 ATAAT A . . Gene=PDXDC1;MT=INDEL;MM=CM;CADD=18.33;VMM=30.52;EFF=DOWNSTREAM(MODIFIER||1020|||RP11-680G24.5|antisense|NON_CODING|ENST00000565178||A),INTRON(MODIFIER||||806|PDXDC1|protein_coding|CODING|ENST00000563679|9|A),INTRON(MODIFIER||||773|PDXDC1|protein_coding|CODING|ENST00000325823|9|A),INTRON(MODIFIER||||697|PDXDC1|protein_coding|CODING|ENST00000447912|8|A),INTRON(MODIFIER||||498|PDXDC1|protein_coding|CODING|ENST00000535621|9|A),INTRON(MODIFIER||||429|PDXDC1|protein_coding|CODING|ENST00000455313|8|A),INTRON(MODIFIER||||64|PDXDC1|nonsense_mediated_decay|CODING|ENST00000562119|4|A),INTRON(MODIFIER||||788|PDXDC1|protein_coding|CODING|ENST00000396410|9|A),INTRON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000570001|9|A),INTRON(MODIFIER||||761|PDXDC1|protein_coding|CODING|ENST00000569715|8|A),INTRON(MODIFIER||||760|PDXDC1|protein_coding|CODING|ENST00000450288|8|A),INTRON(MODIFIER||||270|PDXDC1|protein_coding|CODING|ENST00000567306|8|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000561930|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15131439 Proband 57 CAT C . . Gene=PDXDC1;MT=INDEL;MM=CM;CADD=14.92;VMM=30.52;EFF=UTR_3_PRIME(MODIFIER||1308||788|PDXDC1|protein_coding|CODING|ENST00000396410|23|C),UTR_3_PRIME(MODIFIER||1308||761|PDXDC1|protein_coding|CODING|ENST00000569715|22|C),DOWNSTREAM(MODIFIER||905||806|PDXDC1|protein_coding|CODING|ENST00000563679||C),DOWNSTREAM(MODIFIER||270||310|NTAN1|protein_coding|CODING|ENST00000287706||C),DOWNSTREAM(MODIFIER||905||773|PDXDC1|protein_coding|CODING|ENST00000325823||C),DOWNSTREAM(MODIFIER||1189||697|PDXDC1|protein_coding|CODING|ENST00000447912||C),DOWNSTREAM(MODIFIER||1386||64|PDXDC1|nonsense_mediated_decay|CODING|ENST00000562119||C),DOWNSTREAM(MODIFIER||979||760|PDXDC1|protein_coding|CODING|ENST00000450288||C),DOWNSTREAM(MODIFIER||4930|||PDXDC1|retained_intron|CODING|ENST00000566633||C),DOWNSTREAM(MODIFIER||1496|||PDXDC1|retained_intron|CODING|ENST00000565986||C),DOWNSTREAM(MODIFIER||271|||NTAN1|retained_intron|CODING|ENST00000566542||C),DOWNSTREAM(MODIFIER||291||45|NTAN1|nonsense_mediated_decay|CODING|ENST00000565187||C),DOWNSTREAM(MODIFIER||562||18|NTAN1|nonsense_mediated_decay|CODING|ENST00000568738||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||991||145|NTAN1|protein_coding|CODING|ENST00000568320||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||993||222|NTAN1|protein_coding|CODING|ENST00000566419||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1025|||NTAN1|retained_intron|CODING|ENST00000570292||C),DOWNSTREAM(MODIFIER||4040||27|NTAN1|nonsense_mediated_decay|CODING|ENST00000563940||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||498|PDXDC1|protein_coding|CODING|ENST00000535621|16|C),EXON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000570001|22|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44102147 Proband 57 G A . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=36;VMM=135.13;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1668*|2211|LOXHD1|protein_coding|CODING|ENST00000536736|32|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R557*|1114|LOXHD1|protein_coding|CODING|ENST00000300591|14|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R461*|1011|LOXHD1|protein_coding|CODING|ENST00000579038|12|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1390*|1947|LOXHD1|protein_coding|CODING|ENST00000398722|25|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R601*|1144|LOXHD1|protein_coding|CODING|ENST00000441893|13|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R557*|1100|LOXHD1|protein_coding|CODING|ENST00000582408|13|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1462*|2067|LOXHD1|protein_coding|CODING|ENST00000441551|30|A),UPSTREAM(MODIFIER||3113||457|LOXHD1|protein_coding|CODING|ENST00000398705||A),UPSTREAM(MODIFIER||3098||512|LOXHD1|protein_coding|CODING|ENST00000398686||A),UPSTREAM(MODIFIER||1486||179|LOXHD1|protein_coding|CODING|ENST00000414184||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1459||56|LOXHD1|protein_coding|CODING|ENST00000452425||A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||LOXHD1|retained_intron|CODING|ENST00000335730|25|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44121778 Proband 57 G A . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=25;VMM=135.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L1292F|2211|LOXHD1|protein_coding|CODING|ENST00000536736|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L181F|1114|LOXHD1|protein_coding|CODING|ENST00000300591|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L85F|1011|LOXHD1|protein_coding|CODING|ENST00000579038|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L1014F|1947|LOXHD1|protein_coding|CODING|ENST00000398722|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L225F|1144|LOXHD1|protein_coding|CODING|ENST00000441893|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L181F|1100|LOXHD1|protein_coding|CODING|ENST00000582408|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L1086F|2067|LOXHD1|protein_coding|CODING|ENST00000441551|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L194F|306|LOXHD1|nonsense_mediated_decay|CODING|ENST00000536111|5|A),EXON(MODIFIER|||||LOXHD1|retained_intron|CODING|ENST00000335730|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 43153647 Proband 57 A C . . Gene=HECW1;MT=SNP;MM=CM;CADD=13.96;VMM=38.97;EFF=UPSTREAM(MODIFIER||3848|||HECW1-IT1|sense_intronic|NON_CODING|ENST00000322220||C),INTRON(MODIFIER||||1606|HECW1|protein_coding|CODING|ENST00000395891|1|C),INTRON(MODIFIER|||||HECW1|processed_transcript|CODING|ENST00000490954|1|C),INTRON(MODIFIER||||1572|HECW1|protein_coding|CODING|ENST00000453890|1|C),EXON(MODIFIER|||||HECW1|processed_transcript|CODING|ENST00000492310|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 43490509 Proband 57 C G . . Gene=HECW1;MT=SNP;MM=CM;CADD=24.7;VMM=38.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I827M|1606|HECW1|protein_coding|CODING|ENST00000395891|12|G),INTRON(MODIFIER||||1572|HECW1|protein_coding|CODING|ENST00000453890|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45855824 Proband 58 C G . . Gene=ERCC2;MT=SNP;MM=DN;CADD=28.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q662H|760|ERCC2|protein_coding|CODING|ENST00000391945|21|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q584H|682|ERCC2|protein_coding|CODING|ENST00000391944|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q638H|705|ERCC2|protein_coding|CODING|ENST00000391941|20|G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1046||518|KLC3|protein_coding|CODING|ENST00000470402||G),DOWNSTREAM(MODIFIER||2179||395|KLC3|protein_coding|CODING|ENST00000589373||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1046||504|KLC3|protein_coding|CODING|ENST00000391946||G),DOWNSTREAM(MODIFIER||1051||503|KLC3|protein_coding|CODING|ENST00000585434||G),DOWNSTREAM(MODIFIER||3674||296|KLC3|protein_coding|CODING|ENST00000589837||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||676||201|ERCC2|nonsense_mediated_decay|CODING|ENST00000587376||G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ERCC2|retained_intron|CODING|ENST00000588652|8|G),EXON(MODIFIER|||||ERCC2|retained_intron|CODING|ENST00000391942|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 50679160 Proband 58 G T . . Gene=ERCC6;MT=SNP;MM=CM;CADD=13.49;VMM=34.42;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I977|1493|ERCC6|protein_coding|CODING|ENST00000355832|17|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I347|863|ERCC6|protein_coding|CODING|ENST00000542458|11|T),UPSTREAM(MODIFIER||833|||ERCC6|processed_transcript|CODING|ENST00000465653||T),INTRON(MODIFIER|||||RP11-123B3.2|antisense|NON_CODING|ENST00000423283|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 50732139 Proband 58 C T . . Gene=ERCC6;MT=SNP;MM=CM;CADD=22.9;VMM=34.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G446D|1493|ERCC6|protein_coding|CODING|ENST00000355832|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G446D|1061|ERCC6-PGBD3|protein_coding|CODING|ENST00000447839|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G446D|1061|PGBD3|protein_coding|CODING|ENST00000603152|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G446D|1061|ERCC6-PGBD3|protein_coding|CODING|ENST00000515869|5|T),UTR_5_PRIME(MODIFIER||6979||593|PGBD3|protein_coding|CODING|ENST00000374127|1|T),DOWNSTREAM(MODIFIER||843|||ERCC6|processed_transcript|CODING|ENST00000479652||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 80661098 Proband 58 C T . . Gene=OTOGL;MT=SNP;MM=CM;CADD=21.4;VMM=61.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S810L|2344|OTOGL|protein_coding|CODING|ENST00000458043|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S810L|2332|OTOGL|protein_coding|CODING|ENST00000547103|21|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 80732900 Proband 58 G A . . Gene=OTOGL;MT=SNP;MM=CM;CADD=23;VMM=61.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1627K|2344|OTOGL|protein_coding|CODING|ENST00000458043|42|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1615K|2332|OTOGL|protein_coding|CODING|ENST00000547103|42|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E69K|751|OTOGL|protein_coding|CODING|ENST00000298820|4|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4395|||RN7SKP261|misc_RNA|NON_CODING|ENST00000410948||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115779235 Proband 58 T A . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=16.27;VMM=33;EFF=UPSTREAM(MODIFIER||4064|||CTB-118N6.3|antisense|NON_CODING|ENST00000508424||A),UPSTREAM(MODIFIER||4008|||CTB-118N6.3|antisense|NON_CODING|ENST00000512128||A),DOWNSTREAM(MODIFIER||869|||AC010296.1|pseudogene|NON_CODING|ENST00000542571||A),DOWNSTREAM(MODIFIER||2211||1047|SEMA6A|protein_coding|CODING|ENST00000257414||A),DOWNSTREAM(MODIFIER||77||1030|SEMA6A|protein_coding|CODING|ENST00000343348||A),DOWNSTREAM(MODIFIER||2595||457|SEMA6A|protein_coding|CODING|ENST00000513137||A),DOWNSTREAM(MODIFIER||2595||507|SEMA6A|protein_coding|CODING|ENST00000282394||A),DOWNSTREAM(MODIFIER||2595||544|SEMA6A|protein_coding|CODING|ENST00000515129||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2925||409|SEMA6A|protein_coding|CODING|ENST00000503865||A),DOWNSTREAM(MODIFIER||3074||1030|SEMA6A|protein_coding|CODING|ENST00000510263||A),DOWNSTREAM(MODIFIER||4149|||SEMA6A|processed_transcript|CODING|ENST00000506114||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115827309 Proband 58 C G . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=17.97;VMM=33;EFF=UPSTREAM(MODIFIER||4384|||SEMA6A|retained_intron|CODING|ENST00000503402||G),UPSTREAM(MODIFIER||2604|||SEMA6A|retained_intron|CODING|ENST00000510024||G),DOWNSTREAM(MODIFIER||183||158|SEMA6A|protein_coding|CODING|ENST00000515009||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4638||113|SEMA6A|protein_coding|CODING|ENST00000509665||G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1047|SEMA6A|protein_coding|CODING|ENST00000257414|7|G),INTRON(MODIFIER||||1030|SEMA6A|protein_coding|CODING|ENST00000343348|7|G),INTRON(MODIFIER||||1030|SEMA6A|protein_coding|CODING|ENST00000510263|7|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000510682|1|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000508640|1|G),INTRON(MODIFIER|||||CTB-118N6.3|antisense|NON_CODING|ENST00000514214|1|G),INTRON(MODIFIER|||||SEMA6A|processed_transcript|CODING|ENST00000502996|3|G),INTRON(MODIFIER|||||SEMA6A|processed_transcript|CODING|ENST00000503962|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42706540 Proband 59 T C . . Gene=ZNF106;MT=SNP;MM=DN;CADD=15.03;VMM=0;EFF=UTR_3_PRIME(MODIFIER||2962||1883|ZNF106|protein_coding|CODING|ENST00000263805|19|C),DOWNSTREAM(MODIFIER||2025|||RP11-164J13.1|processed_transcript|NON_CODING|ENST00000495723||C),DOWNSTREAM(MODIFIER||2026||821|CAPN3|protein_coding|CODING|ENST00000397163||C),DOWNSTREAM(MODIFIER||2025||728|CAPN3|protein_coding|CODING|ENST00000356316||C),DOWNSTREAM(MODIFIER||2025|||RP11-164J13.1|processed_transcript|NON_CODING|ENST00000466369||C),DOWNSTREAM(MODIFIER||2025|||RP11-164J13.1|processed_transcript|NON_CODING|ENST00000549793||C),DOWNSTREAM(MODIFIER||2569||815|CAPN3|protein_coding|CODING|ENST00000318023||C),DOWNSTREAM(MODIFIER||2569||815|CAPN3|protein_coding|CODING|ENST00000357568||C),DOWNSTREAM(MODIFIER||2025||729|CAPN3|protein_coding|CODING|ENST00000349748||C),DOWNSTREAM(MODIFIER||2025||309|CAPN3|protein_coding|CODING|ENST00000397200||C),DOWNSTREAM(MODIFIER||3001||254|CAPN3|protein_coding|CODING|ENST00000569827||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4379||186|CAPN3|protein_coding|CODING|ENST00000567071||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2027||156|CAPN3|protein_coding|CODING|ENST00000337571||C),DOWNSTREAM(MODIFIER||2400||156|CAPN3|protein_coding|CODING|ENST00000569136||C),DOWNSTREAM(MODIFIER||2025||191|CAPN3|protein_coding|CODING|ENST00000561817||C),DOWNSTREAM(MODIFIER||2027||156|CAPN3|protein_coding|CODING|ENST00000397204||C),DOWNSTREAM(MODIFIER||3431||156|CAPN3|protein_coding|CODING|ENST00000565559||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2479||110|CAPN3|nonsense_mediated_decay|CODING|ENST00000565274||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2485||168|CAPN3|protein_coding|CODING|ENST00000564503||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2024|||CAPN3|retained_intron|CODING|ENST00000466222||C),DOWNSTREAM(MODIFIER||3341|||CAPN3|processed_transcript|CODING|ENST00000562199||C),DOWNSTREAM(MODIFIER||2034||93|CAPN3|nonsense_mediated_decay|CODING|ENST00000567817||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2095||66|CAPN3|nonsense_mediated_decay|CODING|ENST00000568153||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||779||1111|ZNF106|protein_coding|CODING|ENST00000565380||C),DOWNSTREAM(MODIFIER||781||849|ZNF106|protein_coding|CODING|ENST00000565500||C),DOWNSTREAM(MODIFIER||953||217|ZNF106|protein_coding|CODING|ENST00000569648||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1398||1068|ZNF106|protein_coding|CODING|ENST00000565611||C),DOWNSTREAM(MODIFIER||3527|||ZNF106|retained_intron|CODING|ENST00000568906||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 11994722 Proband 59 T A . . Gene=USP17L2;MT=SNP;MM=HM;CADD=21.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaA/aaT|K516N|530|USP17L2|protein_coding|CODING|ENST00000333796|1|A),UPSTREAM(MODIFIER||2769|||USP17L7|processed_pseudogene|NON_CODING|ENST00000530447||A),UPSTREAM(MODIFIER||3204|||USP17L7|processed_pseudogene|NON_CODING|ENST00000416902||A),INTRON(MODIFIER|||||FAM66D|antisense|NON_CODING|ENST00000434078|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 83195244 Proband 59 A C . . Gene=DLG2;MT=SNP;MM=CM;CADD=19.56;VMM=38.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F741V|975|DLG2|protein_coding|CODING|ENST00000376104|22|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F636V|870|DLG2|protein_coding|CODING|ENST00000398309|17|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F675V|909|DLG2|protein_coding|CODING|ENST00000280241|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F741V|975|DLG2|protein_coding|CODING|ENST00000543673|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F603V|811|DLG2|protein_coding|CODING|ENST00000531015|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F5V|164|DLG2|protein_coding|CODING|ENST00000457267|1|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Gtc|F118V|220|DLG2|protein_coding|CODING|ENST00000420775|5|C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1954||142|DLG2|protein_coding|CODING|ENST00000530800||C),INTRON(MODIFIER||||334|DLG2|protein_coding|CODING|ENST00000426717|4|C),INTRON(MODIFIER||||749|DLG2|protein_coding|CODING|ENST00000418306|13|C),INTRON(MODIFIER||||348|DLG2|protein_coding|CODING|ENST00000404783|4|C),INTRON(MODIFIER||||791|DLG2|protein_coding|CODING|ENST00000330014|15|C),INTRON(MODIFIER||||334|DLG2|protein_coding|CODING|ENST00000376106|15|C),INTRON(MODIFIER||||620|DLG2|protein_coding|CODING|ENST00000537455|15|C),INTRON(MODIFIER||||866|DLG2|protein_coding|CODING|ENST00000524982|16|C),INTRON(MODIFIER||||852|DLG2|protein_coding|CODING|ENST00000532653|16|C),INTRON(MODIFIER||||108|DLG2|protein_coding|CODING|ENST00000524601|4|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||129|DLG2|protein_coding|CODING|ENST00000398304|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 83497524 Proband 59 CCTTT C . . Gene=DLG2;MT=INDEL;MM=CM;CADD=16.92;VMM=38.04;EFF=UTR_3_PRIME(MODIFIER||173||552|DLG2|protein_coding|CODING|ENST00000398301|12|C),DOWNSTREAM(MODIFIER||3495|||RP11-160H12.3|processed_pseudogene|NON_CODING|ENST00000528055||C),INTRON(MODIFIER||||975|DLG2|protein_coding|CODING|ENST00000376104|18|C),INTRON(MODIFIER||||870|DLG2|protein_coding|CODING|ENST00000398309|13|C),INTRON(MODIFIER||||749|DLG2|protein_coding|CODING|ENST00000418306|10|C),INTRON(MODIFIER||||909|DLG2|protein_coding|CODING|ENST00000280241|12|C),INTRON(MODIFIER||||975|DLG2|protein_coding|CODING|ENST00000543673|16|C),INTRON(MODIFIER||||791|DLG2|protein_coding|CODING|ENST00000330014|12|C),INTRON(MODIFIER||||334|DLG2|protein_coding|CODING|ENST00000376106|12|C),INTRON(MODIFIER||||620|DLG2|protein_coding|CODING|ENST00000537455|12|C),INTRON(MODIFIER||||866|DLG2|protein_coding|CODING|ENST00000524982|13|C),INTRON(MODIFIER||||852|DLG2|protein_coding|CODING|ENST00000532653|13|C),INTRON(MODIFIER||||811|DLG2|protein_coding|CODING|ENST00000531015|12|C),INTRON(MODIFIER|||||DLG2|retained_intron|CODING|ENST00000529111|13|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31615422 Proband 59 G A . . Gene=BAG6;MT=SNP;MM=CM;CADD=22.7;VMM=31.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|1162|BAG6|protein_coding|CODING|ENST00000404765|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|1126|BAG6|protein_coding|CODING|ENST00000375976|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|1126|BAG6|protein_coding|CODING|ENST00000211379|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|903|BAG6|protein_coding|CODING|ENST00000439687|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T251I|1132|BAG6|protein_coding|CODING|ENST00000375964|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|1077|BAG6|protein_coding|CODING|ENST00000362049|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|741|BAG6|protein_coding|CODING|ENST00000437771|7|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|514|BAG6|protein_coding|CODING|ENST00000435080|7|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T227I|243|BAG6|protein_coding|CODING|ENST00000434444|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|261|BAG6|protein_coding|CODING|ENST00000452994|7|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T227I|243|BAG6|protein_coding|CODING|ENST00000456622|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|261|BAG6|protein_coding|CODING|ENST00000428326|7|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T227I|242|BAG6|protein_coding|CODING|ENST00000451898|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|258|BAG6|protein_coding|CODING|ENST00000433828|7|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T245I|257|BAG6|protein_coding|CODING|ENST00000424480|7|A|WARNING_TRANSCRIPT_INCOMPLETE),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||1126|BAG6|protein_coding|CODING||7|A),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||903|BAG6|protein_coding|CODING||7|A),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||1132|BAG6|protein_coding|CODING||7|A),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||1077|BAG6|protein_coding|CODING||7|A),UPSTREAM(MODIFIER||3329|||BAG6|processed_transcript|CODING|ENST00000470875||A),UPSTREAM(MODIFIER||3445|||BAG6|processed_transcript|CODING|ENST00000465348||A),UPSTREAM(MODIFIER||2576||237|BAG6|protein_coding|CODING|ENST00000438149||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2084|||BAG6|processed_transcript|CODING|ENST00000469182||A),UPSTREAM(MODIFIER||2142||183|BAG6|protein_coding|CODING|ENST00000453833||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2460|||BAG6|processed_transcript|CODING|ENST00000462682||A),UPSTREAM(MODIFIER||4771||129|APOM|protein_coding|CODING|ENST00000375918||A),UPSTREAM(MODIFIER||4772||116|APOM|protein_coding|CODING|ENST00000375920||A),DOWNSTREAM(MODIFIER||35||214|BAG6|protein_coding|CODING|ENST00000424176||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||61||205|BAG6|protein_coding|CODING|ENST00000441054||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||143||196|BAG6|protein_coding|CODING|ENST00000456286||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1267||157|BAG6|protein_coding|CODING|ENST00000454165||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31620385 Proband 59 A C . . Gene=BAG6;MT=SNP;MM=CM;CADD=12.66;VMM=31.54;EFF=UTR_5_PRIME(MODIFIER||845||1162|BAG6|protein_coding|CODING|ENST00000404765|1|C),UTR_5_PRIME(MODIFIER||845||1126|BAG6|protein_coding|CODING|ENST00000211379|1|C),UTR_5_PRIME(MODIFIER||845||903|BAG6|protein_coding|CODING|ENST00000439687|1|C),UTR_5_PRIME(MODIFIER||845||1132|BAG6|protein_coding|CODING|ENST00000375964|1|C),UTR_5_PRIME(MODIFIER||845||1077|BAG6|protein_coding|CODING|ENST00000362049|1|C),UTR_5_PRIME(MODIFIER||845||741|BAG6|protein_coding|CODING|ENST00000437771|1|C|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||845||242|BAG6|protein_coding|CODING|ENST00000451898|1|C|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||845||257|BAG6|protein_coding|CODING|ENST00000424480|1|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2863||188|APOM|protein_coding|CODING|ENST00000375916||C),UPSTREAM(MODIFIER||215||1126|BAG6|protein_coding|CODING|ENST00000375976||C),UPSTREAM(MODIFIER||222||514|BAG6|protein_coding|CODING|ENST00000435080||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||688||243|BAG6|protein_coding|CODING|ENST00000434444||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||450||261|BAG6|protein_coding|CODING|ENST00000452994||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||250||243|BAG6|protein_coding|CODING|ENST00000456622||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||455||261|BAG6|protein_coding|CODING|ENST00000428326||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||633||258|BAG6|protein_coding|CODING|ENST00000433828||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||285||214|BAG6|protein_coding|CODING|ENST00000424176||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||163||205|BAG6|protein_coding|CODING|ENST00000441054||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||629||196|BAG6|protein_coding|CODING|ENST00000456286||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||493||157|BAG6|protein_coding|CODING|ENST00000454165||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||129|APOM|protein_coding|CODING|ENST00000375918|1|C),INTRON(MODIFIER||||116|APOM|protein_coding|CODING|ENST00000375920|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 39847198 Proband 59 G A . . Gene=DAAM2;MT=SNP;MM=CM;CADD=11.68;VMM=30.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R597H|1068|DAAM2|protein_coding|CODING|ENST00000274867|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R597H|1068|DAAM2|protein_coding|CODING|ENST00000398904|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R597H|1067|DAAM2|protein_coding|CODING|ENST00000538976|14|A),DOWNSTREAM(MODIFIER||2382|||RP11-61I13.3|antisense|NON_CODING|ENST00000607675||A),DOWNSTREAM(MODIFIER||649|||DAAM2|processed_transcript|CODING|ENST00000491083||A),DOWNSTREAM(MODIFIER||4094|||RP11-61I13.3|antisense|NON_CODING|ENST00000607215||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 39859495 Proband 59 G C . . Gene=DAAM2;MT=SNP;MM=CM;CADD=23.9;VMM=30.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E780Q|1068|DAAM2|protein_coding|CODING|ENST00000274867|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E780Q|1068|DAAM2|protein_coding|CODING|ENST00000398904|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E780Q|1067|DAAM2|protein_coding|CODING|ENST00000538976|19|C),UPSTREAM(MODIFIER||2788|||RP11-61I13.3|antisense|NON_CODING|ENST00000607675||C),DOWNSTREAM(MODIFIER||358|||DAAM2|processed_transcript|CODING|ENST00000496787||C),INTRON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000606829|1|C),INTRON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000420293|1|C),EXON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000430595|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 43482369 Proband 59 C T . . Gene=HECW1;MT=SNP;MM=CM;CADD=19.7;VMM=31.2;EFF=DOWNSTREAM(MODIFIER||4007|||HECW1|processed_transcript|CODING|ENST00000492310||T),DOWNSTREAM(MODIFIER||2173|||HECW1|processed_transcript|CODING|ENST00000471043||T),INTRON(MODIFIER||||1606|HECW1|protein_coding|CODING|ENST00000395891|10|T),INTRON(MODIFIER||||1572|HECW1|protein_coding|CODING|ENST00000453890|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 43548655 Proband 59 G A . . Gene=HECW1;MT=SNP;MM=CM;CADD=14.22;VMM=31.2;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S1318|1606|HECW1|protein_coding|CODING|ENST00000395891|24|A),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S1284|1572|HECW1|protein_coding|CODING|ENST00000453890|22|A),INTRON(MODIFIER||||136|HECW1|protein_coding|CODING|ENST00000429529|1|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||AC011738.4|antisense|NON_CODING|ENST00000436105|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144994769 Proband 59 C T . . Gene=PLEC;MT=SNP;MM=CM;CADD=15.08;VMM=42.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3211T|4684|PLEC|protein_coding|CODING|ENST00000322810|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3074T|4547|PLEC|protein_coding|CODING|ENST00000345136|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3078T|4551|PLEC|protein_coding|CODING|ENST00000357649|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3074T|4547|PLEC|protein_coding|CODING|ENST00000354589|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3042T|4515|PLEC|protein_coding|CODING|ENST00000398774|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3052T|4525|PLEC|protein_coding|CODING|ENST00000354958|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3060T|4533|PLEC|protein_coding|CODING|ENST00000356346|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3101T|4574|PLEC|protein_coding|CODING|ENST00000436759|33|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A3097T|4570|PLEC|protein_coding|CODING|ENST00000527096|32|T),DOWNSTREAM(MODIFIER||1331||197|PLEC|protein_coding|CODING|ENST00000527303||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 145004139 Proband 59 C T . . Gene=PLEC;MT=SNP;MM=CM;CADD=24.3;VMM=42.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1039N|4684|PLEC|protein_coding|CODING|ENST00000322810|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D902N|4547|PLEC|protein_coding|CODING|ENST00000345136|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D906N|4551|PLEC|protein_coding|CODING|ENST00000357649|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D902N|4547|PLEC|protein_coding|CODING|ENST00000354589|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D870N|4515|PLEC|protein_coding|CODING|ENST00000398774|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D880N|4525|PLEC|protein_coding|CODING|ENST00000354958|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D888N|4533|PLEC|protein_coding|CODING|ENST00000356346|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D929N|4574|PLEC|protein_coding|CODING|ENST00000436759|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D925N|4570|PLEC|protein_coding|CODING|ENST00000527096|22|T),UPSTREAM(MODIFIER||2960||197|PLEC|protein_coding|CODING|ENST00000527303||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2429||702|PLEC|protein_coding|CODING|ENST00000528025||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 77168768 Proband 60 T A . . Gene=ZNF503-AS2;MT=SNP;MM=HR;CADD=17.89;VMM=0;EFF=UPSTREAM(MODIFIER||147|||RP11-399K21.14|lincRNA|NON_CODING|ENST00000609200||A),DOWNSTREAM(MODIFIER||30|||ZNF503-AS2|antisense|NON_CODING|ENST00000425916||A),DOWNSTREAM(MODIFIER||1069|||ZNF503-AS2|antisense|NON_CODING|ENST00000466942||A),DOWNSTREAM(MODIFIER||1315|||ZNF503-AS2|antisense|NON_CODING|ENST00000486015||A),DOWNSTREAM(MODIFIER||1052|||ZNF503-AS2|processed_transcript|NON_CODING|ENST00000491557||A),DOWNSTREAM(MODIFIER||702|||ZNF503-AS2|processed_transcript|NON_CODING|ENST00000484411||A),DOWNSTREAM(MODIFIER||1316|||ZNF503-AS2|processed_transcript|NON_CODING|ENST00000527641||A),EXON(MODIFIER|||||RP11-399K21.13|lincRNA|NON_CODING|ENST00000609182|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22202483 Proband 60 G A . . Gene=HSPG2;MT=SNP;MM=CM;CADD=19.24;VMM=56.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1019L|4391|HSPG2|protein_coding|CODING|ENST00000374695|24|A),UPSTREAM(MODIFIER||1284||195|HSPG2|protein_coding|CODING|ENST00000427897||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||782|||HSPG2|processed_transcript|CODING|ENST00000498495||A),DOWNSTREAM(MODIFIER||1524|||HSPG2|retained_intron|CODING|ENST00000480900||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22217095 Proband 60 C T . . Gene=HSPG2;MT=SNP;MM=CM;CADD=24.1;VMM=56.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E113K|4391|HSPG2|protein_coding|CODING|ENST00000374695|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E79K|190|HSPG2|protein_coding|CODING|ENST00000439717|3|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1881||177|HSPG2|protein_coding|CODING|ENST00000374673||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||239|HSPG2|protein_coding|CODING|ENST00000412328|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28834477 Proband 60 ATAGG A . . Gene=RCC1;MT=INDEL;MM=CM;CADD=14.74;VMM=42.31;EFF=UPSTREAM(MODIFIER||593|||SNORA73B|snoRNA|NON_CODING|ENST00000363217||A),UPSTREAM(MODIFIER||2111||271|RCC1|protein_coding|CODING|ENST00000419074||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||395|||SNHG3|snoRNA|NON_CODING|ENST00000364938||A),INTRON(MODIFIER||||421|RCC1|protein_coding|CODING|ENST00000398958|1|A),INTRON(MODIFIER|||||SNHG3|retained_intron|NON_CODING|ENST00000413987|1|A),INTRON(MODIFIER||||229|RCC1|protein_coding|CODING|ENST00000427469|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||SNHG3|retained_intron|NON_CODING|ENST00000447507|1|A),INTRON(MODIFIER||||271|RCC1|protein_coding|CODING|ENST00000434290|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||421|RCC1|protein_coding|CODING|ENST00000373833|1|A),EXON(MODIFIER|||||SNHG3|retained_intron|NON_CODING|ENST00000437681|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28858371 Proband 60 G A . . Gene=RCC1;MT=SNP;MM=CM;CADD=25;VMM=42.31;EFF=PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||421|RCC1|protein_coding|CODING||5|A),PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||421|RCC1|protein_coding|CODING||6|A),PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||421|RCC1|protein_coding|CODING||3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D75N|452|RCC1|protein_coding|CODING|ENST00000373831|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|421|RCC1|protein_coding|CODING|ENST00000398958|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|229|RCC1|protein_coding|CODING|ENST00000427469|5|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D52N|271|RCC1|protein_coding|CODING|ENST00000434290|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|421|RCC1|protein_coding|CODING|ENST00000373833|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|271|RCC1|protein_coding|CODING|ENST00000419074|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|421|RCC1|protein_coding|CODING|ENST00000373832|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D61N|371|RCC1|protein_coding|CODING|ENST00000411533|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|282|RCC1|protein_coding|CODING|ENST00000430407|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4632|||PRDX3P2|processed_pseudogene|NON_CODING|ENST00000447051||A),UPSTREAM(MODIFIER||76|||RCC1|processed_transcript|CODING|ENST00000429051||A),UPSTREAM(MODIFIER||4234|||RCC1|retained_intron|CODING|ENST00000478232||A),DOWNSTREAM(MODIFIER||41||147|RCC1|protein_coding|CODING|ENST00000486790||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 148711906 Proband 60 GT G . . Gene=GYG1;MT=INDEL;MM=CM;CADD=15.83;VMM=41.96;EFF=UPSTREAM(MODIFIER||92|||GYG1|processed_transcript|CODING|ENST00000465547||G),UPSTREAM(MODIFIER||2711|||GYG1|processed_transcript|CODING|ENST00000497528||G),INTRON(MODIFIER||||350|GYG1|protein_coding|CODING|ENST00000345003|1|G),INTRON(MODIFIER||||333|GYG1|protein_coding|CODING|ENST00000296048|1|G),INTRON(MODIFIER||||193|GYG1|protein_coding|CODING|ENST00000483267|1|G),INTRON(MODIFIER|||||GYG1|processed_transcript|CODING|ENST00000478067|1|G),INTRON(MODIFIER||||279|GYG1|protein_coding|CODING|ENST00000484197|1|G),INTRON(MODIFIER||||109|GYG1|protein_coding|CODING|ENST00000492285|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||264|GYG1|protein_coding|CODING|ENST00000461191|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||59|GYG1|protein_coding|CODING|ENST00000473005|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 148727150 Proband 60 G A . . Gene=GYG1;MT=SNP;MM=CM;CADD=22.9;VMM=41.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S190N|350|GYG1|protein_coding|CODING|ENST00000345003|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S190N|333|GYG1|protein_coding|CODING|ENST00000296048|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S190N|279|GYG1|protein_coding|CODING|ENST00000484197|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S186N|264|GYG1|protein_coding|CODING|ENST00000461191|5|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1087|||GYG1|processed_transcript|CODING|ENST00000488851||A),INTRON(MODIFIER||||193|GYG1|protein_coding|CODING|ENST00000483267|4|A),EXON(MODIFIER|||||GYG1|processed_transcript|CODING|ENST00000497528|3|A),EXON(MODIFIER|||||GYG1|processed_transcript|CODING|ENST00000479119|2|A),EXON(MODIFIER|||||GYG1|retained_intron|CODING|ENST00000469873|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 30671813 Proband 60 G A . . Gene=MDC1;MT=SNP;MM=CM;CADD=18.97;VMM=55.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T1716I|2089|MDC1|protein_coding|CODING|ENST00000376406|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|T1452I|1825|MDC1|protein_coding|CODING|ENST00000376405|9|A),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||2089|MDC1|protein_coding|CODING||10|A),DOWNSTREAM(MODIFIER||1412||304|MDC1|protein_coding|CODING|ENST00000417033||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1546|||MDC1|retained_intron|CODING|ENST00000492462||A),INTRON(MODIFIER|||||MDC1-AS1|antisense|NON_CODING|ENST00000442150|1|A),EXON(MODIFIER|||||MDC1|retained_intron|CODING|ENST00000489540|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 30681077 Proband 60 G T . . Gene=MDC1;MT=SNP;MM=CM;CADD=23.8;VMM=55.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F214L|2089|MDC1|protein_coding|CODING|ENST00000376406|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F214L|1825|MDC1|protein_coding|CODING|ENST00000376405|5|T),UPSTREAM(MODIFIER||1386||304|MDC1|protein_coding|CODING|ENST00000417033||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1369|||MDC1|processed_transcript|CODING|ENST00000494654||T),DOWNSTREAM(MODIFIER||116|||MDC1-AS1|antisense|NON_CODING|ENST00000442150||T),DOWNSTREAM(MODIFIER||533||161|MDC1|protein_coding|CODING|ENST00000416571||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||640||125|MDC1|protein_coding|CODING|ENST00000425072||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||680||112|MDC1|protein_coding|CODING|ENST00000422266||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 129513837 Proband 60 A G . . Gene=LAMA2;MT=SNP;MM=CM;CADD=16.57;VMM=52.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|S541G|3122|LAMA2|protein_coding|CODING|ENST00000421865|12|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 129601217 Proband 60 C T . . Gene=LAMA2;MT=SNP;MM=CM;CADD=26.6;VMM=52.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T821M|3122|LAMA2|protein_coding|CODING|ENST00000421865|18|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 35738146 Proband 60 C T . . Gene=GBA2+B724:B745;MT=SNP;MM=CM;CADD=22.6;VMM=74.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R740H|933|GBA2|protein_coding|CODING|ENST00000545786|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R734H|927|GBA2|protein_coding|CODING|ENST00000378103|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R35H|172|GBA2|protein_coding|CODING|ENST00000378088|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R734H|877|GBA2|protein_coding|CODING|ENST00000378094|15|T),DOWNSTREAM(MODIFIER||1145||371|CREB3|protein_coding|CODING|ENST00000353704||T),DOWNSTREAM(MODIFIER||1289|||CREB3|processed_transcript|CODING|ENST00000486056||T),DOWNSTREAM(MODIFIER||218|||GBA2|processed_transcript|CODING|ENST00000488292||T),DOWNSTREAM(MODIFIER||3171|||GBA2|processed_transcript|CODING|ENST00000485259||T),EXON(MODIFIER|||||GBA2|processed_transcript|CODING|ENST00000467252|12|T),EXON(MODIFIER|||||GBA2|processed_transcript|CODING|ENST00000486797|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 35744354 Proband 60 C G . . Gene=GBA2;MT=SNP;MM=CM;CADD=25.4;VMM=74.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q169H|933|GBA2|protein_coding|CODING|ENST00000545786|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q169H|927|GBA2|protein_coding|CODING|ENST00000378103|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q169H|877|GBA2|protein_coding|CODING|ENST00000378094|3|G),UPSTREAM(MODIFIER||4849||431|RGP1|protein_coding|CODING|ENST00000456972||G),UPSTREAM(MODIFIER||2328|||GBA2|processed_transcript|CODING|ENST00000467252||G),UPSTREAM(MODIFIER||4930||391|RGP1|protein_coding|CODING|ENST00000378078||G),UPSTREAM(MODIFIER||4934|||RGP1|retained_intron|CODING|ENST00000496906||G),EXON(MODIFIER|||||GBA2|processed_transcript|CODING|ENST00000485259|1|G),EXON(MODIFIER|||||GBA2|processed_transcript|CODING|ENST00000489025|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420683 Proband 60 C G . . Gene=WWOX;MT=SNP;MM=CNC;CADD=18.19;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|5|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|4|G),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|G),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|G),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|3|G),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|5|G),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420709 Proband 60 C G . . Gene=WWOX;MT=SNP;MM=CNC;CADD=18.47;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|5|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|4|G),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|G),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|G),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|3|G),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|5|G),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420775 Proband 60 G A . . Gene=WWOX;MT=SNP;MM=CNC;CADD=22.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A179T|414|WWOX|protein_coding|CODING|ENST00000566780|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A179T|363|WWOX|protein_coding|CODING|ENST00000408984|6|A),UTR_3_PRIME(MODIFIER||277070||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|A),UTR_3_PRIME(MODIFIER||277070||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|A),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|A),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|A),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|A),EXON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420787 Proband 60 G A . . Gene=WWOX;MT=SNP;MM=CNC;CADD=27.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D183N|414|WWOX|protein_coding|CODING|ENST00000566780|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D183N|363|WWOX|protein_coding|CODING|ENST00000408984|6|A),UTR_3_PRIME(MODIFIER||277082||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|A),UTR_3_PRIME(MODIFIER||277082||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|A),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|A),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|A),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|A),EXON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420794 Proband 60 C T . . Gene=WWOX;MT=SNP;MM=CNC;CADD=24.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A185V|414|WWOX|protein_coding|CODING|ENST00000566780|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A185V|363|WWOX|protein_coding|CODING|ENST00000408984|6|T),UTR_3_PRIME(MODIFIER||277089||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|T),UTR_3_PRIME(MODIFIER||277089||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|T),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|T),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|T),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|T),EXON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420854 Proband 60 T A . . Gene=WWOX;MT=SNP;MM=CNC;CADD=18.9;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|A),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|A),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|A),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|A),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|A),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|A),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|A),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420881 Proband 60 TC T . . Gene=WWOX;MT=INDEL;MM=CNC;CADD=18.55;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|T),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|T),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|T),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|T),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|T),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|T),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|T),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420882 Proband 60 C T . . Gene=WWOX;MT=SNP;MM=CNC;CADD=18.18;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|T),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|T),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|T),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|T),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|T),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|T),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|T),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420886 Proband 60 C G . . Gene=WWOX;MT=SNP;MM=CNC;CADD=17.44;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|G),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|G),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|G),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|G),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|G),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420890 Proband 60 T C . . Gene=WWOX;MT=SNP;MM=CNC;CADD=17.48;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|C),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|C),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|C),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|C),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|C),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|C),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|C),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 78420904 Proband 60 C G . . Gene=WWOX;MT=SNP;MM=CNC;CADD=18.28;VMM=0;EFF=INTRON(MODIFIER||||414|WWOX|protein_coding|CODING|ENST00000566780|6|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000569332|5|G),INTRON(MODIFIER||||311|WWOX|protein_coding|CODING|ENST00000402655|4|G),INTRON(MODIFIER||||234|WWOX|protein_coding|CODING|ENST00000406884|5|G),INTRON(MODIFIER||||213|WWOX|protein_coding|CODING|ENST00000539474|4|G),INTRON(MODIFIER||||45|WWOX|nonsense_mediated_decay|CODING|ENST00000566662|4|G),INTRON(MODIFIER||||363|WWOX|protein_coding|CODING|ENST00000408984|6|G),INTRON(MODIFIER|||||WWOX|processed_transcript|CODING|ENST00000562639|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33979917 Proband 61 T C . . Gene=CSMD2;MT=SNP;MM=CM;CADD=21.6;VMM=41.03;EFF=UTR_3_PRIME(MODIFIER||5201||3631|CSMD2|protein_coding|CODING|ENST00000373381|71|C),UTR_3_PRIME(MODIFIER||5201||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|70|C),UPSTREAM(MODIFIER||1574|||RP4-580O19.2|processed_pseudogene|NON_CODING|ENST00000424879||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34286166 Proband 61 C A . . Gene=CSMD2;MT=SNP;MM=CM;CADD=16.4;VMM=41.03;EFF=UPSTREAM(MODIFIER||757|||CSMD2|processed_transcript|CODING|ENST00000471438||A),INTRON(MODIFIER||||3631|CSMD2|protein_coding|CODING|ENST00000373381|7|A),INTRON(MODIFIER||||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 236717941 Proband 61 C T . . Gene=HEATR1;MT=SNP;MM=CM;CADD=23.3;VMM=39.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S2012N|2144|HEATR1|protein_coding|CODING|ENST00000366582|42|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S1931N|2063|HEATR1|protein_coding|CODING|ENST00000366581|41|T),UPSTREAM(MODIFIER||4361|||RP11-385F5.4|antisense|NON_CODING|ENST00000433131||T),DOWNSTREAM(MODIFIER||1660||359|LGALS8|protein_coding|CODING|ENST00000526589||T),DOWNSTREAM(MODIFIER||4945||359|LGALS8|protein_coding|CODING|ENST00000450372||T),DOWNSTREAM(MODIFIER||3631||317|LGALS8|protein_coding|CODING|ENST00000366584||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 236724722 Proband 61 C T . . Gene=HEATR1;MT=SNP;MM=CM;CADD=14.83;VMM=39.44;EFF=INTRON(MODIFIER||||2144|HEATR1|protein_coding|CODING|ENST00000366582|32|T),INTRON(MODIFIER||||2063|HEATR1|protein_coding|CODING|ENST00000366581|31|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70889114 Proband 61 G T . . Gene=HYDIN;MT=SNP;MM=CM;CADD=24.6;VMM=32.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F4120L|5121|HYDIN|protein_coding|CODING|ENST00000393567|73|T),UTR_3_PRIME(MODIFIER||10134||48|HYDIN|nonsense_mediated_decay|CODING|ENST00000378856|8|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2397|||RNU6ATAC25P|snRNA|NON_CODING|ENST00000408798||T),DOWNSTREAM(MODIFIER||2506||42|HYDIN|nonsense_mediated_decay|CODING|ENST00000546257||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70900170 Proband 61 C T . . Gene=HYDIN;MT=SNP;MM=CM;CADD=12.23;VMM=32.86;EFF=SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q3791|5121|HYDIN|protein_coding|CODING|ENST00000393567|67|T),SYNONYMOUS_CODING(LOW|SILENT|caG/caA|Q10|48|HYDIN|nonsense_mediated_decay|CODING|ENST00000378856|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1940|||SNORD112|snoRNA|NON_CODING|ENST00000515891||T),UPSTREAM(MODIFIER||3097||42|HYDIN|nonsense_mediated_decay|CODING|ENST00000546257||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 21369548 Proband 61 A T . . Gene=P2RX6;MT=SNP;MM=CM;CADD=36;VMM=47.53;EFF=STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K29*|441|P2RX6|protein_coding|CODING|ENST00000413302|1|T),STOP_GAINED+SPLICE_SITE_REGION(HIGH|NONSENSE|Aag/Tag|K19*|70|P2RX6|protein_coding|CODING|ENST00000402329|1|T),STOP_GAINED+SPLICE_SITE_REGION(HIGH|NONSENSE|Aag/Tag|K29*|80|P2RX6|nonsense_mediated_decay|CODING|ENST00000442475|1|T),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K19*|431|P2RX6|protein_coding|CODING|ENST00000336296|1|T),STOP_GAINED+SPLICE_SITE_REGION(HIGH|NONSENSE|Aag/Tag|K29*|415|P2RX6|protein_coding|CODING|ENST00000401443|1|T),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K26*|119|P2RX6|nonsense_mediated_decay|CODING|ENST00000452228|1|T|WARNING_TRANSCRIPT_NO_START_CODON),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K25*|130|P2RX6|nonsense_mediated_decay|CODING|ENST00000432930|1|T|WARNING_TRANSCRIPT_NO_START_CODON),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K24*|101|P2RX6|nonsense_mediated_decay|CODING|ENST00000422210|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||70||388|P2RX6|protein_coding|CODING|ENST00000443995|1|T),UPSTREAM(MODIFIER||972|||TUBA3FP|processed_transcript|NON_CODING|ENST00000422086||T),UPSTREAM(MODIFIER||967|||TUBA3FP|processed_transcript|NON_CODING|ENST00000292748||T),DOWNSTREAM(MODIFIER||4917|||THAP7-AS1|antisense|NON_CODING|ENST00000452284||T),INTRON(MODIFIER|||||P2RX6|processed_transcript|CODING|ENST00000591411|1|T),EXON(MODIFIER|||||P2RX6|retained_intron|CODING|ENST00000469722|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 21370023 Proband 61 A T . . Gene=P2RX6;MT=SNP;MM=CM;CADD=11.99;VMM=47.53;EFF=UPSTREAM(MODIFIER||1447|||TUBA3FP|processed_transcript|NON_CODING|ENST00000422086||T),UPSTREAM(MODIFIER||1442|||TUBA3FP|processed_transcript|NON_CODING|ENST00000292748||T),INTRON(MODIFIER||||441|P2RX6|protein_coding|CODING|ENST00000413302|1|T),INTRON(MODIFIER|||||P2RX6|processed_transcript|CODING|ENST00000591411|1|T),INTRON(MODIFIER||||70|P2RX6|protein_coding|CODING|ENST00000402329|1|T),INTRON(MODIFIER||||80|P2RX6|nonsense_mediated_decay|CODING|ENST00000442475|1|T),INTRON(MODIFIER||||431|P2RX6|protein_coding|CODING|ENST00000336296|1|T),INTRON(MODIFIER||||415|P2RX6|protein_coding|CODING|ENST00000401443|1|T),INTRON(MODIFIER|||||P2RX6|retained_intron|CODING|ENST00000469722|1|T),INTRON(MODIFIER||||119|P2RX6|nonsense_mediated_decay|CODING|ENST00000452228|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||388|P2RX6|protein_coding|CODING|ENST00000443995|1|T),INTRON(MODIFIER||||130|P2RX6|nonsense_mediated_decay|CODING|ENST00000432930|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||101|P2RX6|nonsense_mediated_decay|CODING|ENST00000422210|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195481129 Proband 61 C A . . Gene=MUC4;MT=SNP;MM=CM;CADD=50;VMM=81.5;EFF=STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E5095*|5412|MUC4|protein_coding|CODING|ENST00000463781|19|A),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E859*|1176|MUC4|protein_coding|CODING|ENST00000346145|18|A),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E808*|1125|MUC4|protein_coding|CODING|ENST00000349607|17|A),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E5043*|5360|MUC4|protein_coding|CODING|ENST00000475231|18|A),UTR_3_PRIME(MODIFIER||16077||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466|17|A),UTR_3_PRIME(MODIFIER||16077||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251|18|A),UTR_3_PRIME(MODIFIER||16077||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455|17|A),UTR_3_PRIME(MODIFIER||12462||4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|18|A),UTR_3_PRIME(MODIFIER||16077||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|19|A),UTR_3_PRIME(MODIFIER||12428||4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|18|A),UTR_3_PRIME(MODIFIER||16077||4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|19|A),UTR_3_PRIME(MODIFIER||12462||4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|19|A),UTR_3_PRIME(MODIFIER||12462||4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|18|A),UPSTREAM(MODIFIER||264|||MUC4|retained_intron|CODING|ENST00000464234||A),UPSTREAM(MODIFIER||1738|||MUC4|retained_intron|CODING|ENST00000467235||A),UPSTREAM(MODIFIER||1155|||MUC4|retained_intron|CODING|ENST00000469992||A),INTRON(MODIFIER||||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407|17|A),INTRON(MODIFIER||||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861|18|A),INTRON(MODIFIER||||5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|18|A),INTRON(MODIFIER||||4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 195506428 Proband 61 G A . . Gene=MUC4;MT=SNP;MM=CM;CADD=13.64;VMM=81.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|5412|MUC4|protein_coding|CODING|ENST00000463781|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|5070|MUC4|nonsense_mediated_decay|CODING|ENST00000478156|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4442|MUC4|nonsense_mediated_decay|CODING|ENST00000462323|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000466475|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4444|MUC4|nonsense_mediated_decay|CODING|ENST00000470451|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|5360|MUC4|protein_coding|CODING|ENST00000475231|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4400|MUC4|nonsense_mediated_decay|CODING|ENST00000477086|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4510|MUC4|nonsense_mediated_decay|CODING|ENST00000477756|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4430|MUC4|nonsense_mediated_decay|CODING|ENST00000479406|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S4008L|4458|MUC4|nonsense_mediated_decay|CODING|ENST00000480843|2|A),UPSTREAM(MODIFIER||747||173|MUC4|nonsense_mediated_decay|CODING|ENST00000308466||A),UPSTREAM(MODIFIER||747||143|MUC4|nonsense_mediated_decay|CODING|ENST00000339251||A),UPSTREAM(MODIFIER||747||143|MUC4|nonsense_mediated_decay|CODING|ENST00000392407||A),UPSTREAM(MODIFIER||747||143|MUC4|nonsense_mediated_decay|CODING|ENST00000415455||A),UPSTREAM(MODIFIER||747||163|MUC4|nonsense_mediated_decay|CODING|ENST00000448861||A),INTRON(MODIFIER||||1176|MUC4|protein_coding|CODING|ENST00000346145|1|A),INTRON(MODIFIER||||1125|MUC4|protein_coding|CODING|ENST00000349607|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 39190122 Proband 62 A G . . Gene=DNAL4,SUN2;MT=SNP;MM=DN;CADD=17.98;VMM=0;EFF=UTR_5_PRIME(MODIFIER||11386||105|DNAL4|protein_coding|CODING|ENST00000216068|1|G),UTR_5_PRIME(MODIFIER||41489||717|SUN2|protein_coding|CODING|ENST00000406622|1|G),UTR_5_PRIME(MODIFIER||11386||68|DNAL4|protein_coding|CODING|ENST00000406199|1|G),EXON(MODIFIER|||||DNAL4|processed_transcript|CODING|ENST00000486019|1|G),EXON(MODIFIER|||||DNAL4|processed_transcript|CODING|ENST00000475512|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 15615945 Proband 62 CA C . . Gene=FBXL7;MT=INDEL;MM=DN;CADD=16.18;VMM=0;EFF=UPSTREAM(MODIFIER||145||479|FBXL7|protein_coding|CODING|ENST00000329673||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||491|FBXL7|protein_coding|CODING|ENST00000504595|1|C),INTRON(MODIFIER||||444|FBXL7|protein_coding|CODING|ENST00000510662|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 100275036 Proband 62 A C . . Gene=GNB2;MT=SNP;MM=DN;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|340|GNB2|protein_coding|CODING|ENST00000303210|5|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|250|GNB2|protein_coding|CODING|ENST00000451587|5|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K45Q|296|GNB2|protein_coding|CODING|ENST00000436220|4|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K45Q|296|GNB2|protein_coding|CODING|ENST00000424361|4|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|340|GNB2|protein_coding|CODING|ENST00000393926|5|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|231|GNB2|protein_coding|CODING|ENST00000431068|5|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|151|GNB2|protein_coding|CODING|ENST00000412215|5|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aag/Cag|K89Q|340|GNB2|protein_coding|CODING|ENST00000393924|4|C),SPLICE_SITE_REGION(LOW||||240|GNB2|protein_coding|CODING|ENST00000419828|2|C),SPLICE_SITE_REGION+EXON(LOW|||||GNB2|retained_intron|CODING|ENST00000480159|3|C),SPLICE_SITE_REGION+EXON(LOW|||||GNB2|retained_intron|CODING|ENST00000469287|1|C),SPLICE_SITE_REGION+EXON(LOW|||||GNB2|retained_intron|CODING|ENST00000470354|1|C),UTR_5_PRIME(MODIFIER||118||240|GNB2|protein_coding|CODING|ENST00000419828|2|C),DOWNSTREAM(MODIFIER||2094||1035|GIGYF1|protein_coding|CODING|ENST00000275732||C),INTRON(MODIFIER||||240|GNB2|protein_coding|CODING|ENST00000427895|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 179068623 Proband 62 A C . . Gene=ABL2;MT=SNP;MM=CM;CADD=20.2;VMM=32.52;EFF=UTR_3_PRIME(MODIFIER||8230||1182|ABL2|protein_coding|CODING|ENST00000502732|12|C),UTR_3_PRIME(MODIFIER||8230||1146|ABL2|protein_coding|CODING|ENST00000408940|11|C),DOWNSTREAM(MODIFIER||3492||397|TOR3A|protein_coding|CODING|ENST00000367627||C),DOWNSTREAM(MODIFIER||1465||336|TOR3A|protein_coding|CODING|ENST00000352445||C),DOWNSTREAM(MODIFIER||4560||1064|ABL2|protein_coding|CODING|ENST00000344730||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 179112168 Proband 62 C T . . Gene=ABL2;MT=SNP;MM=CM;CADD=14.39;VMM=32.52;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G4|1146|ABL2|protein_coding|CODING|ENST00000408940|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G4|1064|ABL2|protein_coding|CODING|ENST00000344730|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G4|1167|ABL2|protein_coding|CODING|ENST00000512653|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G4|1043|ABL2|protein_coding|CODING|ENST00000504405|1|T),INTRON(MODIFIER||||1182|ABL2|protein_coding|CODING|ENST00000502732|1|T),INTRON(MODIFIER||||1161|ABL2|protein_coding|CODING|ENST00000367623|1|T),INTRON(MODIFIER||||1058|ABL2|protein_coding|CODING|ENST00000507173|1|T),INTRON(MODIFIER||||1079|ABL2|protein_coding|CODING|ENST00000511413|1|T),INTRON(MODIFIER||||542|ABL2|protein_coding|CODING|ENST00000392043|1|T),EXON(MODIFIER|||||ABL2|retained_intron|CODING|ENST00000509520|1|T),EXON(MODIFIER|||||ABL2|retained_intron|CODING|ENST00000504324|1|T),EXON(MODIFIER|||||ABL2|retained_intron|CODING|ENST00000508127|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216074236 Proband 62 C T . . Gene=USH2A;MT=SNP;MM=CM;CADD=24.4;VMM=84.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2438M|5226|USH2A|protein_coding|CODING|ENST00000366943|39|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2438M|5202|USH2A|protein_coding|CODING|ENST00000307340|39|T),EXON(MODIFIER|||||RP5-1111A8.3|antisense|NON_CODING|ENST00000414995|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216138719 Proband 62 G A . . Gene=USH2A;MT=SNP;MM=CM;CADD=25.7;VMM=84.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R2354C|5226|USH2A|protein_coding|CODING|ENST00000366943|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R2354C|5202|USH2A|protein_coding|CODING|ENST00000307340|37|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 74934815 Proband 62 A C . . Gene=FAM149B1;MT=SNP;MM=CM;CADD=12.16;VMM=30.3;EFF=UPSTREAM(MODIFIER||2815||468|FAM149B1|protein_coding|CODING|ENST00000372955||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||582|FAM149B1|protein_coding|CODING|ENST00000242505|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 75000741 Proband 62 AGGCAGACCAGTCTCT A . . Gene=FAM149B1;MT=INDEL;MM=CM;CADD=22.9;VMM=30.3;EFF=CODON_DELETION(MODERATE||ggcagaccagtctct/|GRPVS572|582|FAM149B1|protein_coding|CODING|ENST00000242505|14|A),CODON_DELETION(MODERATE||ggcagaccagtctct/|GRPVS325|335|FAM149B1|protein_coding|CODING|ENST00000445951|8|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1840||260|DNAJC9|protein_coding|CODING|ENST00000372950||A),INTRON(MODIFIER|||||DNAJC9|processed_transcript|CODING|ENST00000469143|2|A),INTRON(MODIFIER|||||DNAJC9|processed_transcript|CODING|ENST00000453189|2|A),EXON(MODIFIER|||||FAM149B1|retained_intron|CODING|ENST00000468462|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 76741585 Proband 62 A G . . Gene=KAT6B;MT=SNP;MM=CM;CADD=21.2;VMM=33.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M758V|2073|KAT6B|protein_coding|CODING|ENST00000287239|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M466V|1781|KAT6B|protein_coding|CODING|ENST00000372725|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M466V|1781|KAT6B|protein_coding|CODING|ENST00000372724|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M466V|1781|KAT6B|protein_coding|CODING|ENST00000372714|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M575V|1890|KAT6B|protein_coding|CODING|ENST00000372711|10|G),EXON(MODIFIER|||||KAT6B|processed_transcript|CODING|ENST00000490365|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 76784638 Proband 62 G A . . Gene=KAT6B;MT=SNP;MM=CM;CADD=14.12;VMM=33.49;EFF=UPSTREAM(MODIFIER||629|||RP11-77G23.5|antisense|NON_CODING|ENST00000436608||A),INTRON(MODIFIER||||2073|KAT6B|protein_coding|CODING|ENST00000287239|16|A),INTRON(MODIFIER|||||RP11-77G23.2|antisense|NON_CODING|ENST00000413431|1|A),INTRON(MODIFIER||||1781|KAT6B|protein_coding|CODING|ENST00000372725|15|A),INTRON(MODIFIER||||1781|KAT6B|protein_coding|CODING|ENST00000372724|16|A),INTRON(MODIFIER||||1781|KAT6B|protein_coding|CODING|ENST00000372714|15|A),INTRON(MODIFIER||||1890|KAT6B|protein_coding|CODING|ENST00000372711|15|A),INTRON(MODIFIER|||||KAT6B|processed_transcript|CODING|ENST00000490365|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 117298516 Proband 62 G A . . Gene=DSCAML1;MT=SNP;MM=CM;CADD=12.41;VMM=45.5;EFF=UTR_3_PRIME(MODIFIER||528||2113|DSCAML1|protein_coding|CODING|ENST00000321322|33|A),UTR_3_PRIME(MODIFIER||528||1843|DSCAML1|protein_coding|CODING|ENST00000527706|31|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 117299471 Proband 62 C G . . Gene=DSCAML1;MT=SNP;MM=CM;CADD=33;VMM=45.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R1972P|2113|DSCAML1|protein_coding|CODING|ENST00000321322|33|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R1702P|1843|DSCAML1|protein_coding|CODING|ENST00000527706|31|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119057994 Proband 62 C T . . Gene=PDZD3;MT=SNP;MM=CM;CADD=33;VMM=33.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R182W|571|PDZD3|protein_coding|CODING|ENST00000392817|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R103W|492|PDZD3|protein_coding|CODING|ENST00000525131|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R182W|571|PDZD3|protein_coding|CODING|ENST00000531114|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R116W|505|PDZD3|protein_coding|CODING|ENST00000355547|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R116W|491|PDZD3|protein_coding|CODING|ENST00000322712|5|T),DOWNSTREAM(MODIFIER||3271||975|NLRX1|protein_coding|CODING|ENST00000292199||T),DOWNSTREAM(MODIFIER||2971||210|CCDC153|protein_coding|CODING|ENST00000415318||T),DOWNSTREAM(MODIFIER||3273||975|NLRX1|protein_coding|CODING|ENST00000409991||T),DOWNSTREAM(MODIFIER||3271||921|NLRX1|protein_coding|CODING|ENST00000409265||T),DOWNSTREAM(MODIFIER||3269||975|NLRX1|protein_coding|CODING|ENST00000409109||T),DOWNSTREAM(MODIFIER||3269||921|NLRX1|protein_coding|CODING|ENST00000525863||T),DOWNSTREAM(MODIFIER||728|||PDZD3|retained_intron|CODING|ENST00000527308||T),DOWNSTREAM(MODIFIER||675|||PDZD3|retained_intron|CODING|ENST00000526279||T),DOWNSTREAM(MODIFIER||871|||PDZD3|retained_intron|CODING|ENST00000526836||T),DOWNSTREAM(MODIFIER||819|||PDZD3|retained_intron|CODING|ENST00000529573||T),DOWNSTREAM(MODIFIER||2353||210|CCDC153|protein_coding|CODING|ENST00000503566||T),DOWNSTREAM(MODIFIER||2965|||CCDC153|retained_intron|CODING|ENST00000375140||T),INTRON(MODIFIER||||119|PDZD3|nonsense_mediated_decay|CODING|ENST00000533688|4|T),INTRON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000528730|3|T),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000527951|5|T),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000534790|4|T),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000529098|5|T),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000527028|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119058966 Proband 62 G A . . Gene=PDZD3;MT=SNP;MM=CM;CADD=9.782;VMM=33.01;EFF=DOWNSTREAM(MODIFIER||4243||975|NLRX1|protein_coding|CODING|ENST00000292199||A),DOWNSTREAM(MODIFIER||1999||210|CCDC153|protein_coding|CODING|ENST00000415318||A),DOWNSTREAM(MODIFIER||4245||975|NLRX1|protein_coding|CODING|ENST00000409991||A),DOWNSTREAM(MODIFIER||4243||921|NLRX1|protein_coding|CODING|ENST00000409265||A),DOWNSTREAM(MODIFIER||4241||975|NLRX1|protein_coding|CODING|ENST00000409109||A),DOWNSTREAM(MODIFIER||4241||921|NLRX1|protein_coding|CODING|ENST00000525863||A),DOWNSTREAM(MODIFIER||1700|||PDZD3|retained_intron|CODING|ENST00000527308||A),DOWNSTREAM(MODIFIER||1647|||PDZD3|retained_intron|CODING|ENST00000526279||A),DOWNSTREAM(MODIFIER||599|||PDZD3|retained_intron|CODING|ENST00000527951||A),DOWNSTREAM(MODIFIER||227||119|PDZD3|nonsense_mediated_decay|CODING|ENST00000533688||A),DOWNSTREAM(MODIFIER||1843|||PDZD3|retained_intron|CODING|ENST00000526836||A),DOWNSTREAM(MODIFIER||120|||PDZD3|retained_intron|CODING|ENST00000528730||A),DOWNSTREAM(MODIFIER||1791|||PDZD3|retained_intron|CODING|ENST00000529573||A),DOWNSTREAM(MODIFIER||1381||210|CCDC153|protein_coding|CODING|ENST00000503566||A),DOWNSTREAM(MODIFIER||1993|||CCDC153|retained_intron|CODING|ENST00000375140||A),INTRON(MODIFIER||||571|PDZD3|protein_coding|CODING|ENST00000392817|4|A),INTRON(MODIFIER||||492|PDZD3|protein_coding|CODING|ENST00000525131|7|A),INTRON(MODIFIER||||571|PDZD3|protein_coding|CODING|ENST00000531114|5|A),INTRON(MODIFIER||||505|PDZD3|protein_coding|CODING|ENST00000355547|7|A),INTRON(MODIFIER||||491|PDZD3|protein_coding|CODING|ENST00000322712|7|A),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000534790|6|A),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000529098|6|A),EXON(MODIFIER|||||PDZD3|retained_intron|CODING|ENST00000527028|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26666686 Proband 62 A C . . Gene=TNFAIP1;MT=SNP;MM=CM;CADD=25.3;VMM=46.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|316|TNFAIP1|protein_coding|CODING|ENST00000226225|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|106|TNFAIP1|protein_coding|CODING|ENST00000578158|2|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T47P|124|TNFAIP1|protein_coding|CODING|ENST00000582302|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4211||158|IFT20|protein_coding|CODING|ENST00000585089||C),UPSTREAM(MODIFIER||4221||114|IFT20|protein_coding|CODING|ENST00000579419||C),UPSTREAM(MODIFIER||4191||148|IFT20|protein_coding|CODING|ENST00000357896||C),UPSTREAM(MODIFIER||4220||132|IFT20|protein_coding|CODING|ENST00000395418||C),UPSTREAM(MODIFIER||4221||132|IFT20|protein_coding|CODING|ENST00000585313||C),UPSTREAM(MODIFIER||4225||141|IFT20|protein_coding|CODING|ENST00000578122||C),UPSTREAM(MODIFIER||4220||132|IFT20|protein_coding|CODING|ENST00000578985||C),UPSTREAM(MODIFIER||4190|||IFT20|retained_intron|CODING|ENST00000582797||C),UPSTREAM(MODIFIER||4205|||IFT20|retained_intron|CODING|ENST00000322326||C),UPSTREAM(MODIFIER||4216||84|IFT20|protein_coding|CODING|ENST00000577498||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4171|||IFT20|retained_intron|CODING|ENST00000580357||C),UPSTREAM(MODIFIER||4182|||IFT20|retained_intron|CODING|ENST00000578547||C),UPSTREAM(MODIFIER||4188|||IFT20|retained_intron|CODING|ENST00000580991||C),UPSTREAM(MODIFIER||746||156|TNFAIP1|protein_coding|CODING|ENST00000577535||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||212|TNFAIP1|protein_coding|CODING|ENST00000544907|1|C),INTRON(MODIFIER|||||TNFAIP1|processed_transcript|CODING|ENST00000583213|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26669405 Proband 62 C A . . Gene=TNFAIP1;MT=SNP;MM=CM;CADD=15.76;VMM=46.7;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G217|316|TNFAIP1|protein_coding|CODING|ENST00000226225|6|A),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G113|212|TNFAIP1|protein_coding|CODING|ENST00000544907|5|A),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G113|156|TNFAIP1|protein_coding|CODING|ENST00000577535|4|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4254||367|POLDIP2|protein_coding|CODING|ENST00000540200||A),DOWNSTREAM(MODIFIER||1954||106|TNFAIP1|protein_coding|CODING|ENST00000578158||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1901||124|TNFAIP1|protein_coding|CODING|ENST00000582302||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4798|||POLDIP2|processed_transcript|CODING|ENST00000003607||A),EXON(MODIFIER|||||TNFAIP1|processed_transcript|CODING|ENST00000583213|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26674823 Proband 62 G A . . Gene=POLDIP2;MT=SNP;MM=CM;CADD=19.69;VMM=48.25;EFF=UTR_3_PRIME(MODIFIER||320||367|POLDIP2|protein_coding|CODING|ENST00000540200|12|A),DOWNSTREAM(MODIFIER||788||316|TNFAIP1|protein_coding|CODING|ENST00000226225||A),DOWNSTREAM(MODIFIER||2542||212|TNFAIP1|protein_coding|CODING|ENST00000544907||A),DOWNSTREAM(MODIFIER||3287|||TNFAIP1|processed_transcript|CODING|ENST00000583213||A),EXON(MODIFIER|||||POLDIP2|processed_transcript|CODING|ENST00000003607|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26674851 Proband 62 G A . . Gene=POLDIP2;MT=SNP;MM=CM;CADD=20.5;VMM=48.25;EFF=UTR_3_PRIME(MODIFIER||292||367|POLDIP2|protein_coding|CODING|ENST00000540200|12|A),DOWNSTREAM(MODIFIER||816||316|TNFAIP1|protein_coding|CODING|ENST00000226225||A),DOWNSTREAM(MODIFIER||2570||212|TNFAIP1|protein_coding|CODING|ENST00000544907||A),DOWNSTREAM(MODIFIER||3315|||TNFAIP1|processed_transcript|CODING|ENST00000583213||A),EXON(MODIFIER|||||POLDIP2|processed_transcript|CODING|ENST00000003607|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 26068333 Proband 62 ATATT A . . Gene=ASXL2;MT=INDEL;MM=CM;CADD=11.74;VMM=31.48;EFF=INTRON(MODIFIER||||1435|ASXL2|protein_coding|CODING|ENST00000435504|2|A),INTRON(MODIFIER||||1407|ASXL2|protein_coding|CODING|ENST00000336112|2|A),INTRON(MODIFIER||||918|ASXL2|protein_coding|CODING|ENST00000272341|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 26101055 Proband 62 A C . . Gene=ASXL2;MT=SNP;MM=CM;CADD=24.8;VMM=31.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W13G|1435|ASXL2|protein_coding|CODING|ENST00000435504|1|C),UTR_5_PRIME(MODIFIER||32650||1407|ASXL2|protein_coding|CODING|ENST00000336112|1|C),UTR_5_PRIME(MODIFIER||118546||918|ASXL2|protein_coding|CODING|ENST00000272341|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 36960409 Proband 62 T G . . Gene=CACNG2;MT=SNP;MM=CM;CADD=25.3;VMM=32.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T321P|323|CACNG2|protein_coding|CODING|ENST00000300105|4|G),NEXT_PROT[modified-residue:Phosphothreonine](MODERATE||||323|CACNG2|protein_coding|CODING||4|G),UPSTREAM(MODIFIER||1447|||RP5-1119A7.17|sense_overlapping|NON_CODING|ENST00000562756||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 37098373 Proband 62 T G . . Gene=CACNG2;MT=SNP;MM=CM;CADD=11.92;VMM=32.75;EFF=UPSTREAM(MODIFIER||1590|||RP1-293L6.1|antisense|NON_CODING|ENST00000430281||G),INTRON(MODIFIER||||323|CACNG2|protein_coding|CODING|ENST00000300105|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 57743503 Proband 62 A G . . Gene=SLMAP;MT=SNP;MM=CM;CADD=22;VMM=35.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N42S|828|SLMAP|protein_coding|CODING|ENST00000428312|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N42S|811|SLMAP|protein_coding|CODING|ENST00000295951|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N42S|811|SLMAP|protein_coding|CODING|ENST00000295952|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N42S|506|SLMAP|protein_coding|CODING|ENST00000383718|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N42S|790|SLMAP|protein_coding|CODING|ENST00000449503|1|G),UTR_5_PRIME(MODIFIER||139105||271|SLMAP|protein_coding|CODING|ENST00000416870|1|G),DOWNSTREAM(MODIFIER||709|||SLMAP|processed_transcript|CODING|ENST00000481846||G),EXON(MODIFIER|||||SLMAP|retained_intron|CODING|ENST00000467901|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 57904165 Proband 62 T A . . Gene=SLMAP;MT=SNP;MM=CM;CADD=14.25;VMM=35.26;EFF=UTR_3_PRIME(MODIFIER||1283||315|SLMAP|protein_coding|CODING|ENST00000438794|7|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1283||271|SLMAP|protein_coding|CODING|ENST00000416870||A),DOWNSTREAM(MODIFIER||1467|||SLMAP|retained_intron|CODING|ENST00000476471||A),INTRON(MODIFIER||||828|SLMAP|protein_coding|CODING|ENST00000428312|20|A),INTRON(MODIFIER||||811|SLMAP|protein_coding|CODING|ENST00000295951|20|A),INTRON(MODIFIER||||811|SLMAP|protein_coding|CODING|ENST00000295952|19|A),INTRON(MODIFIER||||790|SLMAP|protein_coding|CODING|ENST00000449503|18|A),INTRON(MODIFIER||||432|SLMAP|protein_coding|CODING|ENST00000416658|8|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||296|SLMAP|protein_coding|CODING|ENST00000442599|6|A),INTRON(MODIFIER||||408|SLMAP|protein_coding|CODING|ENST00000417128|8|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||362|SLMAP|protein_coding|CODING|ENST00000495364|8|A),INTRON(MODIFIER||||318|SLMAP|protein_coding|CODING|ENST00000494088|7|A),INTRON(MODIFIER||||64|SLMAP|protein_coding|CODING|ENST00000460223|1|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||SLMAP|retained_intron|CODING|ENST00000497084|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 112723994 Proband 62 T A . . Gene=C3orf17;MT=SNP;MM=CM;CADD=10.67;VMM=38.21;EFF=UTR_3_PRIME(MODIFIER||389||567|C3orf17|protein_coding|CODING|ENST00000314400|9|A),UTR_3_PRIME(MODIFIER||389||497|C3orf17|protein_coding|CODING|ENST00000383675|7|A),UTR_3_PRIME(MODIFIER||8881||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000472637|8|A),UTR_3_PRIME(MODIFIER||389||431|C3orf17|protein_coding|CODING|ENST00000393857|8|A),UTR_3_PRIME(MODIFIER||8881||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000469809|4|A),DOWNSTREAM(MODIFIER||3805||284|GTPBP8|protein_coding|CODING|ENST00000383678||A),DOWNSTREAM(MODIFIER||3212||251|GTPBP8|protein_coding|CODING|ENST00000383677||A),DOWNSTREAM(MODIFIER||4187||121|GTPBP8|nonsense_mediated_decay|CODING|ENST00000295864||A),DOWNSTREAM(MODIFIER||4228||139|GTPBP8|nonsense_mediated_decay|CODING|ENST00000488781||A),DOWNSTREAM(MODIFIER||4202||173|GTPBP8|protein_coding|CODING|ENST00000467752||A),DOWNSTREAM(MODIFIER||4203||134|GTPBP8|protein_coding|CODING|ENST00000473129||A),DOWNSTREAM(MODIFIER||29||39|C3orf17|nonsense_mediated_decay|CODING|ENST00000472705||A),DOWNSTREAM(MODIFIER||96||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000469169||A),DOWNSTREAM(MODIFIER||96||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000473284||A),DOWNSTREAM(MODIFIER||175||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000489848||A),DOWNSTREAM(MODIFIER||334||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000462295||A),DOWNSTREAM(MODIFIER||797||238|C3orf17|nonsense_mediated_decay|CODING|ENST00000461381||A),DOWNSTREAM(MODIFIER||3024|||C3orf17|processed_transcript|CODING|ENST00000472762||A),DOWNSTREAM(MODIFIER||3024|||C3orf17|retained_intron|CODING|ENST00000482229||A),INTRON(MODIFIER||||251|GTPBP8|nonsense_mediated_decay|CODING|ENST00000485330|5|A),EXON(MODIFIER|||||C3orf17|retained_intron|CODING|ENST00000486271|8|A),EXON(MODIFIER|||||C3orf17|retained_intron|CODING|ENST00000474311|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 112732195 Proband 62 C T . . Gene=C3orf17;MT=SNP;MM=CM;CADD=34;VMM=38.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E133K|567|C3orf17|protein_coding|CODING|ENST00000314400|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E58K|80|C3orf17|protein_coding|CODING|ENST00000472166|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||12||431|C3orf17|protein_coding|CODING|ENST00000393857|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000472637|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000469169|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000473284|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000462295|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000460410|3|T),UTR_3_PRIME(MODIFIER||680||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000470663|3|T),UTR_3_PRIME(MODIFIER||601||114|C3orf17|nonsense_mediated_decay|CODING|ENST00000496340|4|T),UPSTREAM(MODIFIER||4548|||C3orf17|retained_intron|CODING|ENST00000474311||T),UPSTREAM(MODIFIER||2043|||C3orf17|processed_transcript|CODING|ENST00000472762||T),UPSTREAM(MODIFIER||1812|||C3orf17|retained_intron|CODING|ENST00000482229||T),UPSTREAM(MODIFIER||2073|||C3orf17|retained_intron|CODING|ENST00000464816||T),INTRON(MODIFIER||||251|GTPBP8|nonsense_mediated_decay|CODING|ENST00000485330|5|T),INTRON(MODIFIER||||497|C3orf17|protein_coding|CODING|ENST00000383675|3|T),INTRON(MODIFIER||||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000469809|2|T),INTRON(MODIFIER||||39|C3orf17|nonsense_mediated_decay|CODING|ENST00000472705|1|T),INTRON(MODIFIER||||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000489848|2|T),INTRON(MODIFIER||||238|C3orf17|nonsense_mediated_decay|CODING|ENST00000461381|3|T),INTRON(MODIFIER||||113|C3orf17|nonsense_mediated_decay|CODING|ENST00000496206|3|T),INTRON(MODIFIER||||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000494164|2|T),INTRON(MODIFIER||||36|C3orf17|nonsense_mediated_decay|CODING|ENST00000491121|2|T),EXON(MODIFIER|||||C3orf17|retained_intron|CODING|ENST00000486271|4|T),EXON(MODIFIER|||||C3orf17|processed_transcript|CODING|ENST00000494575|4|T),EXON(MODIFIER|||||C3orf17|retained_intron|CODING|ENST00000494891|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 113375764 Proband 62 G C . . Gene=KIAA2018;MT=SNP;MM=CM;CADD=22.5;VMM=77.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H1589D|2245|KIAA2018|protein_coding|CODING|ENST00000316407|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H1589D|2245|KIAA2018|protein_coding|CODING|ENST00000478658|5|C),INTRON(MODIFIER||||88|KIAA2018|protein_coding|CODING|ENST00000491165|6|C),EXON(MODIFIER|||||KIAA2018|retained_intron|CODING|ENST00000496826|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 113378610 Proband 62 G A . . Gene=KIAA2018;MT=SNP;MM=CM;CADD=26.1;VMM=77.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P640L|2245|KIAA2018|protein_coding|CODING|ENST00000316407|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P640L|2245|KIAA2018|protein_coding|CODING|ENST00000478658|5|A),INTRON(MODIFIER||||88|KIAA2018|protein_coding|CODING|ENST00000491165|6|A),EXON(MODIFIER|||||KIAA2018|retained_intron|CODING|ENST00000496826|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 186515595 Proband 62 C A . . Gene=SORBS2;MT=SNP;MM=CM;CADD=15.71;VMM=37.51;EFF=UPSTREAM(MODIFIER||4606|||SORBS2|retained_intron|CODING|ENST00000478461||A),DOWNSTREAM(MODIFIER||438|||RP11-301L8.2|antisense|NON_CODING|ENST00000411847||A),INTRON(MODIFIER||||1200|SORBS2|protein_coding|CODING|ENST00000355634|21|A),INTRON(MODIFIER||||1004|SORBS2|protein_coding|CODING|ENST00000418609|12|A),INTRON(MODIFIER||||661|SORBS2|protein_coding|CODING|ENST00000448662|18|A),INTRON(MODIFIER||||1100|SORBS2|protein_coding|CODING|ENST00000431808|19|A),INTRON(MODIFIER||||1100|SORBS2|protein_coding|CODING|ENST00000284776|18|A),INTRON(MODIFIER||||824|SORBS2|protein_coding|CODING|ENST00000437304|20|A),INTRON(MODIFIER||||731|SORBS2|protein_coding|CODING|ENST00000319471|20|A),INTRON(MODIFIER||||644|SORBS2|protein_coding|CODING|ENST00000449407|18|A),INTRON(MODIFIER||||666|SORBS2|protein_coding|CODING|ENST00000393528|20|A),INTRON(MODIFIER||||635|SORBS2|protein_coding|CODING|ENST00000319454|19|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 186599686 Proband 62 T G . . Gene=SORBS2;MT=SNP;MM=CM;CADD=20.9;VMM=37.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|1200|SORBS2|protein_coding|CODING|ENST00000355634|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N18T|661|SORBS2|protein_coding|CODING|ENST00000448662|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|731|SORBS2|protein_coding|CODING|ENST00000319471|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|644|SORBS2|protein_coding|CODING|ENST00000449407|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N18T|120|SORBS2|protein_coding|CODING|ENST00000425679|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N18T|119|SORBS2|protein_coding|CODING|ENST00000439049|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N18T|108|SORBS2|protein_coding|CODING|ENST00000451958|5|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|115|SORBS2|protein_coding|CODING|ENST00000414724|5|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|112|SORBS2|protein_coding|CODING|ENST00000419063|6|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|106|SORBS2|protein_coding|CODING|ENST00000420158|6|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|95|SORBS2|protein_coding|CODING|ENST00000457934|5|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|79|SORBS2|protein_coding|CODING|ENST00000431902|5|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|79|SORBS2|protein_coding|CODING|ENST00000435480|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|79|SORBS2|protein_coding|CODING|ENST00000415274|5|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|86|SORBS2|protein_coding|CODING|ENST00000432655|6|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N18T|84|SORBS2|protein_coding|CODING|ENST00000428330|5|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N49T|181|SORBS2|protein_coding|CODING|ENST00000421420|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|70|SORBS2|protein_coding|CODING|ENST00000452351|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|N35T|69|SORBS2|protein_coding|CODING|ENST00000429056|6|G|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||1100|SORBS2|protein_coding|CODING|ENST00000431808|5|G),START_GAINED(LOW||||1100|SORBS2|protein_coding|CODING|ENST00000284776|4|G),START_GAINED(LOW||||92|SORBS2|protein_coding|CODING|ENST00000439914|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||88|SORBS2|protein_coding|CODING|ENST00000444771|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||54|SORBS2|protein_coding|CODING|ENST00000456596|4|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||16335||1100|SORBS2|protein_coding|CODING|ENST00000431808|5|G),UTR_5_PRIME(MODIFIER||16335||1100|SORBS2|protein_coding|CODING|ENST00000284776|4|G),UTR_5_PRIME(MODIFIER||16335||92|SORBS2|protein_coding|CODING|ENST00000439914|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||16335||88|SORBS2|protein_coding|CODING|ENST00000444771|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||16335||54|SORBS2|protein_coding|CODING|ENST00000456596|4|G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3115|||RP11-626E13.1|antisense|NON_CODING|ENST00000447277||G),INTRON(MODIFIER||||824|SORBS2|protein_coding|CODING|ENST00000437304|3|G),INTRON(MODIFIER||||666|SORBS2|protein_coding|CODING|ENST00000393528|4|G),INTRON(MODIFIER||||635|SORBS2|protein_coding|CODING|ENST00000319454|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||99|SORBS2|protein_coding|CODING|ENST00000445343|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||118|SORBS2|protein_coding|CODING|ENST00000430503|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||72|SORBS2|protein_coding|CODING|ENST00000450341|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||67|SORBS2|protein_coding|CODING|ENST00000445115|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||58|SORBS2|protein_coding|CODING|ENST00000457247|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||99|SORBS2|protein_coding|CODING|ENST00000444781|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||8|SORBS2|protein_coding|CODING|ENST00000393523|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||74|SORBS2|protein_coding|CODING|ENST00000421639|5|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||117|SORBS2|protein_coding|CODING|ENST00000451701|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||SORBS2|processed_transcript|CODING|ENST00000478249|3|G),EXON(MODIFIER|||||SORBS2|retained_intron|CODING|ENST00000470685|6|G),EXON(MODIFIER|||||SORBS2|processed_transcript|CODING|ENST00000493709|4|G),EXON(MODIFIER|||||SORBS2|processed_transcript|CODING|ENST00000464975|4|G),EXON(MODIFIER|||||SORBS2|processed_transcript|CODING|ENST00000464819|4|G),EXON(MODIFIER|||||SORBS2|processed_transcript|CODING|ENST00000463104|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 127794383 Proband 62 A T . . Gene=SOGA3;MT=SNP;MM=CM;CADD=13.11;VMM=33.84;EFF=UTR_3_PRIME(MODIFIER||43||947|SOGA3|nonsense_mediated_decay|CODING|ENST00000481848|7|T),UTR_3_PRIME(MODIFIER||43||947|SOGA3|protein_coding|CODING|ENST00000368268|6|T),UTR_3_PRIME(MODIFIER||43||947|SOGA3|protein_coding|CODING|ENST00000556132|7|T),UTR_3_PRIME(MODIFIER||43||290|SOGA3|nonsense_mediated_decay|CODING|ENST00000473298|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||43||96|SOGA3|nonsense_mediated_decay|CODING|ENST00000464495|2|T),UTR_3_PRIME(MODIFIER||43||947|SOGA3|protein_coding|CODING|ENST00000525778|7|T),UTR_3_PRIME(MODIFIER||43||944|SOGA3|protein_coding|CODING|ENST00000465909|7|T),INTRON(MODIFIER|||||SOGA3|processed_transcript|CODING|ENST00000474293|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 127837732 Proband 62 C G . . Gene=SOGA3;MT=SNP;MM=CM;CADD=23.3;VMM=33.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|947|SOGA3|nonsense_mediated_decay|CODING|ENST00000481848|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|947|SOGA3|protein_coding|CODING|ENST00000368268|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|947|SOGA3|protein_coding|CODING|ENST00000556132|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|947|SOGA3|protein_coding|CODING|ENST00000525778|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|944|SOGA3|protein_coding|CODING|ENST00000465909|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A10P|9|SOGA3|protein_coding|CODING|ENST00000467753|3|G|WARNING_TRANSCRIPT_INCOMPLETE),MOTIF[MA0139.1:CTCF](MODIFIER||||||||||G),UPSTREAM(MODIFIER||2868|||C6orf58|processed_transcript|CODING|ENST00000498112||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 41205548 Proband 63 T TA . . Gene=DDX3X;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||tta/ttAa|L461L?|662|DDX3X|protein_coding|CODING|ENST00000399959|13|TA),FRAME_SHIFT(HIGH||tta/ttAa|L445L?|646|DDX3X|protein_coding|CODING|ENST00000457138|12|TA),UTR_3_PRIME(MODIFIER||2041||308|DDX3X|protein_coding|CODING|ENST00000542215|12|TA),UPSTREAM(MODIFIER||420|||RN7SL15P|misc_RNA|NON_CODING|ENST00000582825||TA),INTRON(MODIFIER||||139|DDX3X|protein_coding|CODING|ENST00000441189|5|TA),EXON(MODIFIER|||||DDX3X|processed_transcript|CODING|ENST00000478993|13|TA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 95839470 Proband 63 G A . . Gene=PLCE1;MT=SNP;MM=CM;CADD=21.1;VMM=63.12;EFF=DOWNSTREAM(MODIFIER||2237|||RP11-429H9.4|antisense|NON_CODING|ENST00000438899||A),INTRON(MODIFIER||||2302|PLCE1|protein_coding|CODING|ENST00000260766|2|A),INTRON(MODIFIER||||2302|PLCE1|protein_coding|CODING|ENST00000371380|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 95993887 Proband 63 A G . . Gene=PLCE1;MT=SNP;MM=CM;CADD=23.8;VMM=63.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M678V|2302|PLCE1|protein_coding|CODING|ENST00000260766|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M678V|2302|PLCE1|protein_coding|CODING|ENST00000371380|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M370V|1994|PLCE1|protein_coding|CODING|ENST00000371385|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M370V|1994|PLCE1|protein_coding|CODING|ENST00000371375|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 13402787 Proband 63 C T . . Gene=ARNTL;MT=SNP;MM=CM;CADD=24.6;VMM=36.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P535S|626|ARNTL|protein_coding|CODING|ENST00000403290|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P534S|625|ARNTL|protein_coding|CODING|ENST00000396441|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P534S|625|ARNTL|protein_coding|CODING|ENST00000389707|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P492S|583|ARNTL|protein_coding|CODING|ENST00000401424|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P417S|508|ARNTL|protein_coding|CODING|ENST00000361003|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P491S|582|ARNTL|protein_coding|CODING|ENST00000403510|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P533S|624|ARNTL|protein_coding|CODING|ENST00000403482|12|T),UTR_3_PRIME(MODIFIER||2832||526|ARNTL|protein_coding|CODING|ENST00000389708|18|T),UTR_3_PRIME(MODIFIER||2832||171|ARNTL|nonsense_mediated_decay|CODING|ENST00000524392|5|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4469|||ARNTL|retained_intron|CODING|ENST00000529390||T),EXON(MODIFIER|||||ARNTL|retained_intron|CODING|ENST00000472842|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 13408627 Proband 63 A C . . Gene=ARNTL;MT=SNP;MM=CM;CADD=13.43;VMM=36.95;EFF=UTR_3_PRIME(MODIFIER||324||626|ARNTL|protein_coding|CODING|ENST00000403290|20|C),UTR_3_PRIME(MODIFIER||324||625|ARNTL|protein_coding|CODING|ENST00000396441|19|C),UTR_3_PRIME(MODIFIER||324||625|ARNTL|protein_coding|CODING|ENST00000389707|20|C),UTR_3_PRIME(MODIFIER||324||583|ARNTL|protein_coding|CODING|ENST00000401424|20|C),UTR_3_PRIME(MODIFIER||324||508|ARNTL|protein_coding|CODING|ENST00000361003|18|C),UTR_3_PRIME(MODIFIER||8672||526|ARNTL|protein_coding|CODING|ENST00000389708|20|C),UTR_3_PRIME(MODIFIER||324||582|ARNTL|protein_coding|CODING|ENST00000403510|20|C),UTR_3_PRIME(MODIFIER||324||624|ARNTL|protein_coding|CODING|ENST00000403482|14|C),UTR_3_PRIME(MODIFIER||8672||171|ARNTL|nonsense_mediated_decay|CODING|ENST00000524392|7|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1603||483|BTBD10|protein_coding|CODING|ENST00000530907||C),DOWNSTREAM(MODIFIER||921||475|BTBD10|protein_coding|CODING|ENST00000278174||C),DOWNSTREAM(MODIFIER||944||202|BTBD10|nonsense_mediated_decay|CODING|ENST00000527102||C),DOWNSTREAM(MODIFIER||1622||427|BTBD10|protein_coding|CODING|ENST00000528120||C),EXON(MODIFIER|||||ARNTL|retained_intron|CODING|ENST00000472842|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 65545377 Proband 63 C T . . Gene=AP5B1;MT=SNP;MM=CM;CADD=24.7;VMM=90.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V863M|878|AP5B1|protein_coding|CODING|ENST00000532090|2|T),EXON(MODIFIER|||||AP001266.1|pseudogene|NON_CODING|ENST00000316846|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 65545610 Proband 63 A G . . Gene=AP5B1;MT=SNP;MM=CM;CADD=26.9;VMM=90.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTc/cCc|L785P|878|AP5B1|protein_coding|CODING|ENST00000532090|2|G),EXON(MODIFIER|||||AP001266.1|pseudogene|NON_CODING|ENST00000316846|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 44581718 Proband 63 C T . . Gene=PARVG;MT=SNP;MM=CM;CADD=24.8;VMM=32.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S37F|331|PARVG|protein_coding|CODING|ENST00000415224|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S37F|331|PARVG|protein_coding|CODING|ENST00000422871|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S37F|331|PARVG|protein_coding|CODING|ENST00000444313|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S37F|187|PARVG|nonsense_mediated_decay|CODING|ENST00000356909|4|T),DOWNSTREAM(MODIFIER||2430||25|PARVG|protein_coding|CODING|ENST00000416291||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2419||29|PARVG|protein_coding|CODING|ENST00000417767||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1577||34|PARVG|protein_coding|CODING|ENST00000466375||T),EXON(MODIFIER|||||PARVG|processed_transcript|CODING|ENST00000453888|3|T),EXON(MODIFIER|||||PARVG|retained_intron|CODING|ENST00000475485|4|T),EXON(MODIFIER|||||PARVG|retained_intron|CODING|ENST00000471836|3|T),EXON(MODIFIER|||||PARVG|retained_intron|CODING|ENST00000468564|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 44588205 Proband 63 G C . . Gene=PARVG;MT=SNP;MM=CM;CADD=11.95;VMM=32.19;EFF=UPSTREAM(MODIFIER||3773|||PARVG|processed_transcript|CODING|ENST00000472551||C),INTRON(MODIFIER||||331|PARVG|protein_coding|CODING|ENST00000415224|8|C),INTRON(MODIFIER||||331|PARVG|protein_coding|CODING|ENST00000422871|8|C),INTRON(MODIFIER||||331|PARVG|protein_coding|CODING|ENST00000444313|8|C),INTRON(MODIFIER|||||PARVG|retained_intron|CODING|ENST00000475485|8|C),INTRON(MODIFIER||||187|PARVG|nonsense_mediated_decay|CODING|ENST00000356909|8|C),INTRON(MODIFIER|||||PARVG|retained_intron|CODING|ENST00000468564|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38601665 Proband 63 C T . . Gene=SCN5A;MT=SNP;MM=CM;CADD=15.88;VMM=37.6;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1406|2016|SCN5A|protein_coding|CODING|ENST00000333535|23|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1406|1998|SCN5A|protein_coding|CODING|ENST00000414099|22|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1405|2015|SCN5A|protein_coding|CODING|ENST00000423572|22|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1406|2016|SCN5A|protein_coding|CODING|ENST00000413689|23|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1406|1998|SCN5A|protein_coding|CODING|ENST00000425664|23|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1405|2015|SCN5A|protein_coding|CODING|ENST00000443581|23|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1352|1962|SCN5A|protein_coding|CODING|ENST00000451551|22|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1405|1983|SCN5A|protein_coding|CODING|ENST00000455624|22|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1352|1962|SCN5A|protein_coding|CODING|ENST00000450102|21|T),SYNONYMOUS_CODING(LOW|SILENT|ggG/ggA|G1352|1962|SCN5A|protein_coding|CODING|ENST00000449557|21|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38655278 Proband 63 G A . . Gene=SCN5A;MT=SNP;MM=CM;CADD=20.7;VMM=37.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T220I|2016|SCN5A|protein_coding|CODING|ENST00000333535|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T220I|2015|SCN5A|protein_coding|CODING|ENST00000423572|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T220I|2015|SCN5A|protein_coding|CODING|ENST00000443581|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T220I|1962|SCN5A|protein_coding|CODING|ENST00000449557|5|A),DOWNSTREAM(MODIFIER||241|||SCN5A|retained_intron|CODING|ENST00000491944||A),INTRON(MODIFIER||||1998|SCN5A|protein_coding|CODING|ENST00000414099|5|A),INTRON(MODIFIER||||2016|SCN5A|protein_coding|CODING|ENST00000413689|6|A),INTRON(MODIFIER||||1998|SCN5A|protein_coding|CODING|ENST00000425664|6|A),INTRON(MODIFIER||||1962|SCN5A|protein_coding|CODING|ENST00000451551|6|A),INTRON(MODIFIER||||1983|SCN5A|protein_coding|CODING|ENST00000455624|5|A),INTRON(MODIFIER||||1962|SCN5A|protein_coding|CODING|ENST00000450102|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 117232266 Proband 63 C CA . . Gene=CFTR;MT=INDEL;MM=CM;CADD=23.8;VMM=36.7;EFF=FRAME_SHIFT(HIGH||aca/acAa|T682T?|1480|CFTR|protein_coding|CODING|ENST00000003084|14|CA),FRAME_SHIFT(HIGH||aca/acAa|T621T?|1419|CFTR|protein_coding|CODING|ENST00000454343|13|CA),FRAME_SHIFT(HIGH||aca/acAa|T652T?|1437|CFTR|protein_coding|CODING|ENST00000426809|13|CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4464|||CFTR|processed_transcript|CODING|ENST00000472848||CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 117282991 Proband 63 G A . . Gene=CFTR;MT=SNP;MM=CM;CADD=13.74;VMM=36.7;EFF=INTRON(MODIFIER||||1480|CFTR|protein_coding|CODING|ENST00000003084|23|A),INTRON(MODIFIER|||||AC000111.6|antisense|NON_CODING|ENST00000456270|1|A),INTRON(MODIFIER||||1419|CFTR|protein_coding|CODING|ENST00000454343|22|A),INTRON(MODIFIER||||1437|CFTR|protein_coding|CODING|ENST00000426809|22|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 109428049 Proband 64 A C . . Gene=GPSM2;MT=SNP;MM=CM;CADD=17.77;VMM=31.21;EFF=UTR_5_PRIME(MODIFIER||96||684|GPSM2|protein_coding|CODING|ENST00000264126|2|C),UTR_5_PRIME(MODIFIER||96||684|GPSM2|protein_coding|CODING|ENST00000406462|3|C),UTR_5_PRIME(MODIFIER||96||74|GPSM2|protein_coding|CODING|ENST00000435475|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||96||51|GPSM2|protein_coding|CODING|ENST00000446797|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||443|AKNAD1|protein_coding|CODING|ENST00000357393|1|C),INTRON(MODIFIER||||212|GPSM2|protein_coding|CODING|ENST00000435987|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 109472913 Proband 64 C T . . Gene=GPSM2;MT=SNP;MM=CM;CADD=15.67;VMM=31.21;EFF=UTR_3_PRIME(MODIFIER||351||684|GPSM2|protein_coding|CODING|ENST00000264126|15|T),UTR_3_PRIME(MODIFIER||4379||551|CLCC1|protein_coding|CODING|ENST00000356970|12|T),UTR_3_PRIME(MODIFIER||351||684|GPSM2|protein_coding|CODING|ENST00000406462|16|T),UTR_3_PRIME(MODIFIER||4379||366|CLCC1|protein_coding|CODING|ENST00000369968|7|T),UTR_3_PRIME(MODIFIER||4379||430|CLCC1|protein_coding|CODING|ENST00000369969|9|T),UTR_3_PRIME(MODIFIER||4379||551|CLCC1|protein_coding|CODING|ENST00000369971|12|T),UTR_3_PRIME(MODIFIER||4379||501|CLCC1|protein_coding|CODING|ENST00000415331|12|T),UTR_3_PRIME(MODIFIER||1065||262|CLCC1|protein_coding|CODING|ENST00000369976|8|T),DOWNSTREAM(MODIFIER||1695||501|CLCC1|protein_coding|CODING|ENST00000369970||T),DOWNSTREAM(MODIFIER||4367||430|CLCC1|protein_coding|CODING|ENST00000302500||T),DOWNSTREAM(MODIFIER||4367||366|CLCC1|protein_coding|CODING|ENST00000348264||T),INTRON(MODIFIER||||443|AKNAD1|protein_coding|CODING|ENST00000357393|1|T),INTRON(MODIFIER|||||CLCC1|processed_transcript|CODING|ENST00000473062|1|T),INTRON(MODIFIER|||||CLCC1|processed_transcript|CODING|ENST00000482889|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 72358811 Proband 64 G T . . Gene=PRF1;MT=SNP;MM=CM;CADD=25.1;VMM=93.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H222Q|555|PRF1|protein_coding|CODING|ENST00000373209|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caA|H222Q|555|PRF1|protein_coding|CODING|ENST00000441259|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 72360207 Proband 64 T A . . Gene=PRF1;MT=SNP;MM=CM;CADD=27;VMM=93.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cTc|H151L|555|PRF1|protein_coding|CODING|ENST00000373209|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cTc|H151L|555|PRF1|protein_coding|CODING|ENST00000441259|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 111892921 Proband 64 G A . . Gene=ATXN2;MT=SNP;MM=CM;CADD=17.46;VMM=34.69;EFF=SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C984|1073|ATXN2|protein_coding|CODING|ENST00000542287|24|A),UTR_3_PRIME(MODIFIER||882||197|ATXN2|protein_coding|CODING|ENST00000550844|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1058|||ATXN2|retained_intron|CODING|ENST00000484991||A),DOWNSTREAM(MODIFIER||3494||575|SH2B3|protein_coding|CODING|ENST00000341259||A),DOWNSTREAM(MODIFIER||798|||ATXN2|retained_intron|CODING|ENST00000468920||A),DOWNSTREAM(MODIFIER||1072|||ATXN2|retained_intron|CODING|ENST00000551551||A),DOWNSTREAM(MODIFIER||1104|||ATXN2|retained_intron|CODING|ENST00000550889||A),INTRON(MODIFIER||||1313|ATXN2|protein_coding|CODING|ENST00000377617|23|A),INTRON(MODIFIER||||424|ATXN2|protein_coding|CODING|ENST00000389154|9|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1050|ATXN2|protein_coding|CODING|ENST00000389153|23|A),INTRON(MODIFIER||||1153|ATXN2|protein_coding|CODING|ENST00000608853|23|A),INTRON(MODIFIER||||995|ATXN2|protein_coding|CODING|ENST00000550104|22|A),INTRON(MODIFIER||||915|ATXN2|nonsense_mediated_decay|CODING|ENST00000483311|22|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1006|ATXN2|protein_coding|CODING|ENST00000535949|20|A),INTRON(MODIFIER||||119|ATXN2|protein_coding|CODING|ENST00000475132|1|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ATXN2|retained_intron|CODING|ENST00000482777|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 111892991 Proband 64 T G . . Gene=ATXN2;MT=SNP;MM=CM;CADD=17.48;VMM=34.69;EFF=UTR_3_PRIME(MODIFIER||812||197|ATXN2|protein_coding|CODING|ENST00000550844|5|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1128|||ATXN2|retained_intron|CODING|ENST00000484991||G),DOWNSTREAM(MODIFIER||3564||575|SH2B3|protein_coding|CODING|ENST00000341259||G),DOWNSTREAM(MODIFIER||728|||ATXN2|retained_intron|CODING|ENST00000468920||G),DOWNSTREAM(MODIFIER||1002|||ATXN2|retained_intron|CODING|ENST00000551551||G),DOWNSTREAM(MODIFIER||1034|||ATXN2|retained_intron|CODING|ENST00000550889||G),INTRON(MODIFIER||||1313|ATXN2|protein_coding|CODING|ENST00000377617|23|G),INTRON(MODIFIER||||424|ATXN2|protein_coding|CODING|ENST00000389154|9|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1050|ATXN2|protein_coding|CODING|ENST00000389153|23|G),INTRON(MODIFIER||||1153|ATXN2|protein_coding|CODING|ENST00000608853|23|G),INTRON(MODIFIER||||995|ATXN2|protein_coding|CODING|ENST00000550104|22|G),INTRON(MODIFIER||||915|ATXN2|nonsense_mediated_decay|CODING|ENST00000483311|22|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1006|ATXN2|protein_coding|CODING|ENST00000535949|20|G),INTRON(MODIFIER||||1073|ATXN2|protein_coding|CODING|ENST00000542287|23|G),INTRON(MODIFIER||||119|ATXN2|protein_coding|CODING|ENST00000475132|1|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ATXN2|retained_intron|CODING|ENST00000482777|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480164 Proband 64 C T . . Gene=ACTR3B;MT=SNP;MM=CM;CADD=18.23;VMM=31.02;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480194 Proband 64 C T . . Gene=ACTR3B;MT=SNP;MM=CM;CADD=15.21;VMM=31.02;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 85396216 Proband 65 C A . . Gene=CCDC89;MT=SNP;MM=DN;CADD=22.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A320S|374|CCDC89|protein_coding|CODING|ENST00000316398|1|A),UPSTREAM(MODIFIER||2310|||CREBZF|processed_transcript|CODING|ENST00000531515||A),UPSTREAM(MODIFIER||2265||67|CREBZF|protein_coding|CODING|ENST00000534224||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 42965957 Proband 65 C T . . Gene=R3HDML;MT=SNP;MM=DN;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R54W|253|R3HDML|protein_coding|CODING|ENST00000217043|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 33566673 Proband 66 C T . . Gene=KIAA1549L;MT=SNP;MM=CM;CADD=28;VMM=50.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P754L|1855|KIAA1549L|protein_coding|CODING|ENST00000389726|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P145L|834|KIAA1549L|protein_coding|CODING|ENST00000526400|2|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P748L|1849|KIAA1549L|protein_coding|CODING|ENST00000321505|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P754L|1235|KIAA1549L|protein_coding|CODING|ENST00000265654|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 33690017 Proband 66 C T . . Gene=KIAA1549L;MT=SNP;MM=CM;CADD=15.44;VMM=50.99;EFF=UTR_3_PRIME(MODIFIER||317||1855|KIAA1549L|protein_coding|CODING|ENST00000389726|20|T),UTR_3_PRIME(MODIFIER||317||1849|KIAA1549L|protein_coding|CODING|ENST00000321505|20|T),INTRON(MODIFIER|||||RP4-541C22.5|antisense|NON_CODING|ENST00000534431|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74395936 Proband 66 G A . . Gene=UBE2O;MT=SNP;MM=CM;CADD=23;VMM=111.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R408W|1292|UBE2O|protein_coding|CODING|ENST00000319380|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R167W|187|UBE2O|protein_coding|CODING|ENST00000590658|6|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||238||806|UBE2O|protein_coding|CODING|ENST00000587127||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||481|||UBE2O|processed_transcript|CODING|ENST00000587581||A),DOWNSTREAM(MODIFIER||1876|||UBE2O|retained_intron|CODING|ENST00000586505||A),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586409|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74398726 Proband 66 C T . . Gene=UBE2O;MT=SNP;MM=CM;CADD=34;VMM=111.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D215N|1292|UBE2O|protein_coding|CODING|ENST00000319380|4|T),UPSTREAM(MODIFIER||3028||806|UBE2O|protein_coding|CODING|ENST00000587127||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3271|||UBE2O|processed_transcript|CODING|ENST00000587581||T),UPSTREAM(MODIFIER||4||187|UBE2O|protein_coding|CODING|ENST00000590658||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586409|4|T),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586505|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55467216 Proband 66 G A . . Gene=MTIF2;MT=SNP;MM=CM;CADD=35;VMM=32.08;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R601C|727|MTIF2|protein_coding|CODING|ENST00000263629|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R601C|727|MTIF2|protein_coding|CODING|ENST00000403721|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R601C|727|MTIF2|protein_coding|CODING|ENST00000394600|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R278C|299|MTIF2|protein_coding|CODING|ENST00000418823|6|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4227||156|RPS27A|protein_coding|CODING|ENST00000272317||A),DOWNSTREAM(MODIFIER||4492||156|RPS27A|protein_coding|CODING|ENST00000402285||A),DOWNSTREAM(MODIFIER||4325||156|RPS27A|protein_coding|CODING|ENST00000404735||A),DOWNSTREAM(MODIFIER||4896|||RPS27A|retained_intron|CODING|ENST00000478196||A),DOWNSTREAM(MODIFIER||4471|||RPS27A|retained_intron|CODING|ENST00000495843||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55490745 Proband 66 C CA . . Gene=MTIF2;MT=INDEL;MM=CM;CADD=9.184;VMM=32.08;EFF=DOWNSTREAM(MODIFIER||31||71|MTIF2|protein_coding|CODING|ENST00000366137||CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||37||69|MTIF2|protein_coding|CODING|ENST00000441307||CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||38||69|MTIF2|protein_coding|CODING|ENST00000404297||CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||170||25|MTIF2|protein_coding|CODING|ENST00000420637||CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||218||9|MTIF2|protein_coding|CODING|ENST00000417363||CA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||227||6|MTIF2|protein_coding|CODING|ENST00000412530||CA|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||727|MTIF2|protein_coding|CODING|ENST00000263629|4|CA),INTRON(MODIFIER||||727|MTIF2|protein_coding|CODING|ENST00000403721|3|CA),INTRON(MODIFIER||||727|MTIF2|protein_coding|CODING|ENST00000394600|5|CA),INTRON(MODIFIER|||||MTIF2|processed_transcript|CODING|ENST00000417741|2|CA),INTRON(MODIFIER|||||MTIF2|processed_transcript|CODING|ENST00000446660|3|CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21611415 Proband 66 T C . . Gene=DNAH11;MT=SNP;MM=CM;CADD=11.43;VMM=35.68;EFF=DOWNSTREAM(MODIFIER||1081|||DNAH11|retained_intron|CODING|ENST00000496218||C),INTRON(MODIFIER||||4523|DNAH11|protein_coding|CODING|ENST00000328843|7|C),INTRON(MODIFIER||||4516|DNAH11|protein_coding|CODING|ENST00000409508|7|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21932179 Proband 66 T C . . Gene=DNAH11;MT=SNP;MM=CM;CADD=29;VMM=35.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I4222T|4523|DNAH11|protein_coding|CODING|ENST00000328843|78|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I4215T|4516|DNAH11|protein_coding|CODING|ENST00000409508|77|C),UPSTREAM(MODIFIER||64|||DNAH11|retained_intron|CODING|ENST00000479878||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 11562050 Proband 67 C A . . Gene=PTCHD2;MT=SNP;MM=DN;CADD=39;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|tCg/tAg|S334*|1392|PTCHD2|protein_coding|CODING|ENST00000294484|2|A),STOP_GAINED(HIGH|NONSENSE|tCg/tAg|S334*|1392|PTCHD2|protein_coding|CODING|ENST00000389575|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15528575 Proband 67 C T . . Gene=C16orf45;MT=SNP;MM=DN;CADD=24.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A22V|204|C16orf45|protein_coding|CODING|ENST00000300006|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A22V|151|C16orf45|protein_coding|CODING|ENST00000566490|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A22V|36|C16orf45|nonsense_mediated_decay|CODING|ENST00000570249|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A22V|88|C16orf45|nonsense_mediated_decay|CODING|ENST00000561813|1|T),UTR_3_PRIME(MODIFIER||220||119|RP11-1021N1.1|nonsense_mediated_decay|CODING|ENST00000568222|2|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||117|RP11-1021N1.1|protein_coding|CODING|ENST00000568766|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||96|RP11-1021N1.1|nonsense_mediated_decay|CODING|ENST00000567442|3|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||C16orf45|retained_intron|CODING|ENST00000567550|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 30106425 Proband 67 C CT . . Gene=YPEL3;MT=INDEL;MM=DN;CADD=33;VMM=0;EFF=FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S91S?|157|YPEL3|protein_coding|CODING|ENST00000398841|2|CT),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S53S?|75|YPEL3|protein_coding|CODING|ENST00000566134|3|CT),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S53S?|119|YPEL3|protein_coding|CODING|ENST00000398838|3|CT),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S53S?|119|YPEL3|protein_coding|CODING|ENST00000563788|3|CT),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S53S?|119|YPEL3|protein_coding|CODING|ENST00000566595|3|CT),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S53S?|102|YPEL3|protein_coding|CODING|ENST00000565110|3|CT|WARNING_TRANSCRIPT_NO_STOP_CODON),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||tca/tcaA|S91S?|137|YPEL3|protein_coding|CODING|ENST00000562641|2|CT),FRAME_SHIFT(HIGH||tca/tcaA|S53S?|54|YPEL3|nonsense_mediated_decay|CODING|ENST00000566401|3|CT),SPLICE_SITE_REGION+EXON(LOW|||||YPEL3|processed_transcript|CODING|ENST00000565479|3|CT),SPLICE_SITE_REGION+EXON(LOW|||||YPEL3|processed_transcript|CODING|ENST00000568674|3|CT),UPSTREAM(MODIFIER||3856||436|TBX6|protein_coding|CODING|ENST00000279386||CT),UPSTREAM(MODIFIER||1325|||RP11-455F5.3|antisense|NON_CODING|ENST00000515455||CT),UPSTREAM(MODIFIER||3221||436|TBX6|protein_coding|CODING|ENST00000395224||CT),UPSTREAM(MODIFIER||3892||295|TBX6|nonsense_mediated_decay|CODING|ENST00000567664||CT),UPSTREAM(MODIFIER||3218||295|TBX6|protein_coding|CODING|ENST00000553607||CT),UPSTREAM(MODIFIER||225||30|YPEL3|nonsense_mediated_decay|CODING|ENST00000570099||CT|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||YPEL3|retained_intron|CODING|ENST00000568681|2|CT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32053723 Proband 67 C A . . Gene=TNXB;MT=SNP;MM=DN;CADD=25.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q984H|4244|TNXB|protein_coding|CODING|ENST00000375244|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q984H|4242|TNXB|protein_coding|CODING|ENST00000375247|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 19056250 Proband 67 C A . . Gene=TMC7;MT=SNP;MM=CM;CADD=26.7;VMM=154.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T461K|758|TMC7|protein_coding|CODING|ENST00000569532|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T461K|723|TMC7|protein_coding|CODING|ENST00000304381|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T351K|613|TMC7|protein_coding|CODING|ENST00000421369|10|A),EXON(MODIFIER|||||TMC7|retained_intron|CODING|ENST00000568469|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 19073120 Proband 67 C A . . Gene=TMC7;MT=SNP;MM=CM;CADD=37;VMM=154.25;EFF=STOP_GAINED(HIGH|NONSENSE|taC/taA|Y709*|723|TMC7|protein_coding|CODING|ENST00000304381|16|A),STOP_GAINED(HIGH|NONSENSE|taC/taA|Y599*|613|TMC7|protein_coding|CODING|ENST00000421369|16|A),UPSTREAM(MODIFIER||4193|||RP11-626G11.1|lincRNA|NON_CODING|ENST00000565802||A),DOWNSTREAM(MODIFIER||1802||758|TMC7|protein_coding|CODING|ENST00000569532||A),DOWNSTREAM(MODIFIER||956|||RP11-626G11.5|antisense|NON_CODING|ENST00000576433||A),DOWNSTREAM(MODIFIER||701|||RP11-626G11.5|antisense|NON_CODING|ENST00000571934||A),DOWNSTREAM(MODIFIER||1064|||RP11-626G11.5|antisense|NON_CODING|ENST00000568971||A),DOWNSTREAM(MODIFIER||1064|||RP11-626G11.5|antisense|NON_CODING|ENST00000567047||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 36900186 Proband 67 G C . . Gene=FOXRED2;MT=SNP;MM=CM;CADD=25.3;VMM=42.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I336M|684|FOXRED2|protein_coding|CODING|ENST00000216187|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I336M|684|FOXRED2|protein_coding|CODING|ENST00000397224|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atC/atG|I336M|684|FOXRED2|protein_coding|CODING|ENST00000397223|3|C),DOWNSTREAM(MODIFIER||2025||85|FOXRED2|protein_coding|CODING|ENST00000423980||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 36900220 Proband 67 T C . . Gene=FOXRED2;MT=SNP;MM=CM;CADD=14.71;VMM=42.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N325S|684|FOXRED2|protein_coding|CODING|ENST00000216187|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N325S|684|FOXRED2|protein_coding|CODING|ENST00000397224|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N325S|684|FOXRED2|protein_coding|CODING|ENST00000397223|3|C),DOWNSTREAM(MODIFIER||1991||85|FOXRED2|protein_coding|CODING|ENST00000423980||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 112173129 Proband 67 A T . . Gene=APC;MT=SNP;MM=CM;CADD=12.78;VMM=45.84;EFF=INTRON(MODIFIER||||2843|APC|protein_coding|CODING|ENST00000257430|15|T),INTRON(MODIFIER||||93|CTC-554D6.1|nonsense_mediated_decay|CODING|ENST00000520401|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||2843|APC|protein_coding|CODING|ENST00000457016|15|T),INTRON(MODIFIER||||1134|APC|protein_coding|CODING|ENST00000507379|13|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||287|APC|nonsense_mediated_decay|CODING|ENST00000508624|16|T),INTRON(MODIFIER||||2843|APC|protein_coding|CODING|ENST00000508376|16|T),INTRON(MODIFIER||||1303|APC|protein_coding|CODING|ENST00000512211|15|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||APC|retained_intron|CODING|ENST00000502371|2|T),INTRON(MODIFIER||||271|APC|protein_coding|CODING|ENST00000504915|6|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||APC|retained_intron|CODING|ENST00000514164|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 112174727 Proband 67 C T . . Gene=APC;MT=SNP;MM=CM;CADD=32;VMM=45.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1146C|2843|APC|protein_coding|CODING|ENST00000257430|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1146C|2843|APC|protein_coding|CODING|ENST00000457016|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1128C|1134|APC|protein_coding|CODING|ENST00000507379|14|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1146C|2843|APC|protein_coding|CODING|ENST00000508376|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1146C|1303|APC|protein_coding|CODING|ENST00000512211|16|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||28875||287|APC|nonsense_mediated_decay|CODING|ENST00000508624|17|T),DOWNSTREAM(MODIFIER||1308||271|APC|protein_coding|CODING|ENST00000504915||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1186|||APC|retained_intron|CODING|ENST00000514164||T),INTRON(MODIFIER||||93|CTC-554D6.1|nonsense_mediated_decay|CODING|ENST00000520401|3|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||APC|retained_intron|CODING|ENST00000502371|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176008380 Proband 67 C T . . Gene=CDHR2;MT=SNP;MM=CM;CADD=33;VMM=121.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R619C|1310|CDHR2|protein_coding|CODING|ENST00000261944|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R619C|1310|CDHR2|protein_coding|CODING|ENST00000510636|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R619C|1310|CDHR2|protein_coding|CODING|ENST00000506348|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176011984 Proband 67 C T . . Gene=CDHR2;MT=SNP;MM=CM;CADD=25.2;VMM=121.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T901M|1310|CDHR2|protein_coding|CODING|ENST00000261944|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T901M|1310|CDHR2|protein_coding|CODING|ENST00000510636|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T901M|1310|CDHR2|protein_coding|CODING|ENST00000506348|18|T),UPSTREAM(MODIFIER||1668|||CDHR2|retained_intron|CODING|ENST00000513031||T),UPSTREAM(MODIFIER||1676|||CDHR2|retained_intron|CODING|ENST00000508085||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 133894816 Proband 67 G A . . Gene=TG;MT=SNP;MM=CM;CADD=34;VMM=120.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R283Q|2768|TG|protein_coding|CODING|ENST00000220616|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R283Q|2711|TG|protein_coding|CODING|ENST00000377869|7|A),DOWNSTREAM(MODIFIER||676||59|TG|nonsense_mediated_decay|CODING|ENST00000523901||A),EXON(MODIFIER|||||TG|retained_intron|CODING|ENST00000520769|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 133895127 Proband 67 C T . . Gene=TG;MT=SNP;MM=CM;CADD=24.3;VMM=120.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R320C|2768|TG|protein_coding|CODING|ENST00000220616|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R320C|2711|TG|protein_coding|CODING|ENST00000377869|8|T),DOWNSTREAM(MODIFIER||987||59|TG|nonsense_mediated_decay|CODING|ENST00000523901||T),EXON(MODIFIER|||||TG|retained_intron|CODING|ENST00000520769|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 12356805 Proband 68 C T . . Gene=AFG3L2;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G351D|797|AFG3L2|protein_coding|CODING|ENST00000269143|9|T),DOWNSTREAM(MODIFIER||1898||207|AFG3L2|protein_coding|CODING|ENST00000590811||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1999|||AFG3L2|retained_intron|CODING|ENST00000591848||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17602826 Proband 68 G T . . Gene=FAM8A1;MT=SNP;MM=CM;CADD=46;VMM=197.54;EFF=STOP_GAINED(HIGH|NONSENSE|Gaa/Taa|E240*|413|FAM8A1|protein_coding|CODING|ENST00000259963|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17605246 Proband 68 G A . . Gene=FAM8A1;MT=SNP;MM=CM;CADD=25.9;VMM=197.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V315I|413|FAM8A1|protein_coding|CODING|ENST00000259963|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56324044 Proband 68 C G . . Gene=DST;MT=SNP;MM=CM;CADD=34;VMM=130.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R7671P|7750|DST|protein_coding|CODING|ENST00000370754|102|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R5092P|5171|DST|protein_coding|CODING|ENST00000244364|84|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R7167P|7246|DST|protein_coding|CODING|ENST00000446842|89|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R7493P|7572|DST|protein_coding|CODING|ENST00000370769|99|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R5378P|5457|DST|protein_coding|CODING|ENST00000421834|93|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R5296P|5375|DST|protein_coding|CODING|ENST00000370788|93|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R179P|258|DST|protein_coding|CODING|ENST00000523292|5|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R7382P|7461|DST|protein_coding|CODING|ENST00000361203|98|G),UTR_3_PRIME(MODIFIER||113766||4200|DST|protein_coding|CODING|ENST00000312431|99|G),DOWNSTREAM(MODIFIER||18|||DST|processed_transcript|CODING|ENST00000523597||G),EXON(MODIFIER|||||DST|retained_intron|CODING|ENST00000518464|2|G),EXON(MODIFIER|||||DST|retained_intron|CODING|ENST00000466429|4|G),EXON(MODIFIER|||||DST|retained_intron|CODING|ENST00000482156|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56504516 Proband 68 T G . . Gene=DST;MT=SNP;MM=CM;CADD=25.7;VMM=130.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E859A|7750|DST|protein_coding|CODING|ENST00000370754|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E355A|5171|DST|protein_coding|CODING|ENST00000244364|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E355A|7246|DST|protein_coding|CODING|ENST00000446842|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E681A|4200|DST|protein_coding|CODING|ENST00000312431|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E681A|7572|DST|protein_coding|CODING|ENST00000370769|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E681A|5457|DST|protein_coding|CODING|ENST00000421834|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E681A|5375|DST|protein_coding|CODING|ENST00000370788|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E681A|7461|DST|protein_coding|CODING|ENST00000361203|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E355A|3059|DST|protein_coding|CODING|ENST00000439203|6|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E721A|1478|DST|protein_coding|CODING|ENST00000520645|17|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E355A|2649|DST|protein_coding|CODING|ENST00000370765|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E355A|1143|DST|protein_coding|CODING|ENST00000518935|6|G),DOWNSTREAM(MODIFIER||749||688|DST|protein_coding|CODING|ENST00000449297||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2469|||DST|retained_intron|CODING|ENST00000518828||G),EXON(MODIFIER|||||DST|retained_intron|CODING|ENST00000523967|16|G),EXON(MODIFIER|||||DST|retained_intron|CODING|ENST00000521104|12|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 175245404 Proband 69 A T . . Gene=CIR1;MT=SNP;MM=DN;CADD=24.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Agg|W98R|450|CIR1|protein_coding|CODING|ENST00000342016|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Agg|W98R|202|CIR1|protein_coding|CODING|ENST00000362053|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Agg|W2R|95|CIR1|protein_coding|CODING|ENST00000377973|1|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CIR1|retained_intron|CODING|ENST00000461454|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 231475572 Proband 70 C G . . Gene=SPRTN;MT=SNP;MM=DN;CADD=26.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S93R|489|SPRTN|protein_coding|CODING|ENST00000295050|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S93R|250|SPRTN|protein_coding|CODING|ENST00000391858|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agG|S93R|207|SPRTN|protein_coding|CODING|ENST00000008440|2|G),UTR_5_PRIME(MODIFIER||4880||186|SPRTN|protein_coding|CODING|ENST00000366644|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1994||725|EXOC8|protein_coding|CODING|ENST00000360394||G),UPSTREAM(MODIFIER||1974||721|EXOC8|protein_coding|CODING|ENST00000366645||G),EXON(MODIFIER|||||SPRTN|processed_transcript|CODING|ENST00000492437|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 41203379 Proband 70 A G . . Gene=DDX3X;MT=SNP;MM=DN;CADD=28.5;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aaa/Gaa|K288E|662|DDX3X|protein_coding|CODING|ENST00000399959|9|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aaa/Gaa|K272E|646|DDX3X|protein_coding|CODING|ENST00000457138|8|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aAa/aGa|K303R|308|DDX3X|protein_coding|CODING|ENST00000542215|8|G),SPLICE_SITE_REGION+EXON(LOW|||||DDX3X|processed_transcript|CODING|ENST00000478993|9|G),DOWNSTREAM(MODIFIER||1456|||RN7SL15P|misc_RNA|NON_CODING|ENST00000582825||G),INTRON(MODIFIER||||139|DDX3X|protein_coding|CODING|ENST00000441189|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 3733934 Proband 70 G C . . Gene=NUP98;MT=SNP;MM=CM;CADD=24.9;VMM=76.36;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1800|NUP98|protein_coding|CODING||20|C),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1638|NUP98|protein_coding|CODING||20|C),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1726|NUP98|protein_coding|CODING||20|C),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||920|NUP98|protein_coding|CODING||20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Gtt|L868V|1800|NUP98|protein_coding|CODING|ENST00000324932|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Gtt|L868V|1638|NUP98|protein_coding|CODING|ENST00000359171|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Gtt|L868V|1726|NUP98|protein_coding|CODING|ENST00000355260|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Gtt|L868V|920|NUP98|protein_coding|CODING|ENST00000397004|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Gtt|L885V|937|NUP98|protein_coding|CODING|ENST00000397007|20|C),DOWNSTREAM(MODIFIER||2068|||RNU6-1143P|snRNA|NON_CODING|ENST00000516125||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 3765859 Proband 70 A T . . Gene=NUP98;MT=SNP;MM=CM;CADD=23.4;VMM=76.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S430T|1800|NUP98|protein_coding|CODING|ENST00000324932|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S430T|1638|NUP98|protein_coding|CODING|ENST00000359171|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S430T|1726|NUP98|protein_coding|CODING|ENST00000355260|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S430T|920|NUP98|protein_coding|CODING|ENST00000397004|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S447T|937|NUP98|protein_coding|CODING|ENST00000397007|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S49T|233|NUP98|protein_coding|CODING|ENST00000527104|3|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||15827||135|NUP98|nonsense_mediated_decay|CODING|ENST00000397013|5|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||177|NUP98|protein_coding|CODING|ENST00000529379|3|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17394994 Proband 70 C T . . Gene=CNTLN;MT=SNP;MM=CM;CADD=23.6;VMM=39.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H848Y|1406|CNTLN|protein_coding|CODING|ENST00000380647|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H848Y|1405|CNTLN|protein_coding|CODING|ENST00000262360|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H848Y|1406|CNTLN|protein_coding|CODING|ENST00000425824|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17487553 Proband 70 C T . . Gene=CNTLN;MT=SNP;MM=CM;CADD=14.76;VMM=39.77;EFF=INTRON(MODIFIER||||1406|CNTLN|protein_coding|CODING|ENST00000380647|25|T),INTRON(MODIFIER||||1405|CNTLN|protein_coding|CODING|ENST00000262360|25|T),INTRON(MODIFIER||||1406|CNTLN|protein_coding|CODING|ENST00000425824|25|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 21762981 Proband 71 C G . . Gene=RPGRIP1;MT=SNP;MM=CM;CADD=14.43;VMM=41.36;EFF=INTRON(MODIFIER||||1286|RPGRIP1|protein_coding|CODING|ENST00000206660|2|G),INTRON(MODIFIER||||943|RPGRIP1|protein_coding|CODING|ENST00000556336|2|G),INTRON(MODIFIER||||1248|RPGRIP1|protein_coding|CODING|ENST00000557771|2|G),INTRON(MODIFIER||||1286|RPGRIP1|protein_coding|CODING|ENST00000400017|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 21792781 Proband 71 G T . . Gene=RPGRIP1;MT=SNP;MM=CM;CADD=25.1;VMM=41.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q589H|1286|RPGRIP1|protein_coding|CODING|ENST00000206660|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q551H|1248|RPGRIP1|protein_coding|CODING|ENST00000557771|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q589H|1286|RPGRIP1|protein_coding|CODING|ENST00000400017|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q64H|761|RPGRIP1|protein_coding|CODING|ENST00000555587|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q51H|142|RPGRIP1|protein_coding|CODING|ENST00000554303|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Tct|A37S|59|RPGRIP1|nonsense_mediated_decay|CODING|ENST00000555489|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||8||645|RPGRIP1|protein_coding|CODING|ENST00000307974||T),UPSTREAM(MODIFIER||3977||132|RPGRIP1|protein_coding|CODING|ENST00000557606||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3332||165|RPGRIP1|protein_coding|CODING|ENST00000557351||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||943|RPGRIP1|protein_coding|CODING|ENST00000556336|13|T),INTRON(MODIFIER||||612|RPGRIP1|protein_coding|CODING|ENST00000382933|4|T),INTRON(MODIFIER||||25|RPGRIP1|nonsense_mediated_decay|CODING|ENST00000555322|2|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||RPGRIP1|processed_transcript|CODING|ENST00000553500|4|T),EXON(MODIFIER|||||RPGRIP1|retained_intron|CODING|ENST00000553927|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156904759 Proband 72 TTA T . . Gene=ARHGEF11;MT=INDEL;MM=CM;CADD=13.97;VMM=32.39;EFF=UTR_3_PRIME(MODIFIER||1031||1562|ARHGEF11|protein_coding|CODING|ENST00000368194|41|T),DOWNSTREAM(MODIFIER||1874||559|LRRC71|protein_coding|CODING|ENST00000337428||T),DOWNSTREAM(MODIFIER||1163|||MIR765|miRNA|NON_CODING|ENST00000390226||T),DOWNSTREAM(MODIFIER||1880|||LRRC71|processed_transcript|CODING|ENST00000490146||T),DOWNSTREAM(MODIFIER||1883|||LRRC71|processed_transcript|CODING|ENST00000476550||T),DOWNSTREAM(MODIFIER||1879|||LRRC71|processed_transcript|CODING|ENST00000472465||T),DOWNSTREAM(MODIFIER||556||1522|ARHGEF11|protein_coding|CODING|ENST00000361409||T),DOWNSTREAM(MODIFIER||678||938|ARHGEF11|protein_coding|CODING|ENST00000315174||T),DOWNSTREAM(MODIFIER||1848|||ARHGEF11|processed_transcript|CODING|ENST00000492592||T),EXON(MODIFIER|||||ARHGEF11|processed_transcript|CODING|ENST00000487682|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156924736 Proband 72 C A . . Gene=ARHGEF11;MT=SNP;MM=CM;CADD=20.8;VMM=32.39;EFF=DOWNSTREAM(MODIFIER||780|||ARHGEF11|processed_transcript|CODING|ENST00000486670||A),INTRON(MODIFIER||||1562|ARHGEF11|protein_coding|CODING|ENST00000368194|20|A),INTRON(MODIFIER||||1522|ARHGEF11|protein_coding|CODING|ENST00000361409|19|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216363571 Proband 72 C T . . Gene=USH2A;MT=SNP;MM=CM;CADD=25.5;VMM=68.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1464T|5226|USH2A|protein_coding|CODING|ENST00000366943|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1464T|5202|USH2A|protein_coding|CODING|ENST00000307340|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1464T|1546|USH2A|protein_coding|CODING|ENST00000366942|20|T),UPSTREAM(MODIFIER||3822|||RP5-1099E6.3|antisense|NON_CODING|ENST00000420867||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 216462627 Proband 72 C T . . Gene=USH2A;MT=SNP;MM=CM;CADD=21.1;VMM=68.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D656N|5226|USH2A|protein_coding|CODING|ENST00000366943|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D656N|5202|USH2A|protein_coding|CODING|ENST00000307340|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D656N|1546|USH2A|protein_coding|CODING|ENST00000366942|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 235955206 Proband 72 G A . . Gene=LYST;MT=SNP;MM=CM;CADD=23.7;VMM=40.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1446W|3801|LYST|protein_coding|CODING|ENST00000389793|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1446W|3801|LYST|protein_coding|CODING|ENST00000389794|12|A),UPSTREAM(MODIFIER||3058|||LYST|processed_transcript|CODING|ENST00000492844||A),INTRON(MODIFIER||||1382|LYST|protein_coding|CODING|ENST00000536965|11|A),EXON(MODIFIER|||||LYST|processed_transcript|CODING|ENST00000489585|12|A),EXON(MODIFIER|||||LYST|processed_transcript|CODING|ENST00000465349|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 235993722 Proband 72 G A . . Gene=LYST;MT=SNP;MM=CM;CADD=14.87;VMM=40.33;EFF=SPLICE_SITE_REGION(LOW||||3801|LYST|protein_coding|CODING|ENST00000389793|3|A),SPLICE_SITE_REGION(LOW||||3801|LYST|protein_coding|CODING|ENST00000389794|3|A),SPLICE_SITE_REGION+EXON(LOW|||||LYST|processed_transcript|CODING|ENST00000489585|3|A),SPLICE_SITE_REGION(LOW||||1382|LYST|protein_coding|CODING|ENST00000536965|3|A),SPLICE_SITE_REGION+EXON(LOW|||||LYST|processed_transcript|CODING|ENST00000465349|3|A),SPLICE_SITE_REGION+EXON(LOW|||||LYST|processed_transcript|CODING|ENST00000468107|3|A),SPLICE_SITE_REGION+EXON(LOW|||||LYST|processed_transcript|CODING|ENST00000468626|3|A),START_GAINED(LOW||||3801|LYST|protein_coding|CODING|ENST00000389793|3|A),START_GAINED(LOW||||3801|LYST|protein_coding|CODING|ENST00000389794|3|A),START_GAINED(LOW||||1382|LYST|protein_coding|CODING|ENST00000536965|3|A),UTR_5_PRIME(MODIFIER||5||3801|LYST|protein_coding|CODING|ENST00000389793|3|A),UTR_5_PRIME(MODIFIER||5||3801|LYST|protein_coding|CODING|ENST00000389794|3|A),UTR_5_PRIME(MODIFIER||5||1382|LYST|protein_coding|CODING|ENST00000536965|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 14577265 Proband 72 T G . . Gene=ATF7IP;MT=SNP;MM=CM;CADD=18.76;VMM=58.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L147R|1278|ATF7IP|protein_coding|CODING|ENST00000544627|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|1270|ATF7IP|protein_coding|CODING|ENST00000261168|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|1105|ATF7IP|protein_coding|CODING|ENST00000543189|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|1269|ATF7IP|protein_coding|CODING|ENST00000536444|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|175|ATF7IP|protein_coding|CODING|ENST00000542967|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|151|ATF7IP|protein_coding|CODING|ENST00000534828|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|168|ATF7IP|protein_coding|CODING|ENST00000541056|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|175|ATF7IP|protein_coding|CODING|ENST00000539057|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|167|ATF7IP|protein_coding|CODING|ENST00000545769|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|514|ATF7IP|protein_coding|CODING|ENST00000396279|2|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L139R|1270|ATF7IP|protein_coding|CODING|ENST00000540793|1|G),DOWNSTREAM(MODIFIER||107||102|ATF7IP|protein_coding|CODING|ENST00000535132||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||239||58|ATF7IP|protein_coding|CODING|ENST00000542991||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||40||124|ATF7IP|protein_coding|CODING|ENST00000428217||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||19||131|ATF7IP|protein_coding|CODING|ENST00000542514||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||148||88|ATF7IP|protein_coding|CODING|ENST00000536279||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||319||31|ATF7IP|protein_coding|CODING|ENST00000542508||G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||95|ATF7IP|protein_coding|CODING|ENST00000538511|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||142|ATF7IP|protein_coding|CODING|ENST00000545723|2|G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ATF7IP|processed_transcript|CODING|ENST00000539659|2|G),EXON(MODIFIER|||||ATF7IP|retained_intron|CODING|ENST00000537653|2|G),EXON(MODIFIER|||||ATF7IP|processed_transcript|CODING|ENST00000541654|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 14578354 Proband 72 C T . . Gene=ATF7IP;MT=SNP;MM=CM;CADD=25.2;VMM=58.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S510L|1278|ATF7IP|protein_coding|CODING|ENST00000544627|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S502L|1270|ATF7IP|protein_coding|CODING|ENST00000261168|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S502L|1105|ATF7IP|protein_coding|CODING|ENST00000543189|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S502L|1269|ATF7IP|protein_coding|CODING|ENST00000536444|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S502L|514|ATF7IP|protein_coding|CODING|ENST00000396279|2|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S502L|1270|ATF7IP|protein_coding|CODING|ENST00000540793|1|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1278|ATF7IP|protein_coding|CODING||2|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1270|ATF7IP|protein_coding|CODING||2|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1105|ATF7IP|protein_coding|CODING||2|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1269|ATF7IP|protein_coding|CODING||2|T),DOWNSTREAM(MODIFIER||977||175|ATF7IP|protein_coding|CODING|ENST00000542967||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1049||151|ATF7IP|protein_coding|CODING|ENST00000534828||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1196||102|ATF7IP|protein_coding|CODING|ENST00000535132||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1328||58|ATF7IP|protein_coding|CODING|ENST00000542991||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||997||168|ATF7IP|protein_coding|CODING|ENST00000541056||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||975||175|ATF7IP|protein_coding|CODING|ENST00000539057||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||999||167|ATF7IP|protein_coding|CODING|ENST00000545769||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1129||124|ATF7IP|protein_coding|CODING|ENST00000428217||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1108||131|ATF7IP|protein_coding|CODING|ENST00000542514||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1237||88|ATF7IP|protein_coding|CODING|ENST00000536279||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1408||31|ATF7IP|protein_coding|CODING|ENST00000542508||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||95|ATF7IP|protein_coding|CODING|ENST00000538511|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||142|ATF7IP|protein_coding|CODING|ENST00000545723|2|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ATF7IP|processed_transcript|CODING|ENST00000539659|2|T),EXON(MODIFIER|||||ATF7IP|retained_intron|CODING|ENST00000537653|2|T),EXON(MODIFIER|||||ATF7IP|processed_transcript|CODING|ENST00000541654|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 65684226 Proband 72 G A . . Gene=IGDCC4;MT=SNP;MM=CM;CADD=22.7;VMM=97.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P739L|1250|IGDCC4|protein_coding|CODING|ENST00000352385|12|A),EXON(MODIFIER|||||IGDCC4|retained_intron|CODING|ENST00000559327|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 65684690 Proband 72 T C . . Gene=IGDCC4;MT=SNP;MM=CM;CADD=31;VMM=97.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E635G|1250|IGDCC4|protein_coding|CODING|ENST00000352385|11|C),EXON(MODIFIER|||||IGDCC4|retained_intron|CODING|ENST00000559327|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149500514 Proband 72 C T . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=17.65;VMM=45.14;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K841|1106|PDGFRB|protein_coding|CODING|ENST00000261799|18|T),UTR_3_PRIME(MODIFIER||13003||239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579|18|T),DOWNSTREAM(MODIFIER||3219|||PDGFRB|retained_intron|CODING|ENST00000520229||T),EXON(MODIFIER|||||PDGFRB|processed_transcript|CODING|ENST00000519575|4|T),EXON(MODIFIER|||||PDGFRB|processed_transcript|CODING|ENST00000521723|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149515318 Proband 72 G A . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=21.7;VMM=45.14;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1106|PDGFRB|protein_coding|CODING||3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S55L|1106|PDGFRB|protein_coding|CODING|ENST00000261799|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S55L|239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S55L|173|PDGFRB|protein_coding|CODING|ENST00000517957|3|A|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||145|PDGFRB|protein_coding|CODING|ENST00000517488|2|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||29||145|PDGFRB|protein_coding|CODING|ENST00000517488|2|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1645|||PDGFRB|retained_intron|CODING|ENST00000522466||A),DOWNSTREAM(MODIFIER||1549|||PDGFRB|processed_transcript|CODING|ENST00000517660||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 213134615 Proband 73 T A . . Gene=VASH2;MT=SNP;MM=DN;CADD=20.9;VMM=0;EFF=INTRON(MODIFIER||||355|VASH2|protein_coding|CODING|ENST00000517399|2|A),INTRON(MODIFIER||||290|VASH2|protein_coding|CODING|ENST00000366966|4|A),INTRON(MODIFIER||||156|VASH2|protein_coding|CODING|ENST00000366964|4|A),INTRON(MODIFIER||||290|VASH2|protein_coding|CODING|ENST00000366968|4|A),INTRON(MODIFIER||||311|VASH2|protein_coding|CODING|ENST00000366965|3|A),INTRON(MODIFIER||||251|VASH2|protein_coding|CODING|ENST00000366967|2|A),INTRON(MODIFIER|||||VASH2|retained_intron|CODING|ENST00000481097|1|A),EXON(MODIFIER|||||VASH2|processed_transcript|CODING|ENST00000271776|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 16694658 Proband 73 G A . . Gene=MYO10;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1208C|2058|MYO10|protein_coding|CODING|ENST00000513610|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R565C|1415|MYO10|protein_coding|CODING|ENST00000274203|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R547C|1397|MYO10|protein_coding|CODING|ENST00000515803|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R565C|1415|MYO10|protein_coding|CODING|ENST00000427430|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R547C|1397|MYO10|protein_coding|CODING|ENST00000505695|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 90072377 Proband 73 G T . . Gene=GPR98;MT=SNP;MM=DN;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4171C|6306|GPR98|protein_coding|CODING|ENST00000405460|61|T),UPSTREAM(MODIFIER||4521||1967|GPR98|protein_coding|CODING|ENST00000425867||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152081362 Proband 73 C G . . Gene=TCHH;MT=SNP;MM=CM;CADD=15.6;VMM=41.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cCa|R1444P|1943|TCHH|protein_coding|CODING|ENST00000368804|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152081986 Proband 73 C G . . Gene=TCHH;MT=SNP;MM=CM;CADD=23.2;VMM=41.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cCt|R1236P|1943|TCHH|protein_coding|CODING|ENST00000368804|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 75014884 Proband 73 G T . . Gene=CYP1A1;MT=SNP;MM=CM;CADD=17.1;VMM=48.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|512|CYP1A1|protein_coding|CODING|ENST00000379727|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|512|CYP1A1|protein_coding|CODING|ENST00000395048|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|512|CYP1A1|protein_coding|CODING|ENST00000567032|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|483|CYP1A1|protein_coding|CODING|ENST00000395049|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|189|CYP1A1|nonsense_mediated_decay|CODING|ENST00000562201|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N185K|189|CYP1A1|nonsense_mediated_decay|CODING|ENST00000569630|2|T),INTRON(MODIFIER||||157|CYP1A1|protein_coding|CODING|ENST00000564596|1|T),INTRON(MODIFIER||||174|CYP1A1|protein_coding|CODING|ENST00000566503|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 75015045 Proband 73 C G . . Gene=CYP1A1;MT=SNP;MM=CM;CADD=24;VMM=48.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|512|CYP1A1|protein_coding|CODING|ENST00000379727|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|512|CYP1A1|protein_coding|CODING|ENST00000395048|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|512|CYP1A1|protein_coding|CODING|ENST00000567032|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|483|CYP1A1|protein_coding|CODING|ENST00000395049|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|189|CYP1A1|nonsense_mediated_decay|CODING|ENST00000562201|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A132P|189|CYP1A1|nonsense_mediated_decay|CODING|ENST00000569630|2|G),INTRON(MODIFIER||||157|CYP1A1|protein_coding|CODING|ENST00000564596|1|G),INTRON(MODIFIER||||174|CYP1A1|protein_coding|CODING|ENST00000566503|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 126226625 Proband 73 G A . . Gene=UROC1;MT=SNP;MM=CM;CADD=24.6;VMM=108.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R188W|736|UROC1|protein_coding|CODING|ENST00000383579|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R188W|676|UROC1|protein_coding|CODING|ENST00000290868|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 126229615 Proband 73 C T . . Gene=UROC1;MT=SNP;MM=CM;CADD=31;VMM=108.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R50H|736|UROC1|protein_coding|CODING|ENST00000383579|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R50H|676|UROC1|protein_coding|CODING|ENST00000290868|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 13570617 Proband 73 A G . . Gene=BOD1L1;MT=SNP;MM=CM;CADD=10.52;VMM=37.48;EFF=UTR_3_PRIME(MODIFIER||1018||3051|BOD1L1|protein_coding|CODING|ENST00000040738|26|G),DOWNSTREAM(MODIFIER||513||206|BOD1L1|protein_coding|CODING|ENST00000507943||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||793|||BOD1L1|retained_intron|CODING|ENST00000505343||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 13603690 Proband 73 C T . . Gene=BOD1L1;MT=SNP;MM=CM;CADD=34;VMM=37.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E1612K|3051|BOD1L1|protein_coding|CODING|ENST00000040738|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 169309625 Proband 73 G T . . Gene=FAM196B;MT=SNP;MM=CM;CADD=25.8;VMM=86.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaA|N426K|535|FAM196B|protein_coding|CODING|ENST00000377365|2|T),DOWNSTREAM(MODIFIER||1754|||FAM196B|processed_transcript|CODING|ENST00000523970||T),INTRON(MODIFIER||||1830|DOCK2|protein_coding|CODING|ENST00000256935|27|T),INTRON(MODIFIER||||1031|DOCK2|nonsense_mediated_decay|CODING|ENST00000524185|27|T),INTRON(MODIFIER||||891|DOCK2|protein_coding|CODING|ENST00000540750|13|T),INTRON(MODIFIER||||1322|DOCK2|protein_coding|CODING|ENST00000520908|13|T),INTRON(MODIFIER||||161|DOCK2|protein_coding|CODING|ENST00000519628|4|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DOCK2|processed_transcript|CODING|ENST00000523351|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 169309687 Proband 73 G A . . Gene=FAM196B;MT=SNP;MM=CM;CADD=24.9;VMM=86.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R406W|535|FAM196B|protein_coding|CODING|ENST00000377365|2|A),DOWNSTREAM(MODIFIER||1692|||FAM196B|processed_transcript|CODING|ENST00000523970||A),INTRON(MODIFIER||||1830|DOCK2|protein_coding|CODING|ENST00000256935|27|A),INTRON(MODIFIER||||1031|DOCK2|nonsense_mediated_decay|CODING|ENST00000524185|27|A),INTRON(MODIFIER||||891|DOCK2|protein_coding|CODING|ENST00000540750|13|A),INTRON(MODIFIER||||1322|DOCK2|protein_coding|CODING|ENST00000520908|13|A),INTRON(MODIFIER||||161|DOCK2|protein_coding|CODING|ENST00000519628|4|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DOCK2|processed_transcript|CODING|ENST00000523351|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 36210404 Proband 74 G GC . . Gene=KMT2B;MT=INDEL;MM=DN;CADD=25.9;VMM=0;EFF=FRAME_SHIFT(HIGH||gcc/gCcc|A133A?|2715|KMT2B|protein_coding|CODING|ENST00000222270|2|GC),FRAME_SHIFT(HIGH||gcc/gCcc|A133A?|582|KMT2B|protein_coding|CODING|ENST00000341701|2|GC),FRAME_SHIFT(HIGH||gcc/gCcc|A133A?|2715|KMT2B|protein_coding|CODING|ENST00000420124|2|GC),DOWNSTREAM(MODIFIER||2465||487|ZBTB32|protein_coding|CODING|ENST00000262630||GC),DOWNSTREAM(MODIFIER||2465||487|ZBTB32|protein_coding|CODING|ENST00000392197||GC),DOWNSTREAM(MODIFIER||3006||70|ZBTB32|protein_coding|CODING|ENST00000426659||GC|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2465||302|ZBTB32|nonsense_mediated_decay|CODING|ENST00000481182||GC),EXON(MODIFIER|||||KMT2B|processed_transcript|NON_CODING|ENST00000607650|2|GC),EXON(MODIFIER|||||KMT2B|processed_transcript|NON_CODING|ENST00000606995|2|GC) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33979917 Proband 74 T C . . Gene=CSMD2;MT=SNP;MM=CM;CADD=21.6;VMM=31.59;EFF=UTR_3_PRIME(MODIFIER||5201||3631|CSMD2|protein_coding|CODING|ENST00000373381|71|C),UTR_3_PRIME(MODIFIER||5201||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|70|C),UPSTREAM(MODIFIER||1574|||RP4-580O19.2|processed_pseudogene|NON_CODING|ENST00000424879||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34006680 Proband 74 C T . . Gene=CSMD2;MT=SNP;MM=CM;CADD=13.23;VMM=31.59;EFF=INTRON(MODIFIER||||3631|CSMD2|protein_coding|CODING|ENST00000373381|59|T),INTRON(MODIFIER||||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|58|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 47666614 Proband 74 G C . . Gene=MCM3AP;MT=SNP;MM=CM;CADD=12.58;VMM=39.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Gag|Q1493E|1980|MCM3AP|protein_coding|CODING|ENST00000291688|21|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Gag|Q1493E|1980|MCM3AP|protein_coding|CODING|ENST00000397708|22|C),UPSTREAM(MODIFIER||190|||AP001469.7|antisense|NON_CODING|ENST00000444966||C),DOWNSTREAM(MODIFIER||2950|||MCM3AP-AS1|antisense|NON_CODING|ENST00000591223||C),DOWNSTREAM(MODIFIER||3701|||MCM3AP-AS1|antisense|NON_CODING|ENST00000432735||C),DOWNSTREAM(MODIFIER||3701|||MCM3AP-AS1|antisense|NON_CODING|ENST00000444998||C),DOWNSTREAM(MODIFIER||3701|||MCM3AP-AS1|antisense|NON_CODING|ENST00000421927||C),DOWNSTREAM(MODIFIER||1835|||MCM3AP-AS1|antisense|NON_CODING|ENST00000588753||C),DOWNSTREAM(MODIFIER||4815|||MCM3AP|processed_transcript|CODING|ENST00000481113||C),DOWNSTREAM(MODIFIER||4849|||AP001469.9|antisense|NON_CODING|ENST00000447037||C),INTRON(MODIFIER|||||MCM3AP-AS1|antisense|NON_CODING|ENST00000414659|3|C),INTRON(MODIFIER|||||MCM3AP-AS1|antisense|NON_CODING|ENST00000590829|2|C),INTRON(MODIFIER|||||MCM3AP-AS1|antisense|NON_CODING|ENST00000455567|2|C),EXON(MODIFIER|||||MCM3AP|processed_transcript|CODING|ENST00000467026|6|C),EXON(MODIFIER|||||MCM3AP|retained_intron|CODING|ENST00000496607|11|C),EXON(MODIFIER|||||MCM3AP|retained_intron|CODING|ENST00000486937|12|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 47692533 Proband 74 C T . . Gene=MCM3AP;MT=SNP;MM=CM;CADD=28.6;VMM=39.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E803K|1980|MCM3AP|protein_coding|CODING|ENST00000291688|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E803K|1980|MCM3AP|protein_coding|CODING|ENST00000397708|9|T),UPSTREAM(MODIFIER||4557|||MCM3AP|retained_intron|CODING|ENST00000486937||T),EXON(MODIFIER|||||MCM3AP|processed_transcript|CODING|ENST00000479557|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115783019 Proband 74 C T . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=18.08;VMM=35.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G812S|1047|SEMA6A|protein_coding|CODING|ENST00000257414|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G795S|1030|SEMA6A|protein_coding|CODING|ENST00000343348|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G222S|457|SEMA6A|protein_coding|CODING|ENST00000513137|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G272S|507|SEMA6A|protein_coding|CODING|ENST00000282394|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G309S|544|SEMA6A|protein_coding|CODING|ENST00000515129|6|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G174S|409|SEMA6A|protein_coding|CODING|ENST00000503865|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G795S|1030|SEMA6A|protein_coding|CODING|ENST00000510263|19|T),UPSTREAM(MODIFIER||2189|||AC010296.1|pseudogene|NON_CODING|ENST00000542571||T),UPSTREAM(MODIFIER||280|||CTB-118N6.3|antisense|NON_CODING|ENST00000508424||T),UPSTREAM(MODIFIER||224|||CTB-118N6.3|antisense|NON_CODING|ENST00000512128||T),UPSTREAM(MODIFIER||2301|||CTB-118N6.3|antisense|NON_CODING|ENST00000510682||T),UPSTREAM(MODIFIER||2305|||CTB-118N6.3|antisense|NON_CODING|ENST00000508640||T),UPSTREAM(MODIFIER||2407|||CTB-118N6.3|antisense|NON_CODING|ENST00000514214||T),DOWNSTREAM(MODIFIER||365|||SEMA6A|processed_transcript|CODING|ENST00000506114||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 115910058 Proband 74 C A . . Gene=SEMA6A;MT=SNP;MM=CM;CADD=17.03;VMM=35.03;EFF=UTR_5_PRIME(MODIFIER||69418||1047|SEMA6A|protein_coding|CODING|ENST00000257414|1|A),UTR_5_PRIME(MODIFIER||69418||1030|SEMA6A|protein_coding|CODING|ENST00000343348|1|A),UPSTREAM(MODIFIER||120|||CTB-118N6.2|lincRNA|NON_CODING|ENST00000508766||A),UPSTREAM(MODIFIER||128|||SEMA6A|processed_transcript|CODING|ENST00000512156||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 120317731 Proband 75 G A . . Gene=ARHGEF12;MT=SNP;MM=CM;CADD=34;VMM=56.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R509Q|1544|ARHGEF12|protein_coding|CODING|ENST00000397843|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R490Q|1525|ARHGEF12|protein_coding|CODING|ENST00000356641|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R406Q|1441|ARHGEF12|protein_coding|CODING|ENST00000532993|18|A),UPSTREAM(MODIFIER||1472|||ARHGEF12|retained_intron|CODING|ENST00000532823||A),UPSTREAM(MODIFIER||2253|||ARHGEF12|retained_intron|CODING|ENST00000525222||A),EXON(MODIFIER|||||ARHGEF12|retained_intron|CODING|ENST00000529970|18|A),EXON(MODIFIER|||||ARHGEF12|retained_intron|CODING|ENST00000528225|6|A),EXON(MODIFIER|||||ARHGEF12|retained_intron|CODING|ENST00000525960|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 120355028 Proband 75 T C . . Gene=ARHGEF12;MT=SNP;MM=CM;CADD=14.12;VMM=56.09;EFF=DOWNSTREAM(MODIFIER||4212|||ARHGEF12|retained_intron|CODING|ENST00000526067||C),INTRON(MODIFIER||||1544|ARHGEF12|protein_coding|CODING|ENST00000397843|39|C),INTRON(MODIFIER||||1525|ARHGEF12|protein_coding|CODING|ENST00000356641|38|C),INTRON(MODIFIER||||1441|ARHGEF12|protein_coding|CODING|ENST00000532993|39|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 100425248 Proband 75 T A . . Gene=CLYBL;MT=SNP;MM=CM;CADD=34;VMM=30.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V78E|340|CLYBL|protein_coding|CODING|ENST00000339105|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V78E|306|CLYBL|protein_coding|CODING|ENST00000376355|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V78E|302|CLYBL|protein_coding|CODING|ENST00000444838|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V78E|340|CLYBL|protein_coding|CODING|ENST00000376360|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gAg|V78E|306|CLYBL|protein_coding|CODING|ENST00000376354|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 100523183 Proband 75 T G . . Gene=CLYBL;MT=SNP;MM=CM;CADD=8.976;VMM=30.28;EFF=UPSTREAM(MODIFIER||89||89|CLYBL|protein_coding|CODING|ENST00000425186||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||340|CLYBL|protein_coding|CODING|ENST00000339105|6|G),INTRON(MODIFIER||||306|CLYBL|protein_coding|CODING|ENST00000376355|5|G),INTRON(MODIFIER||||302|CLYBL|protein_coding|CODING|ENST00000444838|5|G),INTRON(MODIFIER||||340|CLYBL|protein_coding|CODING|ENST00000376360|6|G),INTRON(MODIFIER||||306|CLYBL|protein_coding|CODING|ENST00000376354|5|G),INTRON(MODIFIER||||103|CLYBL|protein_coding|CODING|ENST00000419700|1|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50716599 Proband 75 G A . . Gene=USP8;MT=SNP;MM=CM;CADD=18.71;VMM=42.32;EFF=UTR_5_PRIME(MODIFIER||14672||1118|USP8|protein_coding|CODING|ENST00000307179|1|A),UTR_5_PRIME(MODIFIER||14672||95|USP8|protein_coding|CODING|ENST00000560297|1|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||14672||1118|USP8|protein_coding|CODING|ENST00000433963|1|A),UTR_5_PRIME(MODIFIER||14672||1118|USP8|protein_coding|CODING|ENST00000396444|1|A),UTR_5_PRIME(MODIFIER||14672||1012|USP8|protein_coding|CODING|ENST00000425032|1|A),UPSTREAM(MODIFIER||3|||USP8|processed_transcript|CODING|ENST00000560885||A),UPSTREAM(MODIFIER||3||479|USP8|non_stop_decay|CODING|ENST00000559329||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||13||136|USP8|nonsense_mediated_decay|CODING|ENST00000560730||A),UPSTREAM(MODIFIER||46||72|USP8|protein_coding|CODING|ENST00000560982||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||92||62|USP8|nonsense_mediated_decay|CODING|ENST00000561211||A),UPSTREAM(MODIFIER||2492||134|USP8|protein_coding|CODING|ENST00000558091||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||USP8|processed_transcript|CODING|ENST00000560954|1|A),EXON(MODIFIER|||||USP8|processed_transcript|CODING|ENST00000558892|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50791892 Proband 75 TA T . . Gene=USP8;MT=INDEL;MM=CM;CADD=19.34;VMM=42.32;EFF=UTR_3_PRIME(MODIFIER||608||1118|USP8|protein_coding|CODING|ENST00000307179|20|T),UTR_3_PRIME(MODIFIER||608||1118|USP8|protein_coding|CODING|ENST00000433963|21|T),UTR_3_PRIME(MODIFIER||608||1118|USP8|protein_coding|CODING|ENST00000396444|20|T),UPSTREAM(MODIFIER||2616|||RP11-562A8.5|lincRNA|NON_CODING|ENST00000560159||T),UPSTREAM(MODIFIER||952|||RP11-562A8.4|antisense|NON_CODING|ENST00000560380||T),DOWNSTREAM(MODIFIER||866||334|USP50|protein_coding|CODING|ENST00000532404||T),DOWNSTREAM(MODIFIER||281||1012|USP8|protein_coding|CODING|ENST00000425032||T),DOWNSTREAM(MODIFIER||1|||USP8|retained_intron|CODING|ENST00000419830||T),DOWNSTREAM(MODIFIER||289|||USP8|retained_intron|CODING|ENST00000560379||T),DOWNSTREAM(MODIFIER||1103||61|USP50|nonsense_mediated_decay|CODING|ENST00000559105||T),DOWNSTREAM(MODIFIER||1190|||USP50|processed_transcript|CODING|ENST00000530218||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 6590948 Proband 75 A G . . Gene=SLC13A5;MT=SNP;MM=CM;CADD=29.5;VMM=132.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L492P|568|SLC13A5|protein_coding|CODING|ENST00000433363|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L475P|551|SLC13A5|protein_coding|CODING|ENST00000293800|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L449P|525|SLC13A5|protein_coding|CODING|ENST00000381074|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L48P|93|SLC13A5|protein_coding|CODING|ENST00000570687|2|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2333||205|SLC13A5|protein_coding|CODING|ENST00000572727||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||522|SLC13A5|protein_coding|CODING|ENST00000573648|10|G),EXON(MODIFIER|||||SLC13A5|retained_intron|CODING|ENST00000574580|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 6606350 Proband 75 C T . . Gene=SLC13A5;MT=SNP;MM=CM;CADD=29.8;VMM=132.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G219R|568|SLC13A5|protein_coding|CODING|ENST00000433363|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G202R|551|SLC13A5|protein_coding|CODING|ENST00000293800|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G176R|525|SLC13A5|protein_coding|CODING|ENST00000381074|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G219R|522|SLC13A5|protein_coding|CODING|ENST00000573648|5|T),UTR_3_PRIME(MODIFIER||3729||81|SLC13A5|nonsense_mediated_decay|CODING|ENST00000572094|5|T),DOWNSTREAM(MODIFIER||42||166|SLC13A5|protein_coding|CODING|ENST00000572352||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||850||136|SLC13A5|protein_coding|CODING|ENST00000576323||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1005||91|SLC13A5|nonsense_mediated_decay|CODING|ENST00000575230||T),EXON(MODIFIER|||||SLC13A5|retained_intron|CODING|ENST00000574824|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 54444145 Proband 75 A G . . Gene=WDR7;MT=SNP;MM=CM;CADD=14.6;VMM=32.06;EFF=INTRON(MODIFIER||||1490|WDR7|protein_coding|CODING|ENST00000254442|17|G),INTRON(MODIFIER||||67|WDR7|protein_coding|CODING|ENST00000589935|1|G),INTRON(MODIFIER||||1457|WDR7|protein_coding|CODING|ENST00000357574|16|G),INTRON(MODIFIER|||||WDR7|retained_intron|CODING|ENST00000591524|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 54629886 Proband 75 A G . . Gene=WDR7;MT=SNP;MM=CM;CADD=19.63;VMM=32.06;EFF=INTRON(MODIFIER||||1490|WDR7|protein_coding|CODING|ENST00000254442|26|G),INTRON(MODIFIER||||67|WDR7|protein_coding|CODING|ENST00000589935|1|G),INTRON(MODIFIER||||1457|WDR7|protein_coding|CODING|ENST00000357574|25|G),INTRON(MODIFIER||||61|WDR7|nonsense_mediated_decay|CODING|ENST00000591449|5|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||39|WDR7|protein_coding|CODING|ENST00000585669|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 91731668 Proband 76 T A . . Gene=HFM1;MT=SNP;MM=CM;CADD=13.26;VMM=40.16;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1435|HFM1|protein_coding|CODING|ENST00000370425|35|A),SPLICE_SITE_REGION+INTRON(LOW||||1114|HFM1|protein_coding|CODING|ENST00000370424|31|A),SPLICE_SITE_REGION+INTRON(LOW||||624|HFM1|protein_coding|CODING|ENST00000430465|16|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4387|||Y_RNA|misc_RNA|NON_CODING|ENST00000384090||A),INTRON(MODIFIER|||||HFM1|processed_transcript|CODING|ENST00000462405|18|A),INTRON(MODIFIER||||551|HFM1|protein_coding|CODING|ENST00000294696|35|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 91809014 Proband 76 C T . . Gene=HFM1;MT=SNP;MM=CM;CADD=27;VMM=40.16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D770N|1435|HFM1|protein_coding|CODING|ENST00000370425|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2N|551|HFM1|protein_coding|CODING|ENST00000294696|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D449N|1114|HFM1|protein_coding|CODING|ENST00000370424|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D25N|624|HFM1|protein_coding|CODING|ENST00000430465|2|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||HFM1|processed_transcript|CODING|ENST00000462405|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57647558 Proband 76 AT A . . Gene=R3HDM2;MT=INDEL;MM=CM;CADD=18.88;VMM=52.31;EFF=UTR_3_PRIME(MODIFIER||997||976|R3HDM2|protein_coding|CODING|ENST00000347140|24|A),UTR_3_PRIME(MODIFIER||997||976|R3HDM2|protein_coding|CODING|ENST00000358907|22|A),UTR_3_PRIME(MODIFIER||997||990|R3HDM2|protein_coding|CODING|ENST00000402412|24|A),UPSTREAM(MODIFIER||2583||364|STAC3|protein_coding|CODING|ENST00000332782||A),UPSTREAM(MODIFIER||2592||325|STAC3|protein_coding|CODING|ENST00000554578||A),UPSTREAM(MODIFIER||2590||104|STAC3|nonsense_mediated_decay|CODING|ENST00000557176||A),UPSTREAM(MODIFIER||2591||178|STAC3|protein_coding|CODING|ENST00000546246||A),UPSTREAM(MODIFIER||2588||167|STAC3|protein_coding|CODING|ENST00000553489||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2590|||STAC3|retained_intron|CODING|ENST00000553294||A),DOWNSTREAM(MODIFIER||980||1010|R3HDM2|protein_coding|CODING|ENST00000403821||A),DOWNSTREAM(MODIFIER||949||671|R3HDM2|protein_coding|CODING|ENST00000441731||A),DOWNSTREAM(MODIFIER||957||741|R3HDM2|protein_coding|CODING|ENST00000429355||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2238||266|R3HDM2|protein_coding|CODING|ENST00000548161||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4304|||R3HDM2|processed_transcript|CODING|ENST00000546843||A),INTRON(MODIFIER||||64|RP11-123K3.4|nonsense_mediated_decay|CODING|ENST00000548184|13|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||596|R3HDM2|protein_coding|CODING|ENST00000413953|13|A),EXON(MODIFIER|||||R3HDM2|retained_intron|CODING|ENST00000393811|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57690222 Proband 76 T C . . Gene=R3HDM2;MT=SNP;MM=CM;CADD=22.9;VMM=52.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I16V|64|RP11-123K3.4|nonsense_mediated_decay|CODING|ENST00000548184|1|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I225V|1010|R3HDM2|protein_coding|CODING|ENST00000403821|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I225V|976|R3HDM2|protein_coding|CODING|ENST00000347140|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I225V|976|R3HDM2|protein_coding|CODING|ENST00000358907|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I225V|990|R3HDM2|protein_coding|CODING|ENST00000402412|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I113V|279|R3HDM2|protein_coding|CODING|ENST00000547262|4|C|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||964||596|R3HDM2|protein_coding|CODING|ENST00000413953|1|C),UPSTREAM(MODIFIER||960||741|R3HDM2|protein_coding|CODING|ENST00000429355||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||845|||R3HDM2|retained_intron|CODING|ENST00000547019||C),DOWNSTREAM(MODIFIER||1324|||R3HDM2|processed_transcript|CODING|ENST00000552428||C),DOWNSTREAM(MODIFIER||1565|||R3HDM2|retained_intron|CODING|ENST00000551465||C),EXON(MODIFIER|||||R3HDM2|retained_intron|CODING|ENST00000393811|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 23886409 Proband 76 G C . . Gene=MYH7;MT=SNP;MM=CM;CADD=22.6;VMM=31.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tGc|S1491C|1935|MYH7|protein_coding|CODING|ENST00000355349|32|C),DOWNSTREAM(MODIFIER||1514|||CTD-2201G16.1|antisense|NON_CODING|ENST00000557368||C),DOWNSTREAM(MODIFIER||787|||MIR208B|miRNA|NON_CODING|ENST00000401172||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 23897537 Proband 76 G A . . Gene=MYH7;MT=SNP;MM=CM;CADD=12.83;VMM=31.91;EFF=INTRON(MODIFIER||||1935|MYH7|protein_coding|CODING|ENST00000355349|15|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2144014 Proband 76 C G . . Gene=PKD1;MT=SNP;MM=CM;CADD=17.99;VMM=55.11;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGa/gCa|G3540A|4303|PKD1|protein_coding|CODING|ENST00000262304|36|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGa/gCa|G3539A|4302|PKD1|protein_coding|CODING|ENST00000423118|36|G),SPLICE_SITE_REGION(LOW||||1122|PKD1|nonsense_mediated_decay|CODING|ENST00000487932|23|G|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_REGION+EXON(LOW|||||PKD1|retained_intron|CODING|ENST00000472659|2|G),UTR_3_PRIME(MODIFIER||8942||1122|PKD1|nonsense_mediated_decay|CODING|ENST00000487932|23|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3729|||MIR1225|miRNA|NON_CODING|ENST00000408729||G),UPSTREAM(MODIFIER||3174|||PKD1|retained_intron|CODING|ENST00000472577||G),UPSTREAM(MODIFIER||2000|||PKD1|retained_intron|CODING|ENST00000564313||G),UPSTREAM(MODIFIER||1843||44|PKD1|nonsense_mediated_decay|CODING|ENST00000561668||G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1416|||PKD1|retained_intron|CODING|ENST00000485120||G),UPSTREAM(MODIFIER||129||90|PKD1|nonsense_mediated_decay|CODING|ENST00000562425||G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1102|||PKD1|retained_intron|CODING|ENST00000567355||G),UPSTREAM(MODIFIER||140|||PKD1|retained_intron|CODING|ENST00000568796||G),DOWNSTREAM(MODIFIER||817|||RP11-304L19.3|sense_intronic|NON_CODING|ENST00000565937||G),DOWNSTREAM(MODIFIER||3715|||PKD1|retained_intron|CODING|ENST00000570253||G),DOWNSTREAM(MODIFIER||3715|||PKD1|retained_intron|CODING|ENST00000562297||G),DOWNSTREAM(MODIFIER||3715||605|PKD1|protein_coding|CODING|ENST00000567946||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3715|||PKD1|retained_intron|CODING|ENST00000486339||G),DOWNSTREAM(MODIFIER||3715|||PKD1|retained_intron|CODING|ENST00000415938||G),DOWNSTREAM(MODIFIER||3715|||PKD1|retained_intron|CODING|ENST00000483731||G),DOWNSTREAM(MODIFIER||3739|||PKD1|processed_transcript|CODING|ENST00000566905||G),DOWNSTREAM(MODIFIER||3839|||PKD1|retained_intron|CODING|ENST00000496574||G),DOWNSTREAM(MODIFIER||3846|||PKD1|processed_transcript|CODING|ENST00000566784||G),DOWNSTREAM(MODIFIER||4820|||PKD1|retained_intron|CODING|ENST00000471603||G),INTRON(MODIFIER|||||RP11-304L19.1|sense_overlapping|NON_CODING|ENST00000570072|2|G),INTRON(MODIFIER|||||RP11-304L19.1|sense_overlapping|NON_CODING|ENST00000563284|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2153594 Proband 76 C T . . Gene=PKD1;MT=SNP;MM=CM;CADD=25.2;VMM=55.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2822M|4303|PKD1|protein_coding|CODING|ENST00000262304|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2822M|4302|PKD1|protein_coding|CODING|ENST00000423118|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1051M|1122|PKD1|nonsense_mediated_decay|CODING|ENST00000487932|9|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3293|||PKD1|retained_intron|CODING|ENST00000570253||T),UPSTREAM(MODIFIER||3140|||PKD1|processed_transcript|CODING|ENST00000566905||T),UPSTREAM(MODIFIER||3700|||PKD1|processed_transcript|CODING|ENST00000566784||T),UPSTREAM(MODIFIER||3186|||PKD1|processed_transcript|CODING|ENST00000570193||T),UPSTREAM(MODIFIER||2907|||PKD1|retained_intron|CODING|ENST00000469851||T),UPSTREAM(MODIFIER||2828|||PKD1|retained_intron|CODING|ENST00000483814||T),UPSTREAM(MODIFIER||416|||PKD1|retained_intron|CODING|ENST00000474088||T),UPSTREAM(MODIFIER||62|||PKD1|processed_transcript|CODING|ENST00000475889||T),DOWNSTREAM(MODIFIER||196|||PKD1|retained_intron|CODING|ENST00000565639||T),DOWNSTREAM(MODIFIER||1764|||PKD1|processed_transcript|CODING|ENST00000564865||T),DOWNSTREAM(MODIFIER||1785|||PKD1|retained_intron|CODING|ENST00000564890||T),DOWNSTREAM(MODIFIER||2683|||PKD1|processed_transcript|CODING|ENST00000483558||T),DOWNSTREAM(MODIFIER||2910||200|PKD1|nonsense_mediated_decay|CODING|ENST00000568591||T),DOWNSTREAM(MODIFIER||2928|||PKD1|retained_intron|CODING|ENST00000569983||T),DOWNSTREAM(MODIFIER||2997||153|PKD1|protein_coding|CODING|ENST00000483024||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3348||244|PKD1|protein_coding|CODING|ENST00000488185||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3992|||PKD1|processed_transcript|CODING|ENST00000473780||T),INTRON(MODIFIER||||605|PKD1|protein_coding|CODING|ENST00000567946|3|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000562297|1|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000486339|6|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000415938|9|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000483731|11|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000496574|7|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000471603|1|T),EXON(MODIFIER|||||PKD1|retained_intron|CODING|ENST00000480227|1|T),EXON(MODIFIER|||||PKD1|processed_transcript|CODING|ENST00000561991|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15814883 Proband 76 C T . . Gene=MYH11;MT=SNP;MM=CM;CADD=35;VMM=140.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1542Q|1979|MYH11|protein_coding|CODING|ENST00000396324|34|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1542Q|1945|MYH11|protein_coding|CODING|ENST00000452625|34|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1535Q|1938|MYH11|protein_coding|CODING|ENST00000576790|33|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1535Q|1972|MYH11|protein_coding|CODING|ENST00000300036|33|T),UPSTREAM(MODIFIER||467|||NDE1|processed_transcript|CODING|ENST00000572503||T),UPSTREAM(MODIFIER||611|||NDE1|processed_transcript|CODING|ENST00000571896||T),INTRON(MODIFIER||||335|NDE1|protein_coding|CODING|ENST00000396355|9|T),INTRON(MODIFIER||||335|NDE1|protein_coding|CODING|ENST00000396354|8|T),INTRON(MODIFIER||||335|NDE1|protein_coding|CODING|ENST00000342673|7|T),INTRON(MODIFIER||||135|NDE1|protein_coding|CODING|ENST00000573694|3|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||139|NDE1|protein_coding|CODING|ENST00000572967|4|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||MYH11|retained_intron|CODING|ENST00000576164|2|T),EXON(MODIFIER|||||MYH11|retained_intron|CODING|ENST00000571275|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15880509 Proband 76 C A . . Gene=MYH11+BB890:B947;MT=SNP;MM=CM;CADD=26.3;VMM=140.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G204V|1979|MYH11|protein_coding|CODING|ENST00000396324|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G204V|1945|MYH11|protein_coding|CODING|ENST00000452625|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G204V|1938|MYH11|protein_coding|CODING|ENST00000576790|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G204V|1972|MYH11|protein_coding|CODING|ENST00000300036|5|A),UPSTREAM(MODIFIER||3120|||MYH11|retained_intron|CODING|ENST00000570785||A),EXON(MODIFIER|||||MYH11|retained_intron|CODING|ENST00000571505|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 69079256 Proband 76 C T . . Gene=TMF1;MT=SNP;MM=CM;CADD=14.64;VMM=30.07;EFF=UPSTREAM(MODIFIER||4005|||TMF1|processed_transcript|CODING|ENST00000489370||T),UPSTREAM(MODIFIER||4991|||CTD-2013N24.2|antisense|NON_CODING|ENST00000596274||T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000482368|1|T),INTRON(MODIFIER||||1096|TMF1|protein_coding|CODING|ENST00000543976|10|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000597950|2|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000598783|2|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000596523|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000596732|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000601511|2|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000599467|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000595925|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000601735|2|T),INTRON(MODIFIER||||1093|TMF1|protein_coding|CODING|ENST00000398559|10|T),INTRON(MODIFIER||||775|TMF1|nonsense_mediated_decay|CODING|ENST00000488010|9|T),EXON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000597366|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 69096928 Proband 76 A T . . Gene=TMF1;MT=SNP;MM=CM;CADD=18.45;VMM=30.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F310I|1096|TMF1|protein_coding|CODING|ENST00000543976|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F310I|1093|TMF1|protein_coding|CODING|ENST00000398559|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Atc|F310I|775|TMF1|nonsense_mediated_decay|CODING|ENST00000488010|2|T),UPSTREAM(MODIFIER||3149|||TMF1|retained_intron|CODING|ENST00000477872||T),DOWNSTREAM(MODIFIER||1181|||MIR3136|miRNA|NON_CODING|ENST00000583498||T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000482368|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000597950|2|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000598783|3|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000596523|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000596732|2|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000595925|1|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000601735|3|T),INTRON(MODIFIER|||||CTD-2013N24.2|antisense|NON_CODING|ENST00000596274|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 139353937 Proband 76 C T . . Gene=SEC16A;MT=SNP;MM=CM;CADD=13.49;VMM=35.71;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1754|2357|SEC16A|protein_coding|CODING|ENST00000313050|14|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T148|751|SEC16A|protein_coding|CODING|ENST00000277537|5|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T476|1059|SEC16A|protein_coding|CODING|ENST00000453963|11|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1576|2134|SEC16A|protein_coding|CODING|ENST00000371706|14|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1576|2159|SEC16A|protein_coding|CODING|ENST00000290037|14|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T1576|2154|SEC16A|protein_coding|CODING|ENST00000431893|14|T),DOWNSTREAM(MODIFIER||3458|||SEC16A|processed_transcript|CODING|ENST00000472305||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 139369091 Proband 76 C T . . Gene=SEC16A;MT=SNP;MM=CM;CADD=23.7;VMM=35.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A993T|2357|SEC16A|protein_coding|CODING|ENST00000313050|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A815T|2134|SEC16A|protein_coding|CODING|ENST00000371706|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A815T|2159|SEC16A|protein_coding|CODING|ENST00000290037|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A815T|2154|SEC16A|protein_coding|CODING|ENST00000431893|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 47908950 Proband 77 AC A . . Gene=MAP4;MT=INDEL;MM=DN;CADD=16.06;VMM=0;EFF=DOWNSTREAM(MODIFIER||1751||710|MAP4|protein_coding|CODING|ENST00000383736||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3787|||MAP4|processed_transcript|CODING|ENST00000462206||A),INTRON(MODIFIER||||2297|MAP4|protein_coding|CODING|ENST00000426837|16|A),INTRON(MODIFIER||||887|MAP4|protein_coding|CODING|ENST00000264724|7|A),INTRON(MODIFIER||||811|MAP4|protein_coding|CODING|ENST00000383737|13|A),INTRON(MODIFIER||||492|MAP4|protein_coding|CODING|ENST00000429422|6|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1135|MAP4|protein_coding|CODING|ENST00000395734|14|A),INTRON(MODIFIER||||1152|MAP4|protein_coding|CODING|ENST00000360240|14|A),INTRON(MODIFIER||||828|MAP4|protein_coding|CODING|ENST00000420772|4|A),INTRON(MODIFIER||||249|MAP4|protein_coding|CODING|ENST00000441748|5|A),INTRON(MODIFIER||||463|MAP4|protein_coding|CODING|ENST00000335271|5|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 3226800 Proband 77 G A . . Gene=TUBB2B;MT=SNP;MM=DN;CADD=23.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A54V|445|TUBB2B|protein_coding|CODING|ENST00000259818|2|A),UPSTREAM(MODIFIER||4837||35|PSMG4|nonsense_mediated_decay|CODING|ENST00000509933||A),EXON(MODIFIER|||||TUBB2B|processed_transcript|CODING|ENST00000473006|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 4788068 Proband 77 G A . . Gene=MINK1;MT=SNP;MM=CM;CADD=12.34;VMM=33.51;EFF=DOWNSTREAM(MODIFIER||1477|||RN7SL784P|misc_RNA|NON_CODING|ENST00000577319||A),INTRON(MODIFIER||||1332|MINK1|protein_coding|CODING|ENST00000355280|5|A),INTRON(MODIFIER|||||MINK1|retained_intron|CODING|ENST00000572330|5|A),INTRON(MODIFIER||||1303|MINK1|protein_coding|CODING|ENST00000347992|5|A),INTRON(MODIFIER||||111|MINK1|nonsense_mediated_decay|CODING|ENST00000574453|6|A),INTRON(MODIFIER||||1312|MINK1|protein_coding|CODING|ENST00000453408|5|A),INTRON(MODIFIER||||52|MINK1|nonsense_mediated_decay|CODING|ENST00000577021|5|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||380|MINK1|nonsense_mediated_decay|CODING|ENST00000571207|1|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 4794325 Proband 77 C T . . Gene=MINK1;MT=SNP;MM=CM;CADD=24.8;VMM=33.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P549L|1332|MINK1|protein_coding|CODING|ENST00000355280|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P549L|1303|MINK1|protein_coding|CODING|ENST00000347992|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P549L|1312|MINK1|protein_coding|CODING|ENST00000453408|15|T),UTR_3_PRIME(MODIFIER||9859||111|MINK1|nonsense_mediated_decay|CODING|ENST00000574453|16|T),UTR_3_PRIME(MODIFIER||599||380|MINK1|nonsense_mediated_decay|CODING|ENST00000571207|11|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1441|||MINK1|retained_intron|CODING|ENST00000572629||T),UPSTREAM(MODIFIER||2166|||MINK1|retained_intron|CODING|ENST00000571526||T),UPSTREAM(MODIFIER||2548|||MINK1|retained_intron|CODING|ENST00000572304||T),UPSTREAM(MODIFIER||3514|||MINK1|retained_intron|CODING|ENST00000574871||T),UPSTREAM(MODIFIER||3828|||MINK1|retained_intron|CODING|ENST00000575511||T),EXON(MODIFIER|||||MINK1|retained_intron|CODING|ENST00000572330|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480164 Proband 77 C T . . Gene=ACTR3B;MT=SNP;MM=CM;CADD=18.23;VMM=47.75;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480185 Proband 77 C T . . Gene=ACTR3B;MT=SNP;MM=CM;CADD=22;VMM=47.75;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22161428 Proband 78 C T . . Gene=HSPG2;MT=SNP;MM=CM;CADD=15.74;VMM=30.74;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S3488|4391|HSPG2|protein_coding|CODING|ENST00000374695|77|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S40|186|HSPG2|protein_coding|CODING|ENST00000426143|1|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4222|||HSPG2|processed_transcript|CODING|ENST00000486901||T),UPSTREAM(MODIFIER||1321|||HSPG2|processed_transcript|CODING|ENST00000469378||T),DOWNSTREAM(MODIFIER||218|||HSPG2|processed_transcript|CODING|ENST00000471322||T),DOWNSTREAM(MODIFIER||474||93|HSPG2|protein_coding|CODING|ENST00000374676||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22165358 Proband 78 C T . . Gene=HSPG2;MT=SNP;MM=CM;CADD=17.45;VMM=30.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R47K|93|HSPG2|protein_coding|CODING|ENST00000374676|1|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K3370|4391|HSPG2|protein_coding|CODING|ENST00000374695|74|T),UPSTREAM(MODIFIER||3518||186|HSPG2|protein_coding|CODING|ENST00000426143||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1948|||HSPG2|processed_transcript|CODING|ENST00000471322||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 88676805 Proband 78 CT C . . Gene=BMPR1A;MT=INDEL;MM=CM;CADD=9.47;VMM=32.53;EFF=INTRON(MODIFIER||||532|BMPR1A|protein_coding|CODING|ENST00000372037|8|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 88676975 Proband 78 C T . . Gene=BMPR1A;MT=SNP;MM=CM;CADD=34;VMM=32.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R254C|532|BMPR1A|protein_coding|CODING|ENST00000372037|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 73753106 Proband 78 A G . . Gene=C2CD3;MT=SNP;MM=CM;CADD=28;VMM=99.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1885P|2353|C2CD3|protein_coding|CODING|ENST00000334126|29|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S641P|677|C2CD3|nonsense_mediated_decay|CODING|ENST00000442398|9|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S1885P|1963|C2CD3|protein_coding|CODING|ENST00000313663|29|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S693P|776|C2CD3|protein_coding|CODING|ENST00000414160|10|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S118P|170|C2CD3|protein_coding|CODING|ENST00000538361|3|G),EXON(MODIFIER|||||C2CD3|processed_transcript|CODING|ENST00000538625|1|G),EXON(MODIFIER|||||C2CD3|processed_transcript|CODING|ENST00000540452|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 73796878 Proband 78 T C . . Gene=C2CD3;MT=SNP;MM=CM;CADD=25.5;VMM=99.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1232S|2353|C2CD3|protein_coding|CODING|ENST00000334126|21|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N1232S|1963|C2CD3|protein_coding|CODING|ENST00000313663|21|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N40S|776|C2CD3|protein_coding|CODING|ENST00000414160|2|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||38||677|C2CD3|nonsense_mediated_decay|CODING|ENST00000442398||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||234|||C2CD3|processed_transcript|CODING|ENST00000535645||C),EXON(MODIFIER|||||C2CD3|retained_intron|CODING|ENST00000540057|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 129996662 Proband 78 G A . . Gene=APLP2;MT=SNP;MM=CM;CADD=12.87;VMM=39.7;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E386|763|APLP2|protein_coding|CODING|ENST00000263574|8|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E174|551|APLP2|protein_coding|CODING|ENST00000539648|5|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E330|695|APLP2|protein_coding|CODING|ENST00000528499|7|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E157|522|APLP2|protein_coding|CODING|ENST00000345598|4|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E386|751|APLP2|protein_coding|CODING|ENST00000338167|8|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E396|761|APLP2|protein_coding|CODING|ENST00000278756|8|A),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E293|658|APLP2|protein_coding|CODING|ENST00000543137|8|A),UTR_3_PRIME(MODIFIER||6047||39|APLP2|nonsense_mediated_decay|CODING|ENST00000533616|5|A),DOWNSTREAM(MODIFIER||4984|||APLP2|processed_transcript|CODING|ENST00000534001||A),DOWNSTREAM(MODIFIER||4390|||APLP2|processed_transcript|CODING|ENST00000526330||A),DOWNSTREAM(MODIFIER||4297|||APLP2|processed_transcript|CODING|ENST00000529701||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 130011907 Proband 78 G A . . Gene=APLP2;MT=SNP;MM=CM;CADD=27.7;VMM=39.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V710I|763|APLP2|protein_coding|CODING|ENST00000263574|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V498I|551|APLP2|protein_coding|CODING|ENST00000539648|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V642I|695|APLP2|protein_coding|CODING|ENST00000528499|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V469I|522|APLP2|protein_coding|CODING|ENST00000345598|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V698I|751|APLP2|protein_coding|CODING|ENST00000338167|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V708I|761|APLP2|protein_coding|CODING|ENST00000278756|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V605I|658|APLP2|protein_coding|CODING|ENST00000543137|16|A),UTR_3_PRIME(MODIFIER||21292||39|APLP2|nonsense_mediated_decay|CODING|ENST00000533616|14|A),EXON(MODIFIER|||||APLP2|retained_intron|CODING|ENST00000533860|4|A),EXON(MODIFIER|||||APLP2|retained_intron|CODING|ENST00000530493|2|A),EXON(MODIFIER|||||APLP2|retained_intron|CODING|ENST00000525604|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 45425176 Proband 78 C G . . Gene=EFCAB13;MT=SNP;MM=CM;CADD=25.2;VMM=131.7;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ctt/Gtt|L174V|973|EFCAB13|protein_coding|CODING|ENST00000331493|9|G),DOWNSTREAM(MODIFIER||3518||786|ITGB3|nonsense_mediated_decay|CODING|ENST00000560629||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3518||751|ITGB3|protein_coding|CODING|ENST00000435993||G),INTRON(MODIFIER||||103|EFCAB13|protein_coding|CODING|ENST00000517310|9|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||784|EFCAB13|protein_coding|CODING|ENST00000517484|8|G),INTRON(MODIFIER|||||EFCAB13|retained_intron|CODING|ENST00000520776|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 45452257 Proband 78 A T . . Gene=EFCAB13;MT=SNP;MM=CM;CADD=35;VMM=131.7;EFF=STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K433*|973|EFCAB13|protein_coding|CODING|ENST00000331493|12|T),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K337*|784|EFCAB13|protein_coding|CODING|ENST00000517484|10|T),UPSTREAM(MODIFIER||2763|||EFCAB13|retained_intron|CODING|ENST00000522326||T),UPSTREAM(MODIFIER||2925||200|EFCAB13|protein_coding|CODING|ENST00000523842||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||252||103|EFCAB13|protein_coding|CODING|ENST00000517310||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||253|||EFCAB13|processed_transcript|CODING|ENST00000523978||T),EXON(MODIFIER|||||EFCAB13|retained_intron|CODING|ENST00000520776|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 223396798 Proband 79 C T . . Gene=SUSD4;MT=SNP;MM=CM;CADD=29.2;VMM=116.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A413T|490|SUSD4|protein_coding|CODING|ENST00000343846|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A413T|490|SUSD4|protein_coding|CODING|ENST00000366878|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A344T|421|SUSD4|protein_coding|CODING|ENST00000484758|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A413T|488|SUSD4|protein_coding|CODING|ENST00000494793|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A385T|462|SUSD4|protein_coding|CODING|ENST00000608996|7|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A253T|330|SUSD4|protein_coding|CODING|ENST00000454695|9|T),DOWNSTREAM(MODIFIER||4147|||SUSD4|processed_transcript|CODING|ENST00000484503||T),DOWNSTREAM(MODIFIER||4159|||SUSD4|processed_transcript|CODING|ENST00000470249||T),EXON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000478605|6|T),EXON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000483818|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 223402677 Proband 79 G T . . Gene=SUSD4;MT=SNP;MM=CM;CADD=27.4;VMM=116.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P260T|490|SUSD4|protein_coding|CODING|ENST00000343846|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P260T|490|SUSD4|protein_coding|CODING|ENST00000366878|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P191T|421|SUSD4|protein_coding|CODING|ENST00000484758|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P260T|488|SUSD4|protein_coding|CODING|ENST00000494793|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P232T|462|SUSD4|protein_coding|CODING|ENST00000608996|5|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P100T|330|SUSD4|protein_coding|CODING|ENST00000454695|7|T),INTRON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000478605|5|T),INTRON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000483818|4|T),EXON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000484503|1|T),EXON(MODIFIER|||||SUSD4|processed_transcript|CODING|ENST00000470249|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 32072385 Proband 79 G C . . Gene=PDZD2;MT=SNP;MM=CM;CADD=24;VMM=54.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S896T|2839|PDZD2|protein_coding|CODING|ENST00000282493|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aCc|S896T|2839|PDZD2|protein_coding|CODING|ENST00000438447|17|C),EXON(MODIFIER|||||PDZD2|retained_intron|CODING|ENST00000502489|16|C),EXON(MODIFIER|||||PDZD2|processed_transcript|CODING|ENST00000513184|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 32074462 Proband 79 G A . . Gene=PDZD2;MT=SNP;MM=CM;CADD=18.7;VMM=54.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1084T|2839|PDZD2|protein_coding|CODING|ENST00000282493|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1084T|2839|PDZD2|protein_coding|CODING|ENST00000438447|18|A),UPSTREAM(MODIFIER||3104|||PDZD2|processed_transcript|CODING|ENST00000503961||A),DOWNSTREAM(MODIFIER||2039|||PDZD2|processed_transcript|CODING|ENST00000513184||A),EXON(MODIFIER|||||PDZD2|retained_intron|CODING|ENST00000502489|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 87366976 Proband 79 A G . . Gene=NTRK2;MT=SNP;MM=CM;CADD=24.6;VMM=38.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|838|NTRK2|protein_coding|CODING|ENST00000277120|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|822|NTRK2|protein_coding|CODING|ENST00000376213|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|838|NTRK2|protein_coding|CODING|ENST00000376214|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|477|NTRK2|protein_coding|CODING|ENST00000395882|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|553|NTRK2|protein_coding|CODING|ENST00000304053|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|537|NTRK2|protein_coding|CODING|ENST00000376208|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|822|NTRK2|protein_coding|CODING|ENST00000323115|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R458G|477|NTRK2|protein_coding|CODING|ENST00000359847|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aga/Gga|R302G|321|NTRK2|protein_coding|CODING|ENST00000395866|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 87427412 Proband 79 A G . . Gene=NTRK2;MT=SNP;MM=CM;CADD=13.76;VMM=38.1;EFF=UTR_3_PRIME(MODIFIER||1918||477|NTRK2|protein_coding|CODING|ENST00000395882|13|G),UTR_3_PRIME(MODIFIER||1918||477|NTRK2|protein_coding|CODING|ENST00000359847|12|G),DOWNSTREAM(MODIFIER||1434||321|NTRK2|protein_coding|CODING|ENST00000395866||G),INTRON(MODIFIER||||838|NTRK2|protein_coding|CODING|ENST00000277120|12|G),INTRON(MODIFIER||||822|NTRK2|protein_coding|CODING|ENST00000376213|14|G),INTRON(MODIFIER||||838|NTRK2|protein_coding|CODING|ENST00000376214|14|G),INTRON(MODIFIER||||553|NTRK2|protein_coding|CODING|ENST00000304053|12|G),INTRON(MODIFIER||||537|NTRK2|protein_coding|CODING|ENST00000376208|12|G),INTRON(MODIFIER||||822|NTRK2|protein_coding|CODING|ENST00000323115|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 151171381 Proband 80 C T . . Gene=PIP5K1A;MT=SNP;MM=HR;CADD=18.94;VMM=0;EFF=START_GAINED(LOW||||562|PIP5K1A|protein_coding|CODING|ENST00000368888|1|T),START_GAINED(LOW||||549|PIP5K1A|protein_coding|CODING|ENST00000349792|1|T),START_GAINED(LOW||||550|PIP5K1A|protein_coding|CODING|ENST00000409426|1|T),START_GAINED(LOW||||522|PIP5K1A|protein_coding|CODING|ENST00000441902|1|T),START_GAINED(LOW||||500|PIP5K1A|protein_coding|CODING|ENST00000368890|1|T),START_GAINED(LOW||||40|PIP5K1A|protein_coding|CODING|ENST00000424999|1|T|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||39|PIP5K1A|nonsense_mediated_decay|CODING|ENST00000454769|1|T),UTR_5_PRIME(MODIFIER||92||562|PIP5K1A|protein_coding|CODING|ENST00000368888|1|T),UTR_5_PRIME(MODIFIER||92||549|PIP5K1A|protein_coding|CODING|ENST00000349792|1|T),UTR_5_PRIME(MODIFIER||92||550|PIP5K1A|protein_coding|CODING|ENST00000409426|1|T),UTR_5_PRIME(MODIFIER||92||522|PIP5K1A|protein_coding|CODING|ENST00000441902|1|T),UTR_5_PRIME(MODIFIER||92||500|PIP5K1A|protein_coding|CODING|ENST00000368890|1|T),UTR_5_PRIME(MODIFIER||92||40|PIP5K1A|protein_coding|CODING|ENST00000424999|1|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||92||39|PIP5K1A|nonsense_mediated_decay|CODING|ENST00000454769|1|T),UPSTREAM(MODIFIER||3584|||VPS72|processed_transcript|CODING|ENST00000463470||T),INTRON(MODIFIER||||100|PIP5K1A|protein_coding|CODING|ENST00000447555|1|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 41615579 Proband 80 C T . . Gene=LIMCH1;MT=SNP;MM=CM;CADD=34;VMM=38.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R36C|1467|LIMCH1|protein_coding|CODING|ENST00000503057|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R36C|910|LIMCH1|protein_coding|CODING|ENST00000513024|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R36C|153|LIMCH1|protein_coding|CODING|ENST00000509638|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R195C|1056|LIMCH1|protein_coding|CODING|ENST00000508501|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R195C|1057|LIMCH1|protein_coding|CODING|ENST00000512946|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R195C|1083|LIMCH1|protein_coding|CODING|ENST00000313860|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R195C|980|LIMCH1|protein_coding|CODING|ENST00000512632|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R195C|1069|LIMCH1|protein_coding|CODING|ENST00000512820|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R36C|125|LIMCH1|protein_coding|CODING|ENST00000446625|7|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R36C|897|LIMCH1|protein_coding|CODING|ENST00000511496|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R48C|897|LIMCH1|protein_coding|CODING|ENST00000514096|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R41C|916|LIMCH1|protein_coding|CODING|ENST00000509277|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R43C|160|LIMCH1|protein_coding|CODING|ENST00000509454|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R41C|902|LIMCH1|protein_coding|CODING|ENST00000396595|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R41C|890|LIMCH1|protein_coding|CODING|ENST00000381753|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R29C|916|LIMCH1|protein_coding|CODING|ENST00000508466|1|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||5|||LIMCH1|processed_transcript|CODING|ENST00000514190||T),DOWNSTREAM(MODIFIER||28||25|LIMCH1|protein_coding|CODING|ENST00000511424||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 41701116 Proband 80 G A . . Gene=LIMCH1;MT=SNP;MM=CM;CADD=10.77;VMM=38.69;EFF=UTR_3_PRIME(MODIFIER||1914||1083|LIMCH1|protein_coding|CODING|ENST00000313860|27|A),UTR_3_PRIME(MODIFIER||1914||902|LIMCH1|protein_coding|CODING|ENST00000396595|21|A),UTR_3_PRIME(MODIFIER||1914||890|LIMCH1|protein_coding|CODING|ENST00000381753|20|A),DOWNSTREAM(MODIFIER||1285||1467|LIMCH1|protein_coding|CODING|ENST00000503057||A),DOWNSTREAM(MODIFIER||96||910|LIMCH1|protein_coding|CODING|ENST00000513024||A),DOWNSTREAM(MODIFIER||87||1056|LIMCH1|protein_coding|CODING|ENST00000508501||A),DOWNSTREAM(MODIFIER||87||1057|LIMCH1|protein_coding|CODING|ENST00000512946||A),DOWNSTREAM(MODIFIER||99||980|LIMCH1|protein_coding|CODING|ENST00000512632||A),DOWNSTREAM(MODIFIER||79||1069|LIMCH1|protein_coding|CODING|ENST00000512820||A),DOWNSTREAM(MODIFIER||1555||897|LIMCH1|protein_coding|CODING|ENST00000511496||A),DOWNSTREAM(MODIFIER||1285||897|LIMCH1|protein_coding|CODING|ENST00000514096||A),DOWNSTREAM(MODIFIER||1557||916|LIMCH1|protein_coding|CODING|ENST00000509277||A),DOWNSTREAM(MODIFIER||1616||916|LIMCH1|protein_coding|CODING|ENST00000508466||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1204|||LIMCH1|processed_transcript|CODING|ENST00000515785||A),DOWNSTREAM(MODIFIER||620|||LIMCH1|processed_transcript|CODING|ENST00000505705||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176940751 Proband 80 C T . . Gene=DDX41;MT=SNP;MM=CM;CADD=35;VMM=111.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E363K|640|DDX41|protein_coding|CODING|ENST00000330503|9|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E345K|622|DDX41|protein_coding|CODING|ENST00000507955|10|T),UTR_3_PRIME(MODIFIER||430||172|DDX41|nonsense_mediated_decay|CODING|ENST00000508279|6|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3893||496|DOK3|protein_coding|CODING|ENST00000357198||T),UPSTREAM(MODIFIER||3365||330|DOK3|protein_coding|CODING|ENST00000312943||T),UPSTREAM(MODIFIER||4873|||DOK3|retained_intron|CODING|ENST00000500323||T),UPSTREAM(MODIFIER||3368||228|DOK3|protein_coding|CODING|ENST00000377112||T),UPSTREAM(MODIFIER||3368||440|DOK3|protein_coding|CODING|ENST00000501403||T),UPSTREAM(MODIFIER||3904||212|DOK3|protein_coding|CODING|ENST00000510380||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3921||155|DOK3|protein_coding|CODING|ENST00000506493||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3924||143|DOK3|protein_coding|CODING|ENST00000502885||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3898||84|DOK3|protein_coding|CODING|ENST00000510898||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2476||42|DOK3|protein_coding|CODING|ENST00000509310||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3368|||DOK3|retained_intron|CODING|ENST00000502380||T),UPSTREAM(MODIFIER||3924|||DOK3|retained_intron|CODING|ENST00000512660||T),UPSTREAM(MODIFIER||2483||12|DOK3|protein_coding|CODING|ENST00000510389||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1205|||DDX41|retained_intron|CODING|ENST00000512334||T),DOWNSTREAM(MODIFIER||1179|||DDX41|retained_intron|CODING|ENST00000512431||T),DOWNSTREAM(MODIFIER||1188||126|DDX41|nonsense_mediated_decay|CODING|ENST00000504781||T),DOWNSTREAM(MODIFIER||1231||201|DDX41|nonsense_mediated_decay|CODING|ENST00000509576||T),DOWNSTREAM(MODIFIER||1272|||DDX41|processed_transcript|CODING|ENST00000506965||T),DOWNSTREAM(MODIFIER||1591|||DDX41|retained_intron|CODING|ENST00000515562||T),DOWNSTREAM(MODIFIER||2022||49|DDX41|nonsense_mediated_decay|CODING|ENST00000510171||T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000505081|7|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000503078|9|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000507900|4|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000504807|2|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000512027|1|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000511040|4|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000513562|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 176942792 Proband 80 C T . . Gene=DDX41;MT=SNP;MM=CM;CADD=22.5;VMM=111.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M173I|640|DDX41|protein_coding|CODING|ENST00000330503|5|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M155I|622|DDX41|protein_coding|CODING|ENST00000507955|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M68I|126|DDX41|nonsense_mediated_decay|CODING|ENST00000504781|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M155I|201|DDX41|nonsense_mediated_decay|CODING|ENST00000509576|6|T),UTR_3_PRIME(MODIFIER||714||49|DDX41|nonsense_mediated_decay|CODING|ENST00000510171|6|T),UPSTREAM(MODIFIER||4517||42|DOK3|protein_coding|CODING|ENST00000509310||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4524||12|DOK3|protein_coding|CODING|ENST00000510389||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3246|||DDX41|retained_intron|CODING|ENST00000512334||T),UPSTREAM(MODIFIER||458|||DDX41|retained_intron|CODING|ENST00000507900||T),UPSTREAM(MODIFIER||1045|||DDX41|retained_intron|CODING|ENST00000504807||T),UPSTREAM(MODIFIER||2007|||DDX41|retained_intron|CODING|ENST00000512027||T),UPSTREAM(MODIFIER||438|||DDX41|retained_intron|CODING|ENST00000511040||T),UPSTREAM(MODIFIER||60||172|DDX41|nonsense_mediated_decay|CODING|ENST00000508279||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||752|||DDX41|retained_intron|CODING|ENST00000513562||T),DOWNSTREAM(MODIFIER||3997||822|FAM193B|protein_coding|CODING|ENST00000514747||T),DOWNSTREAM(MODIFIER||3998||29|FAM193B|nonsense_mediated_decay|CODING|ENST00000513282||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3998|||FAM193B|retained_intron|CODING|ENST00000505569||T),DOWNSTREAM(MODIFIER||3999||120|FAM193B|nonsense_mediated_decay|CODING|ENST00000510479||T),DOWNSTREAM(MODIFIER||3999||448|FAM193B|protein_coding|CODING|ENST00000329540||T),DOWNSTREAM(MODIFIER||3999||789|FAM193B|protein_coding|CODING|ENST00000443375||T),DOWNSTREAM(MODIFIER||3999||142|FAM193B|nonsense_mediated_decay|CODING|ENST00000506955||T),DOWNSTREAM(MODIFIER||4000|||FAM193B|retained_intron|CODING|ENST00000506879||T),DOWNSTREAM(MODIFIER||4000||107|FAM193B|nonsense_mediated_decay|CODING|ENST00000510163||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4001||507|FAM193B|protein_coding|CODING|ENST00000524677||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4140|||FAM193B|processed_transcript|CODING|ENST00000504130||T),DOWNSTREAM(MODIFIER||4265||139|FAM193B|nonsense_mediated_decay|CODING|ENST00000507212||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DDX41|processed_transcript|CODING|ENST00000506965|5|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000505081|4|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000503078|5|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000512431|5|T),EXON(MODIFIER|||||DDX41|retained_intron|CODING|ENST00000515562|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144940621 Proband 80 C T . . Gene=EPPK1;MT=SNP;MM=CM;CADD=18.99;VMM=64.5;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2267|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144942321 Proband 80 C T . . Gene=EPPK1;MT=SNP;MM=CM;CADD=27.1;VMM=64.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1701M|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 32194222 Proband 81 G A . . Gene=BAI2;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1465W|1585|BAI2|protein_coding|CODING|ENST00000373658|30|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1380W|1500|BAI2|protein_coding|CODING|ENST00000398556|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1398W|1499|BAI2|protein_coding|CODING|ENST00000398547|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1465W|1584|BAI2|protein_coding|CODING|ENST00000373655|30|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1365W|1466|BAI2|protein_coding|CODING|ENST00000398542|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1432W|1551|BAI2|protein_coding|CODING|ENST00000257070|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1432W|1551|BAI2|protein_coding|CODING|ENST00000527361|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1074W|1175|BAI2|protein_coding|CODING|ENST00000440175|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1453W|1554|BAI2|protein_coding|CODING|ENST00000398538|27|A),DOWNSTREAM(MODIFIER||2597|||BAI2|processed_transcript|CODING|ENST00000484002||A),EXON(MODIFIER|||||BAI2|processed_transcript|CODING|ENST00000465239|2|A),EXON(MODIFIER|||||BAI2|processed_transcript|CODING|ENST00000465256|8|A),EXON(MODIFIER|||||BAI2|retained_intron|CODING|ENST00000530999|6|A),EXON(MODIFIER|||||BAI2|retained_intron|CODING|ENST00000525655|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 122818593 Proband 81 C G . . Gene=CLIP1;MT=SNP;MM=DN;CADD=24.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K897N|1438|CLIP1|protein_coding|CODING|ENST00000540338|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K775N|1316|CLIP1|protein_coding|CODING|ENST00000361654|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K472N|1013|CLIP1|protein_coding|CODING|ENST00000545889|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K886N|1427|CLIP1|protein_coding|CODING|ENST00000302528|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K886N|1427|CLIP1|protein_coding|CODING|ENST00000358808|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K851N|1392|CLIP1|protein_coding|CODING|ENST00000537178|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K744N|802|CLIP1|protein_coding|CODING|ENST00000540304|12|G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||39|||CLIP1|retained_intron|CODING|ENST00000514271||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15123844 Proband 81 G C . . Gene=PDXDC1;MT=SNP;MM=CM;CADD=29.4;VMM=58.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G462R|806|PDXDC1|protein_coding|CODING|ENST00000563679|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G429R|773|PDXDC1|protein_coding|CODING|ENST00000325823|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G353R|697|PDXDC1|protein_coding|CODING|ENST00000447912|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G444R|498|PDXDC1|protein_coding|CODING|ENST00000535621|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G444R|788|PDXDC1|protein_coding|CODING|ENST00000396410|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G417R|761|PDXDC1|protein_coding|CODING|ENST00000569715|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G416R|760|PDXDC1|protein_coding|CODING|ENST00000450288|15|C),UPSTREAM(MODIFIER||4105|||PDXDC1|retained_intron|CODING|ENST00000565986||C),DOWNSTREAM(MODIFIER||182||429|PDXDC1|protein_coding|CODING|ENST00000455313||C),INTRON(MODIFIER||||64|PDXDC1|nonsense_mediated_decay|CODING|ENST00000562119|4|C),EXON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000570001|16|C),EXON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000566633|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15132364 Proband 81 T C . . Gene=PDXDC1;MT=SNP;MM=CM;CADD=16.34;VMM=58.12;EFF=DOWNSTREAM(MODIFIER||1829||806|PDXDC1|protein_coding|CODING|ENST00000563679||C),DOWNSTREAM(MODIFIER||1829||773|PDXDC1|protein_coding|CODING|ENST00000325823||C),DOWNSTREAM(MODIFIER||2113||697|PDXDC1|protein_coding|CODING|ENST00000447912||C),DOWNSTREAM(MODIFIER||2310||64|PDXDC1|nonsense_mediated_decay|CODING|ENST00000562119||C),DOWNSTREAM(MODIFIER||812||788|PDXDC1|protein_coding|CODING|ENST00000396410||C),DOWNSTREAM(MODIFIER||820|||PDXDC1|retained_intron|CODING|ENST00000570001||C),DOWNSTREAM(MODIFIER||820||761|PDXDC1|protein_coding|CODING|ENST00000569715||C),DOWNSTREAM(MODIFIER||1903||760|PDXDC1|protein_coding|CODING|ENST00000450288||C),DOWNSTREAM(MODIFIER||2420|||PDXDC1|retained_intron|CODING|ENST00000565986||C),DOWNSTREAM(MODIFIER||67||145|NTAN1|protein_coding|CODING|ENST00000568320||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||69||222|NTAN1|protein_coding|CODING|ENST00000566419||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||101|||NTAN1|retained_intron|CODING|ENST00000570292||C),DOWNSTREAM(MODIFIER||3116||27|NTAN1|nonsense_mediated_decay|CODING|ENST00000563940||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||310|NTAN1|protein_coding|CODING|ENST00000287706|9|C),INTRON(MODIFIER||||498|PDXDC1|protein_coding|CODING|ENST00000535621|16|C),INTRON(MODIFIER|||||NTAN1|retained_intron|CODING|ENST00000566542|5|C),INTRON(MODIFIER||||45|NTAN1|nonsense_mediated_decay|CODING|ENST00000565187|8|C),INTRON(MODIFIER||||18|NTAN1|nonsense_mediated_decay|CODING|ENST00000568738|5|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26086079 Proband 81 C G . . Gene=NOS2;MT=SNP;MM=CM;CADD=31;VMM=43.62;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cCg|R1061P|1153|NOS2|protein_coding|CODING|ENST00000313735|26|G),DOWNSTREAM(MODIFIER||4099|||RP1-66C13.3|unprocessed_pseudogene|NON_CODING|ENST00000580112||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 26105579 Proband 81 G A . . Gene=NOS2;MT=SNP;MM=CM;CADD=12.63;VMM=43.62;EFF=INTRON(MODIFIER||||1153|NOS2|protein_coding|CODING|ENST00000313735|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 97845635 Proband 81 C G . . Gene=ANKRD36;MT=SNP;MM=CM;CADD=22.3;VMM=30.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A567G|1941|ANKRD36|protein_coding|CODING|ENST00000420699|24|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A567G|1941|ANKRD36|protein_coding|CODING|ENST00000461153|24|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 97860648 Proband 81 A T . . Gene=ANKRD36;MT=SNP;MM=CM;CADD=12.58;VMM=30.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R849W|1941|ANKRD36|protein_coding|CODING|ENST00000420699|40|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R849W|1941|ANKRD36|protein_coding|CODING|ENST00000461153|40|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170026284 Proband 81 G A . . Gene=LRP2;MT=SNP;MM=CM;CADD=27.4;VMM=66.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H3809Y|4655|LRP2|protein_coding|CODING|ENST00000263816|60|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170030506 Proband 81 C T . . Gene=LRP2;MT=SNP;MM=CM;CADD=19.26;VMM=66.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R3646H|4655|LRP2|protein_coding|CODING|ENST00000263816|56|T),DOWNSTREAM(MODIFIER||3844|||LRP2|processed_transcript|CODING|ENST00000461418||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 49136563 Proband 82 T G . . Gene=QARS;MT=SNP;MM=DN;CADD=26.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T580P|775|QARS|protein_coding|CODING|ENST00000306125|18|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T100P|253|QARS|protein_coding|CODING|ENST00000453392|3|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T569P|764|QARS|protein_coding|CODING|ENST00000414533|18|G),UTR_3_PRIME(MODIFIER||4756||100|QARS|nonsense_mediated_decay|CODING|ENST00000430182|18|G),UPSTREAM(MODIFIER||4767||776|QRICH1|protein_coding|CODING|ENST00000395443||G),UPSTREAM(MODIFIER||4900||102|QRICH1|protein_coding|CODING|ENST00000450685||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4767||102|QRICH1|protein_coding|CODING|ENST00000411682||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1864|||QARS|processed_transcript|CODING|ENST00000475599||G),UPSTREAM(MODIFIER||1013|||QARS|processed_transcript|CODING|ENST00000487495||G),UPSTREAM(MODIFIER||606|||QARS|retained_intron|CODING|ENST00000497635||G),UPSTREAM(MODIFIER||438|||QARS|retained_intron|CODING|ENST00000494984||G),UPSTREAM(MODIFIER||171|||QARS|retained_intron|CODING|ENST00000459870||G),UPSTREAM(MODIFIER||139|||QARS|processed_transcript|CODING|ENST00000466179||G),DOWNSTREAM(MODIFIER||212|||QARS|processed_transcript|CODING|ENST00000482468||G),DOWNSTREAM(MODIFIER||460|||QARS|retained_intron|CODING|ENST00000478561||G),DOWNSTREAM(MODIFIER||1059|||QARS|retained_intron|CODING|ENST00000494838||G),DOWNSTREAM(MODIFIER||1069|||QARS|processed_transcript|CODING|ENST00000470225||G),DOWNSTREAM(MODIFIER||1145|||QARS|retained_intron|CODING|ENST00000494767||G),DOWNSTREAM(MODIFIER||1501||282|QARS|protein_coding|CODING|ENST00000420147||G),DOWNSTREAM(MODIFIER||2489||304|QARS|protein_coding|CODING|ENST00000452739||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2698|||QARS|retained_intron|CODING|ENST00000482261||G),DOWNSTREAM(MODIFIER||3069|||QARS|processed_transcript|CODING|ENST00000470619||G),DOWNSTREAM(MODIFIER||3477|||QARS|processed_transcript|CODING|ENST00000479495||G),DOWNSTREAM(MODIFIER||3536||100|QARS|nonsense_mediated_decay|CODING|ENST00000418549||G),DOWNSTREAM(MODIFIER||3573||181|QARS|protein_coding|CODING|ENST00000417025||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4885|||QARS|retained_intron|CODING|ENST00000482438||G),EXON(MODIFIER|||||QARS|retained_intron|CODING|ENST00000482248|1|G),EXON(MODIFIER|||||QARS|retained_intron|CODING|ENST00000464962|17|G),EXON(MODIFIER|||||QARS|retained_intron|CODING|ENST00000470113|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 79101876 Proband 82 A G . . Gene=FRAS1;MT=SNP;MM=CM;CADD=14.72;VMM=55.54;EFF=DOWNSTREAM(MODIFIER||144|||SERBP1P5|processed_pseudogene|NON_CODING|ENST00000510079||G),INTRON(MODIFIER||||4012|FRAS1|protein_coding|CODING|ENST00000264895|2|G),INTRON(MODIFIER||||737|FRAS1|protein_coding|CODING|ENST00000264899|2|G),INTRON(MODIFIER||||1976|FRAS1|protein_coding|CODING|ENST00000325942|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 79432453 Proband 82 G A . . Gene=FRAS1;MT=SNP;MM=CM;CADD=32;VMM=55.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3269Q|4012|FRAS1|protein_coding|CODING|ENST00000264895|64|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1497Q|2240|FRAS1|protein_coding|CODING|ENST00000512123|26|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 157158585 Proband 82 C A . . Gene=THG1L;MT=SNP;MM=CM;CADD=22.7;VMM=89.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T46N|298|THG1L|protein_coding|CODING|ENST00000231198|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T46N|124|THG1L|nonsense_mediated_decay|CODING|ENST00000521655|1|A),DOWNSTREAM(MODIFIER||1418||63|AC026407.1|protein_coding|CODING|ENST00000599823||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 157159971 Proband 82 A T . . Gene=THG1L;MT=SNP;MM=CM;CADD=29;VMM=89.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D96V|298|THG1L|protein_coding|CODING|ENST00000231198|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D96V|124|THG1L|nonsense_mediated_decay|CODING|ENST00000521655|2|T),UPSTREAM(MODIFIER||4947||33|THG1L|nonsense_mediated_decay|CODING|ENST00000523575||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||32||63|AC026407.1|protein_coding|CODING|ENST00000599823||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152621955 Proband 82 A G . . Gene=SYNE1;MT=SNP;MM=CM;CADD=16.39;VMM=47.34;EFF=INTRON(MODIFIER||||8797|SYNE1|protein_coding|CODING|ENST00000265368|92|G),INTRON(MODIFIER||||8797|SYNE1|protein_coding|CODING|ENST00000367255|92|G),INTRON(MODIFIER||||3321|SYNE1|protein_coding|CODING|ENST00000356820|7|G),INTRON(MODIFIER||||8749|SYNE1|protein_coding|CODING|ENST00000423061|91|G),INTRON(MODIFIER||||8409|SYNE1|protein_coding|CODING|ENST00000341594|93|G),INTRON(MODIFIER||||8749|SYNE1|protein_coding|CODING|ENST00000448038|92|G),INTRON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000409694|5|G),INTRON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000367256|7|G),INTRON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000489156|1|G),INTRON(MODIFIER||||241|SYNE1|protein_coding|CODING|ENST00000540663|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||194|SYNE1|protein_coding|CODING|ENST00000537033|1|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152651971 Proband 82 T G . . Gene=SYNE1;MT=SNP;MM=CM;CADD=24.5;VMM=47.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N4617H|8797|SYNE1|protein_coding|CODING|ENST00000265368|78|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N4617H|8797|SYNE1|protein_coding|CODING|ENST00000367255|78|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N4546H|8749|SYNE1|protein_coding|CODING|ENST00000423061|77|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N4364H|8409|SYNE1|protein_coding|CODING|ENST00000341594|81|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Cat|N4546H|8749|SYNE1|protein_coding|CODING|ENST00000448038|78|G),DOWNSTREAM(MODIFIER||4442|||SYNE1|retained_intron|CODING|ENST00000471834||G),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000490135|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 79985504 Proband 82 T G . . Gene=VPS13A;MT=SNP;MM=CM;CADD=13.21;VMM=32.61;EFF=INTRON(MODIFIER||||3174|VPS13A|protein_coding|CODING|ENST00000360280|65|G),INTRON(MODIFIER||||3069|VPS13A|protein_coding|CODING|ENST00000376634|65|G),INTRON(MODIFIER||||3135|VPS13A|protein_coding|CODING|ENST00000376636|64|G),INTRON(MODIFIER||||3095|VPS13A|protein_coding|CODING|ENST00000357409|65|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 80020874 Proband 82 C A . . Gene=VPS13A;MT=SNP;MM=CM;CADD=22.3;VMM=32.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H3124N|3174|VPS13A|protein_coding|CODING|ENST00000360280|70|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H3085N|3135|VPS13A|protein_coding|CODING|ENST00000376636|69|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H60N|110|VPS13A|protein_coding|CODING|ENST00000484581|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H60N|110|VPS13A|protein_coding|CODING|ENST00000376646|4|A),UPSTREAM(MODIFIER||10||40|VPS13A|protein_coding|CODING|ENST00000467124||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 90283560 Proband 82 G T . . Gene=DAPK1;MT=SNP;MM=CM;CADD=21.6;VMM=39.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V658L|1455|DAPK1|protein_coding|CODING|ENST00000469640|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V658L|1430|DAPK1|protein_coding|CODING|ENST00000358077|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V658L|1430|DAPK1|protein_coding|CODING|ENST00000472284|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V658L|1430|DAPK1|protein_coding|CODING|ENST00000408954|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V658L|1364|DAPK1|protein_coding|CODING|ENST00000491893|18|T),UTR_3_PRIME(MODIFIER||28843||188|DAPK1|nonsense_mediated_decay|CODING|ENST00000489291|17|T),DOWNSTREAM(MODIFIER||598|||DAPK1|processed_transcript|CODING|ENST00000494010||T),EXON(MODIFIER|||||DAPK1|processed_transcript|CODING|ENST00000466188|2|T),EXON(MODIFIER|||||DAPK1|processed_transcript|CODING|ENST00000497743|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 90296357 Proband 82 C T . . Gene=DAPK1;MT=SNP;MM=CM;CADD=15.93;VMM=39.59;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P680|1455|DAPK1|protein_coding|CODING|ENST00000469640|20|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P680|1430|DAPK1|protein_coding|CODING|ENST00000358077|20|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P680|1430|DAPK1|protein_coding|CODING|ENST00000472284|20|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P680|1430|DAPK1|protein_coding|CODING|ENST00000408954|20|T),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P680|1364|DAPK1|protein_coding|CODING|ENST00000491893|19|T),UTR_3_PRIME(MODIFIER||41640||188|DAPK1|nonsense_mediated_decay|CODING|ENST00000489291|18|T),EXON(MODIFIER|||||DAPK1|processed_transcript|CODING|ENST00000497743|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 119943065 Proband 82 C T . . Gene=ASTN2;MT=SNP;MM=CM;CADD=16.53;VMM=44.51;EFF=DOWNSTREAM(MODIFIER||280|||SNORA70C|snoRNA|NON_CODING|ENST00000384538||T),INTRON(MODIFIER||||1339|ASTN2|protein_coding|CODING|ENST00000313400|3|T),INTRON(MODIFIER||||1335|ASTN2|protein_coding|CODING|ENST00000373996|3|T),INTRON(MODIFIER||||1062|ASTN2|protein_coding|CODING|ENST00000373986|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1288|ASTN2|protein_coding|CODING|ENST00000361209|3|T),INTRON(MODIFIER||||395|ASTN2|protein_coding|CODING|ENST00000361477|3|T),EXON(MODIFIER|||||RPL10P3|processed_pseudogene|NON_CODING|ENST00000431607|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 119976883 Proband 82 A T . . Gene=ASTN2;MT=SNP;MM=CM;CADD=23;VMM=44.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S257T|1339|ASTN2|protein_coding|CODING|ENST00000313400|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S257T|1335|ASTN2|protein_coding|CODING|ENST00000373996|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S257T|1288|ASTN2|protein_coding|CODING|ENST00000361209|3|T),UTR_5_PRIME(MODIFIER||562849||395|ASTN2|protein_coding|CODING|ENST00000361477|3|T),UPSTREAM(MODIFIER||51||1062|ASTN2|protein_coding|CODING|ENST00000373986||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152275523 Proband 83 G A . . Gene=FLG;MT=SNP;MM=CM;CADD=21.7;VMM=34.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R3947C|4061|FLG|protein_coding|CODING|ENST00000368799|3|A),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000593011|2|A),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000420707|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 152279108 Proband 83 G C . . Gene=FLG;MT=SNP;MM=CM;CADD=14.13;VMM=34.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Gat|H2752D|4061|FLG|protein_coding|CODING|ENST00000368799|3|C),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000593011|2|C),INTRON(MODIFIER|||||FLG-AS1|antisense|NON_CODING|ENST00000420707|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 19216538 Proband 83 C A . . Gene=EPN2;MT=SNP;MM=CM;CADD=26.8;VMM=87.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P365T|641|EPN2|protein_coding|CODING|ENST00000314728|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P308T|584|EPN2|protein_coding|CODING|ENST00000347697|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P80T|356|EPN2|protein_coding|CODING|ENST00000395618|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P308T|408|EPN2|protein_coding|CODING|ENST00000395628|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P74T|250|EPN2|protein_coding|CODING|ENST00000494192|4|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P73T|349|EPN2|protein_coding|CODING|ENST00000575595|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P308T|584|EPN2|protein_coding|CODING|ENST00000395620|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P365T|484|EPN2|protein_coding|CODING|ENST00000395626|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P301T|577|EPN2|protein_coding|CODING|ENST00000571254|4|A),UTR_3_PRIME(MODIFIER||81||36|EPN2|nonsense_mediated_decay|CODING|ENST00000580579|4|A),INTRON(MODIFIER|||||EPN2|processed_transcript|CODING|ENST00000585097|1|A),EXON(MODIFIER|||||EPN2|retained_intron|CODING|ENST00000495155|5|A),EXON(MODIFIER|||||EPN2|processed_transcript|CODING|ENST00000572627|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 19232159 Proband 83 C T . . Gene=EPN2;MT=SNP;MM=CM;CADD=24.2;VMM=87.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A428V|641|EPN2|protein_coding|CODING|ENST00000314728|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A371V|584|EPN2|protein_coding|CODING|ENST00000347697|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A143V|356|EPN2|protein_coding|CODING|ENST00000395618|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A371V|408|EPN2|protein_coding|CODING|ENST00000395628|7|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A137V|250|EPN2|protein_coding|CODING|ENST00000494192|5|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A136V|349|EPN2|protein_coding|CODING|ENST00000575595|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A371V|584|EPN2|protein_coding|CODING|ENST00000395620|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A428V|484|EPN2|protein_coding|CODING|ENST00000395626|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A364V|577|EPN2|protein_coding|CODING|ENST00000571254|5|T),UPSTREAM(MODIFIER||236|||EPN2|retained_intron|CODING|ENST00000584954||T),DOWNSTREAM(MODIFIER||84||36|EPN2|nonsense_mediated_decay|CODING|ENST00000580579||T),EXON(MODIFIER|||||EPN2|processed_transcript|CODING|ENST00000572627|4|T),EXON(MODIFIER|||||EPN2|processed_transcript|CODING|ENST00000585097|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 91625222 Proband 83 A G . . Gene=AKAP9;MT=SNP;MM=CM;CADD=14.91;VMM=43.31;EFF=UTR_3_PRIME(MODIFIER||93||314|AKAP9|protein_coding|CODING|ENST00000394564|7|G),DOWNSTREAM(MODIFIER||195||231|AKAP9|protein_coding|CODING|ENST00000438114||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||3911|AKAP9|protein_coding|CODING|ENST00000359028|8|G),INTRON(MODIFIER||||3907|AKAP9|protein_coding|CODING|ENST00000356239|7|G),INTRON(MODIFIER||||3857|AKAP9|protein_coding|CODING|ENST00000358100|8|G),INTRON(MODIFIER|||||AKAP9|retained_intron|CODING|ENST00000493453|8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 91631705 Proband 83 T C . . Gene=AKAP9;MT=SNP;MM=CM;CADD=25.2;VMM=43.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L837P|3911|AKAP9|protein_coding|CODING|ENST00000359028|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L825P|3907|AKAP9|protein_coding|CODING|ENST00000356239|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L837P|3857|AKAP9|protein_coding|CODING|ENST00000358100|9|C),EXON(MODIFIER|||||AKAP9|retained_intron|CODING|ENST00000493453|9|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 65291768 Proband 84 A T . . Gene=MIR124-2;MT=SNP;MM=DN;CADD=15.78;VMM=0;EFF=DOWNSTREAM(MODIFIER||380|||LINC00966|lincRNA|NON_CODING|ENST00000520799||T),DOWNSTREAM(MODIFIER||776|||LINC00966|lincRNA|NON_CODING|ENST00000524060||T),DOWNSTREAM(MODIFIER||733|||LINC00966|lincRNA|NON_CODING|ENST00000524284||T),INTRON(MODIFIER|||||LINC00966|lincRNA|NON_CODING|ENST00000521441|2|T),INTRON(MODIFIER|||||LINC00966|lincRNA|NON_CODING|ENST00000519741|1|T),EXON(MODIFIER|||||MIR124-2|miRNA|NON_CODING|ENST00000385081|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 65291803 Proband 84 G T . . Gene=MIR124-2;MT=SNP;MM=DN;CADD=15.4;VMM=0;EFF=DOWNSTREAM(MODIFIER||415|||LINC00966|lincRNA|NON_CODING|ENST00000520799||T),DOWNSTREAM(MODIFIER||811|||LINC00966|lincRNA|NON_CODING|ENST00000524060||T),DOWNSTREAM(MODIFIER||768|||LINC00966|lincRNA|NON_CODING|ENST00000524284||T),INTRON(MODIFIER|||||LINC00966|lincRNA|NON_CODING|ENST00000521441|2|T),INTRON(MODIFIER|||||LINC00966|lincRNA|NON_CODING|ENST00000519741|1|T),EXON(MODIFIER|||||MIR124-2|miRNA|NON_CODING|ENST00000385081|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 31323161 Proband 85 C T . . Gene=ASXL3;MT=SNP;MM=DN;CADD=37;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1117*|2248|ASXL3|protein_coding|CODING|ENST00000269197|12|T),UTR_3_PRIME(MODIFIER||52881||318|ASXL3|nonsense_mediated_decay|CODING|ENST00000592288|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170912160 Proband 85 T C . . Gene=UBR3;MT=SNP;MM=DN;CADD=15.53;VMM=0;EFF=INTRON(MODIFIER||||1888|UBR3|protein_coding|CODING|ENST00000272793|33|C),INTRON(MODIFIER||||1888|UBR3|protein_coding|CODING|ENST00000418381|33|C),INTRON(MODIFIER||||383|UBR3|nonsense_mediated_decay|CODING|ENST00000430321|17|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||949|UBR3|protein_coding|CODING|ENST00000392632|13|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||709|UBR3|protein_coding|CODING|ENST00000392631|10|C),INTRON(MODIFIER||||588|UBR3|protein_coding|CODING|ENST00000439681|8|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||77|UBR3|nonsense_mediated_decay|CODING|ENST00000444475|6|C),INTRON(MODIFIER|||||UBR3|retained_intron|CODING|ENST00000474426|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 53974853 Proband 85 C T . . Gene=GLIS1;MT=SNP;MM=CM;CADD=13.66;VMM=38.08;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G549S|620|GLIS1|protein_coding|CODING|ENST00000312233|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 54060131 Proband 85 G A . . Gene=GLIS1;MT=SNP;MM=CM;CADD=24.8;VMM=38.08;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|P149S|620|GLIS1|protein_coding|CODING|ENST00000312233|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 92737097 Proband 85 GCTAA G . . Gene=GLMN;MT=INDEL;MM=CM;CADD=33;VMM=114.39;EFF=FRAME_SHIFT(HIGH||ttagca/|LA282|594|GLMN|protein_coding|CODING|ENST00000370360|8|G),FRAME_SHIFT(HIGH||ttagca/|LA282|580|GLMN|protein_coding|CODING|ENST00000534881|8|G),FRAME_SHIFT(HIGH||ttagca/|LA282|417|GLMN|nonsense_mediated_decay|CODING|ENST00000495106|8|G),FRAME_SHIFT(HIGH||ttagca/|LA38|297|GLMN|protein_coding|CODING|ENST00000495852|2|G|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||ttagca/|LA71|243|GLMN|protein_coding|CODING|ENST00000463560|2|G|WARNING_TRANSCRIPT_INCOMPLETE),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||594|GLMN|protein_coding|CODING||8|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||594|GLMN|protein_coding|CODING||8|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||417|GLMN|nonsense_mediated_decay|CODING||8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 92762982 Proband 85 A C . . Gene=GLMN;MT=SNP;MM=CM;CADD=24.1;VMM=114.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atT/atG|I48M|594|GLMN|protein_coding|CODING|ENST00000370360|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atT/atG|I48M|580|GLMN|protein_coding|CODING|ENST00000534881|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atT/atG|I48M|417|GLMN|nonsense_mediated_decay|CODING|ENST00000495106|3|C),UPSTREAM(MODIFIER||1540||612|RPAP2|protein_coding|CODING|ENST00000610020||C),UPSTREAM(MODIFIER||1660|||RPAP2|processed_transcript|CODING|ENST00000484158||C),DOWNSTREAM(MODIFIER||96|||GLMN|retained_intron|CODING|ENST00000487911||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 64136628 Proband 85 G T . . Gene=ZNF365;MT=SNP;MM=CM;CADD=26.9;VMM=39.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V226L|462|ZNF365|protein_coding|CODING|ENST00000410046|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V226L|407|ZNF365|protein_coding|CODING|ENST00000395254|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V226L|333|ZNF365|protein_coding|CODING|ENST00000395255|2|T),DOWNSTREAM(MODIFIER||517||52|ZNF365|protein_coding|CODING|ENST00000421210||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||ZNF365|processed_transcript|CODING|ENST00000466727|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 64160854 Proband 85 T G . . Gene=ZNF365;MT=SNP;MM=CM;CADD=13.07;VMM=39.26;EFF=UTR_3_PRIME(MODIFIER||1306||407|ZNF365|protein_coding|CODING|ENST00000395254|5|G),INTRON(MODIFIER||||462|ZNF365|protein_coding|CODING|ENST00000410046|3|G),INTRON(MODIFIER||||333|ZNF365|protein_coding|CODING|ENST00000395255|3|G),EXON(MODIFIER|||||ZNF365|processed_transcript|CODING|ENST00000466727|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50944294 Proband 85 C T . . Gene=MYBPC2;MT=SNP;MM=CM;CADD=27.2;VMM=44.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R244W|1141|MYBPC2|protein_coding|CODING|ENST00000357701|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 50957396 Proband 85 C T . . Gene=MYBPC2;MT=SNP;MM=CM;CADD=14.31;VMM=44.69;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P623|1141|MYBPC2|protein_coding|CODING|ENST00000357701|17|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 110483142 Proband 85 G C . . Gene=PKHD1L1;MT=SNP;MM=CM;CADD=14.3;VMM=30.68;EFF=INTRON(MODIFIER||||4243|PKHD1L1|protein_coding|CODING|ENST00000378402|50|C),EXON(MODIFIER|||||RP11-419L20.2|processed_pseudogene|NON_CODING|ENST00000518703|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 110483861 Proband 85 T C . . Gene=PKHD1L1;MT=SNP;MM=CM;CADD=19.28;VMM=30.68;EFF=DOWNSTREAM(MODIFIER||515|||RP11-419L20.2|processed_pseudogene|NON_CODING|ENST00000518703||C),INTRON(MODIFIER||||4243|PKHD1L1|protein_coding|CODING|ENST00000378402|50|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 151110191 Proband 86 C G . . Gene=SEMA6C;MT=SNP;MM=DN;CADD=26.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G251A|962|SEMA6C|protein_coding|CODING|ENST00000368913|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G211A|922|SEMA6C|protein_coding|CODING|ENST00000368912|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G251A|930|SEMA6C|protein_coding|CODING|ENST00000368914|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G251A|930|SEMA6C|protein_coding|CODING|ENST00000341697|10|G),UPSTREAM(MODIFIER||4847|||SEMA6C|processed_transcript|CODING|ENST00000479820||G),UPSTREAM(MODIFIER||2449|||SEMA6C|processed_transcript|CODING|ENST00000464018||G),UPSTREAM(MODIFIER||2840|||SEMA6C|processed_transcript|CODING|ENST00000489944||G),EXON(MODIFIER|||||SEMA6C|processed_transcript|CODING|ENST00000485745|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 73067394 Proband 86 G T . . Gene=ARHGEF17;MT=SNP;MM=DN;CADD=23.7;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gat/Tat|D1280Y|2063|ARHGEF17|protein_coding|CODING|ENST00000263674|6|T),UPSTREAM(MODIFIER||786|||AP002761.1|miRNA|NON_CODING|ENST00000582555||T),UPSTREAM(MODIFIER||128|||ARHGEF17|retained_intron|CODING|ENST00000537198||T),DOWNSTREAM(MODIFIER||3087|||ARHGEF17|processed_transcript|CODING|ENST00000536170||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 62499025 Proband 86 CAG C . . Gene=DDX5;MT=INDEL;MM=DN;CADD=19.73;VMM=0;EFF=NEXT_PROT[domain:Helicase_C-terminal](LOW||||614|DDX5|protein_coding|CODING||8|C),NEXT_PROT[domain:Helicase_C-terminal](LOW||||535|DDX5|protein_coding|CODING||7|C),UTR_3_PRIME(MODIFIER||13||166|DDX5|protein_coding|CODING|ENST00000577787|4|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2069|||MIR3064|miRNA|NON_CODING|ENST00000581130||C),UPSTREAM(MODIFIER||1595|||MIR5047|miRNA|NON_CODING|ENST00000579212||C),UPSTREAM(MODIFIER||3680||821|CEP95|protein_coding|CODING|ENST00000556440||C),UPSTREAM(MODIFIER||1006|||DDX5|processed_transcript|CODING|ENST00000580026||C),UPSTREAM(MODIFIER||558|||DDX5|retained_intron|CODING|ENST00000578758||C),UPSTREAM(MODIFIER||1211|||DDX5|processed_transcript|CODING|ENST00000581237||C),UPSTREAM(MODIFIER||6|||DDX5|retained_intron|CODING|ENST00000585317||C),UPSTREAM(MODIFIER||3957||157|CEP95|nonsense_mediated_decay|CODING|ENST00000579860||C),UPSTREAM(MODIFIER||4067||55|CEP95|protein_coding|CODING|ENST00000580188||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4103||156|CEP95|protein_coding|CODING|ENST00000581056||C),UPSTREAM(MODIFIER||4127||657|CEP95|protein_coding|CODING|ENST00000553412||C),UPSTREAM(MODIFIER||4177||99|CEP95|nonsense_mediated_decay|CODING|ENST00000553956||C),DOWNSTREAM(MODIFIER||13|||DDX5|retained_intron|CODING|ENST00000583201||C),DOWNSTREAM(MODIFIER||22|||DDX5|retained_intron|CODING|ENST00000582326||C),DOWNSTREAM(MODIFIER||57|||DDX5|retained_intron|CODING|ENST00000583894||C),DOWNSTREAM(MODIFIER||187||99|DDX5|nonsense_mediated_decay|CODING|ENST00000578400||C),DOWNSTREAM(MODIFIER||533||211|DDX5|protein_coding|CODING|ENST00000577922||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||660||64|DDX5|protein_coding|CODING|ENST00000581697||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||812|||DDX5|retained_intron|CODING|ENST00000583562||C),DOWNSTREAM(MODIFIER||931||51|DDX5|protein_coding|CODING|ENST00000581806||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||948||45|DDX5|protein_coding|CODING|ENST00000578190||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1087||37|DDX5|protein_coding|CODING|ENST00000583239||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1107||30|DDX5|protein_coding|CODING|ENST00000579091||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1152||15|DDX5|protein_coding|CODING|ENST00000585060||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1156||119|DDX5|protein_coding|CODING|ENST00000584279||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1170||9|DDX5|protein_coding|CODING|ENST00000583212||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1450|||DDX5|retained_intron|CODING|ENST00000585223||C),DOWNSTREAM(MODIFIER||1847||43|DDX5|protein_coding|CODING|ENST00000585111||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3892|||DDX5|processed_transcript|CODING|ENST00000583699||C),DOWNSTREAM(MODIFIER||4019|||DDX5|processed_transcript|CODING|ENST00000584500||C),INTRON(MODIFIER||||614|DDX5|protein_coding|CODING|ENST00000225792|8|C),INTRON(MODIFIER||||96|DDX5|nonsense_mediated_decay|CODING|ENST00000540698|7|C),INTRON(MODIFIER|||||DDX5|retained_intron|CODING|ENST00000581230|8|C),INTRON(MODIFIER||||38|DDX5|nonsense_mediated_decay|CODING|ENST00000581693|7|C),INTRON(MODIFIER||||535|DDX5|protein_coding|CODING|ENST00000450599|7|C),INTRON(MODIFIER||||614|DDX5|protein_coding|CODING|ENST00000578804|8|C),INTRON(MODIFIER|||||DDX5|processed_transcript|CODING|ENST00000578491|1|C),INTRON(MODIFIER|||||DDX5|retained_intron|CODING|ENST00000579461|2|C),INTRON(MODIFIER||||152|DDX5|protein_coding|CODING|ENST00000579996|3|C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||DDX5|retained_intron|CODING|ENST00000584549|3|C),EXON(MODIFIER|||||DDX5|retained_intron|CODING|ENST00000581551|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 130301878 Proband 86 G A . . Gene=COPG2;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L128F|246|COPG2|protein_coding|CODING|ENST00000445977|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L128F|244|COPG2|protein_coding|CODING|ENST00000330992|6|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 5689969 Proband 86 G T . . Gene=KIAA1432;MT=SNP;MM=DN;CADD=27.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G88V|1423|KIAA1432|protein_coding|CODING|ENST00000414202|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G88V|1165|KIAA1432|protein_coding|CODING|ENST00000251879|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G9V|1086|KIAA1432|protein_coding|CODING|ENST00000381532|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G9V|1344|KIAA1432|protein_coding|CODING|ENST00000418622|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G9V|1307|KIAA1432|protein_coding|CODING|ENST00000449720|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G16V|1314|KIAA1432|protein_coding|CODING|ENST00000545641|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 26648530 Proband 86 G A . . Gene=AIM1L;MT=SNP;MM=CM;CADD=35;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R765W|787|AIM1L|protein_coding|CODING|ENST00000527815|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R594W|616|AIM1L|protein_coding|CODING|ENST00000308182|19|A),UPSTREAM(MODIFIER||4649|||RP11-569G9.7|processed_pseudogene|NON_CODING|ENST00000434718||A),UPSTREAM(MODIFIER||3774||487|UBXN11|protein_coding|CODING|ENST00000374217||A),UPSTREAM(MODIFIER||3676||520|UBXN11|protein_coding|CODING|ENST00000374222||A),DOWNSTREAM(MODIFIER||1516||61|CD52|protein_coding|CODING|ENST00000374213||A),DOWNSTREAM(MODIFIER||3045|||CD52|processed_transcript|CODING|ENST00000492808||A),DOWNSTREAM(MODIFIER||1715|||CD52|processed_transcript|CODING|ENST00000470468||A),EXON(MODIFIER|||||AIM1L|processed_transcript|CODING|ENST00000374211|4|A),EXON(MODIFIER|||||AIM1L|processed_transcript|CODING|ENST00000374208|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 26654788 Proband 86 C A . . Gene=AIM1L;MT=SNP;MM=CM;CADD=34;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R623L|787|AIM1L|protein_coding|CODING|ENST00000527815|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R452L|616|AIM1L|protein_coding|CODING|ENST00000308182|16|A),UPSTREAM(MODIFIER||3316|||AIM1L|processed_transcript|CODING|ENST00000374211||A),UPSTREAM(MODIFIER||3177|||AIM1L|processed_transcript|CODING|ENST00000374208||A),DOWNSTREAM(MODIFIER||1264|||RP11-569G9.7|processed_pseudogene|NON_CODING|ENST00000434718||A),DOWNSTREAM(MODIFIER||312|||AIM1L|retained_intron|CODING|ENST00000520372||A),DOWNSTREAM(MODIFIER||3288|||AIM1L|processed_transcript|CODING|ENST00000522923||A),DOWNSTREAM(MODIFIER||3297||294|AIM1L|protein_coding|CODING|ENST00000429942||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 173782684 Proband 86 A C . . Gene=RAPGEF4;MT=SNP;MM=CM;CADD=13.28;VMM=35.17;EFF=DOWNSTREAM(MODIFIER||119|||RAPGEF4|processed_transcript|CODING|ENST00000484331||C),INTRON(MODIFIER||||1011|RAPGEF4|protein_coding|CODING|ENST00000397081|5|C),INTRON(MODIFIER||||1010|RAPGEF4|protein_coding|CODING|ENST00000264111|5|C),INTRON(MODIFIER||||943|RAPGEF4|protein_coding|CODING|ENST00000409036|5|C),INTRON(MODIFIER||||867|RAPGEF4|protein_coding|CODING|ENST00000397087|2|C),INTRON(MODIFIER|||||RAPGEF4|processed_transcript|CODING|ENST00000473003|2|C),INTRON(MODIFIER||||840|RAPGEF4|protein_coding|CODING|ENST00000538974|2|C),INTRON(MODIFIER||||858|RAPGEF4|protein_coding|CODING|ENST00000540783|2|C),INTRON(MODIFIER||||858|RAPGEF4|protein_coding|CODING|ENST00000539331|2|C),INTRON(MODIFIER|||||RAPGEF4|processed_transcript|CODING|ENST00000473043|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 173894950 Proband 86 G A . . Gene=RAPGEF4;MT=SNP;MM=CM;CADD=23.8;VMM=35.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V873I|1011|RAPGEF4|protein_coding|CODING|ENST00000397081|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V872I|1010|RAPGEF4|protein_coding|CODING|ENST00000264111|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V873I|943|RAPGEF4|protein_coding|CODING|ENST00000409036|26|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V729I|867|RAPGEF4|protein_coding|CODING|ENST00000397087|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V702I|840|RAPGEF4|protein_coding|CODING|ENST00000538974|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V720I|858|RAPGEF4|protein_coding|CODING|ENST00000540783|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V720I|858|RAPGEF4|protein_coding|CODING|ENST00000539331|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V653I|791|RAPGEF4|protein_coding|CODING|ENST00000535187|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V104I|187|RAPGEF4|protein_coding|CODING|ENST00000397085|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 31019433 Proband 86 C T . . Gene=ASXL1;MT=SNP;MM=CM;CADD=12.65;VMM=32.82;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N310|1541|ASXL1|protein_coding|CODING|ENST00000375687|10|T),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N305|1536|ASXL1|protein_coding|CODING|ENST00000306058|9|T),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|N82|175|ASXL1|protein_coding|CODING|ENST00000553345|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3207||84|ASXL1|protein_coding|CODING|ENST00000542461||T),DOWNSTREAM(MODIFIER||1710|||ASXL1|processed_transcript|CODING|ENST00000470145||T),EXON(MODIFIER|||||ASXL1|retained_intron|CODING|ENST00000555564|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 31022910 Proband 86 G T . . Gene=ASXL1;MT=SNP;MM=CM;CADD=23.6;VMM=32.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D799Y|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D794Y|1536|ASXL1|protein_coding|CODING|ENST00000306058|12|T),DOWNSTREAM(MODIFIER||1697||175|ASXL1|protein_coding|CODING|ENST00000553345||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2135|||ASXL1|retained_intron|CODING|ENST00000555564||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 32492593 Proband 86 C A . . Gene=TIAM1;MT=SNP;MM=CM;CADD=12.19;VMM=31.21;EFF=UTR_3_PRIME(MODIFIER||93||1591|TIAM1|protein_coding|CODING|ENST00000286827|29|A),DOWNSTREAM(MODIFIER||82||1531|TIAM1|protein_coding|CODING|ENST00000541036||A),DOWNSTREAM(MODIFIER||3664|||TIAM1|retained_intron|CODING|ENST00000491927||A),INTRON(MODIFIER||||131|TIAM1|protein_coding|CODING|ENST00000423206|3|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 32638956 Proband 86 G T . . Gene=TIAM1;MT=SNP;MM=CM;CADD=23.5;VMM=31.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S111R|1591|TIAM1|protein_coding|CODING|ENST00000286827|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S111R|1531|TIAM1|protein_coding|CODING|ENST00000541036|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S111R|224|TIAM1|protein_coding|CODING|ENST00000455508|4|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||TIAM1|processed_transcript|CODING|ENST00000469412|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 139101018 Proband 86 C G . . Gene=CCDC28A;MT=SNP;MM=CM;CADD=28.8;VMM=44.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P163R|274|CCDC28A|protein_coding|CODING|ENST00000332797|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 139114044 Proband 86 G T . . Gene=CCDC28A;MT=SNP;MM=CM;CADD=13.55;VMM=44.28;EFF=UTR_3_PRIME(MODIFIER||104||274|CCDC28A|protein_coding|CODING|ENST00000332797|6|T),UPSTREAM(MODIFIER||3019||904|ECT2L|protein_coding|CODING|ENST00000423192||T),UPSTREAM(MODIFIER||3213||76|ECT2L|protein_coding|CODING|ENST00000401414||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152686118 Proband 86 T C . . Gene=SYNE1;MT=SNP;MM=CM;CADD=16.49;VMM=45.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3337V|8797|SYNE1|protein_coding|CODING|ENST00000265368|63|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3337V|8797|SYNE1|protein_coding|CODING|ENST00000367255|63|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3344V|8749|SYNE1|protein_coding|CODING|ENST00000423061|63|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3376V|8409|SYNE1|protein_coding|CODING|ENST00000341594|66|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M3344V|8749|SYNE1|protein_coding|CODING|ENST00000448038|64|C),DOWNSTREAM(MODIFIER||2009||510|SYNE1|protein_coding|CODING|ENST00000454018||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2014||206|SYNE1|protein_coding|CODING|ENST00000469439||C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000471834|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152688435 Proband 86 G A . . Gene=SYNE1;MT=SNP;MM=CM;CADD=23.5;VMM=45.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3297M|8797|SYNE1|protein_coding|CODING|ENST00000265368|62|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3297M|8797|SYNE1|protein_coding|CODING|ENST00000367255|62|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3304M|8749|SYNE1|protein_coding|CODING|ENST00000423061|62|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3336M|8409|SYNE1|protein_coding|CODING|ENST00000341594|65|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3304M|8749|SYNE1|protein_coding|CODING|ENST00000448038|63|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T413M|510|SYNE1|protein_coding|CODING|ENST00000454018|8|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T109M|206|SYNE1|protein_coding|CODING|ENST00000469439|3|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000471834|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 6661877 Proband 86 G A . . Gene=ZNF853;MT=SNP;MM=CM;CADD=23;VMM=35.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A419T|659|ZNF853|protein_coding|CODING|ENST00000457543|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 6663829 Proband 86 G A . . Gene=ZNF853;MT=SNP;MM=CM;CADD=13.65;VMM=35.09;EFF=UTR_3_PRIME(MODIFIER||1227||659|ZNF853|protein_coding|CODING|ENST00000457543|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 1116019 Proband 87 C T . . Gene=SBNO2;MT=SNP;MM=HM;CADD=23.5;VMM=0;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||1366|SBNO2|protein_coding|CODING|ENST00000361757|17|T),SPLICE_SITE_DONOR+INTRON(HIGH||||1356|SBNO2|protein_coding|CODING|ENST00000587024|17|T),SPLICE_SITE_DONOR+INTRON(HIGH||||1309|SBNO2|protein_coding|CODING|ENST00000438103|14|T),UPSTREAM(MODIFIER||4342|||SBNO2|retained_intron|CODING|ENST00000587673||T),UPSTREAM(MODIFIER||4958|||SBNO2|retained_intron|CODING|ENST00000586109||T),DOWNSTREAM(MODIFIER||1376|||SBNO2|retained_intron|CODING|ENST00000590446||T),EXON(MODIFIER|||||SBNO2|retained_intron|CODING|ENST00000592222|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 57287602 Proband 87 G A . . Gene=NPEPL1;MT=SNP;MM=DN;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R323K|523|NPEPL1|protein_coding|CODING|ENST00000356091|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R295K|495|NPEPL1|protein_coding|CODING|ENST00000525967|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R275K|475|NPEPL1|protein_coding|CODING|ENST00000525817|9|A),UTR_3_PRIME(MODIFIER||21060||382|STX16-NPEPL1|nonsense_mediated_decay|CODING|ENST00000530122|19|A),UTR_3_PRIME(MODIFIER||6995||179|NPEPL1|nonsense_mediated_decay|CODING|ENST00000533788|7|A),UPSTREAM(MODIFIER||275|||NPEPL1|retained_intron|CODING|ENST00000527081||A),UPSTREAM(MODIFIER||1185|||NPEPL1|retained_intron|CODING|ENST00000525068||A),UPSTREAM(MODIFIER||4818|||NPEPL1|retained_intron|CODING|ENST00000532531||A),DOWNSTREAM(MODIFIER||913|||RP11-261P9.4|sense_intronic|NON_CODING|ENST00000530479||A),EXON(MODIFIER|||||NPEPL1|retained_intron|CODING|ENST00000529976|7|A),EXON(MODIFIER|||||NPEPL1|retained_intron|CODING|ENST00000527587|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 112319991 Proband 87 C T . . Gene=KCND3;MT=SNP;MM=CM;CADD=16.61;VMM=51.1;EFF=INTRON(MODIFIER||||655|KCND3|protein_coding|CODING|ENST00000315987|6|T),INTRON(MODIFIER||||636|KCND3|protein_coding|CODING|ENST00000369697|4|T),INTRON(MODIFIER||||636|KCND3|protein_coding|CODING|ENST00000302127|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 112525043 Proband 87 C G . . Gene=KCND3;MT=SNP;MM=CM;CADD=25.8;VMM=51.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K102N|655|KCND3|protein_coding|CODING|ENST00000315987|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K102N|636|KCND3|protein_coding|CODING|ENST00000369697|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K102N|636|KCND3|protein_coding|CODING|ENST00000302127|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 47858494 Proband 87 C T . . Gene=DHX34;MT=SNP;MM=CM;CADD=34;VMM=101.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R302W|1143|DHX34|protein_coding|CODING|ENST00000328771|3|T),UPSTREAM(MODIFIER||2777|||DHX34|processed_transcript|CODING|ENST00000471451||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 47883105 Proband 87 C T . . Gene=DHX34;MT=SNP;MM=CM;CADD=21.5;VMM=101.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R949C|1143|DHX34|protein_coding|CODING|ENST00000328771|14|T),UTR_3_PRIME(MODIFIER||2881||271|DHX34|nonsense_mediated_decay|CODING|ENST00000460681|8|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||DHX34|retained_intron|CODING|ENST00000486327|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52416395 Proband 87 G A . . Gene=DNAH1;MT=SNP;MM=CM;CADD=28.6;VMM=82.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R2622Q|4265|DNAH1|protein_coding|CODING|ENST00000420323|50|A),UPSTREAM(MODIFIER||2495|||DNAH1|retained_intron|CODING|ENST00000488988||A),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|50|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52420315 Proband 87 C T . . Gene=DNAH1;MT=SNP;MM=CM;CADD=21.7;VMM=82.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2922V|4265|DNAH1|protein_coding|CODING|ENST00000420323|55|T),UPSTREAM(MODIFIER||2248||928|DNAH1|nonsense_mediated_decay|CODING|ENST00000490713||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2584||191|DNAH1|protein_coding|CODING|ENST00000480649||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|55|T),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000488988|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152668215 Proband 87 C T . . Gene=SYNE1;MT=SNP;MM=CM;CADD=16.75;VMM=66.3;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A4019|8797|SYNE1|protein_coding|CODING|ENST00000265368|73|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A4019|8797|SYNE1|protein_coding|CODING|ENST00000367255|73|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3948|8749|SYNE1|protein_coding|CODING|ENST00000423061|72|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A3948|8749|SYNE1|protein_coding|CODING|ENST00000448038|73|T),INTRON(MODIFIER||||8409|SYNE1|protein_coding|CODING|ENST00000341594|75|T),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000471834|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152804240 Proband 87 G A . . Gene=SYNE1;MT=SNP;MM=CM;CADD=32;VMM=66.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|8797|SYNE1|protein_coding|CODING|ENST00000265368|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|8797|SYNE1|protein_coding|CODING|ENST00000367255|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R451W|8749|SYNE1|protein_coding|CODING|ENST00000423061|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|8409|SYNE1|protein_coding|CODING|ENST00000341594|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R451W|8749|SYNE1|protein_coding|CODING|ENST00000448038|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|1725|SYNE1|protein_coding|CODING|ENST00000367253|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R434W|1433|SYNE1|protein_coding|CODING|ENST00000367248|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|1443|SYNE1|protein_coding|CODING|ENST00000413186|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R444W|754|SYNE1|protein_coding|CODING|ENST00000466159|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R427W|614|SYNE1|protein_coding|CODING|ENST00000537750|13|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000461872|12|A),EXON(MODIFIER|||||SYNE1|processed_transcript|CODING|ENST00000535896|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6692078 Proband 88 C T . . Gene=AK096395,CHD4;MT=SNP;MM=DN;CADD=24;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G1419D|1940|CHD4|protein_coding|CODING|ENST00000309577|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G1416D|1937|CHD4|protein_coding|CODING|ENST00000544484|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G1391D|1912|CHD4|protein_coding|CODING|ENST00000357008|28|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G1384D|1905|CHD4|protein_coding|CODING|ENST00000544040|28|T),UPSTREAM(MODIFIER||1303|||SCARNA11|snoRNA|NON_CODING|ENST00000516089||T),UPSTREAM(MODIFIER||1742|||CHD4|processed_transcript|CODING|ENST00000542717||T),INTRON(MODIFIER|||||CHD4|processed_transcript|CODING|ENST00000536301|1|T),EXON(MODIFIER|||||RP5-940J5.6|antisense|NON_CODING|ENST00000501075|2|T),EXON(MODIFIER|||||CHD4|processed_transcript|CODING|ENST00000540960|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 83170724 Proband 88 G A . . Gene=DLG2;MT=SNP;MM=CM;CADD=22.3;VMM=33.67;EFF=UTR_3_PRIME(MODIFIER||137||975|DLG2|protein_coding|CODING|ENST00000376104|28|A),UTR_3_PRIME(MODIFIER||137||870|DLG2|protein_coding|CODING|ENST00000398309|23|A),UTR_3_PRIME(MODIFIER||137||334|DLG2|protein_coding|CODING|ENST00000426717|11|A),UTR_3_PRIME(MODIFIER||137||749|DLG2|protein_coding|CODING|ENST00000418306|20|A),UTR_3_PRIME(MODIFIER||137||909|DLG2|protein_coding|CODING|ENST00000280241|22|A),UTR_3_PRIME(MODIFIER||137||975|DLG2|protein_coding|CODING|ENST00000543673|26|A),UTR_3_PRIME(MODIFIER||137||348|DLG2|protein_coding|CODING|ENST00000404783|12|A),UTR_3_PRIME(MODIFIER||137||791|DLG2|protein_coding|CODING|ENST00000330014|22|A),UTR_3_PRIME(MODIFIER||137||334|DLG2|protein_coding|CODING|ENST00000376106|22|A),UTR_3_PRIME(MODIFIER||137||620|DLG2|protein_coding|CODING|ENST00000537455|23|A),UTR_3_PRIME(MODIFIER||137||866|DLG2|protein_coding|CODING|ENST00000524982|24|A),UPSTREAM(MODIFIER||2468|||AP003026.1|pseudogene|NON_CODING|ENST00000420284||A),DOWNSTREAM(MODIFIER||108||852|DLG2|protein_coding|CODING|ENST00000532653||A),DOWNSTREAM(MODIFIER||1861||811|DLG2|protein_coding|CODING|ENST00000531015||A),DOWNSTREAM(MODIFIER||2387||164|DLG2|protein_coding|CODING|ENST00000457267||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DLG2|retained_intron|CODING|ENST00000529159|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 83194086 Proband 88 A G . . Gene=DLG2;MT=SNP;MM=CM;CADD=13.56;VMM=33.67;EFF=DOWNSTREAM(MODIFIER||3112||142|DLG2|protein_coding|CODING|ENST00000530800||G),INTRON(MODIFIER||||975|DLG2|protein_coding|CODING|ENST00000376104|22|G),INTRON(MODIFIER||||870|DLG2|protein_coding|CODING|ENST00000398309|17|G),INTRON(MODIFIER||||334|DLG2|protein_coding|CODING|ENST00000426717|5|G),INTRON(MODIFIER||||749|DLG2|protein_coding|CODING|ENST00000418306|14|G),INTRON(MODIFIER||||909|DLG2|protein_coding|CODING|ENST00000280241|16|G),INTRON(MODIFIER||||975|DLG2|protein_coding|CODING|ENST00000543673|20|G),INTRON(MODIFIER||||348|DLG2|protein_coding|CODING|ENST00000404783|5|G),INTRON(MODIFIER||||791|DLG2|protein_coding|CODING|ENST00000330014|16|G),INTRON(MODIFIER||||334|DLG2|protein_coding|CODING|ENST00000376106|16|G),INTRON(MODIFIER||||620|DLG2|protein_coding|CODING|ENST00000537455|16|G),INTRON(MODIFIER||||866|DLG2|protein_coding|CODING|ENST00000524982|17|G),INTRON(MODIFIER||||852|DLG2|protein_coding|CODING|ENST00000532653|17|G),INTRON(MODIFIER||||811|DLG2|protein_coding|CODING|ENST00000531015|16|G),INTRON(MODIFIER||||164|DLG2|protein_coding|CODING|ENST00000457267|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||220|DLG2|protein_coding|CODING|ENST00000420775|5|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||108|DLG2|protein_coding|CODING|ENST00000524601|4|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||129|DLG2|protein_coding|CODING|ENST00000398304|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 66765616 Proband 88 C T . . Gene=GRIP1;MT=SNP;MM=CM;CADD=28.9;VMM=42.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R957H|1128|GRIP1|protein_coding|CODING|ENST00000359742|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R905H|1076|GRIP1|protein_coding|CODING|ENST00000398016|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R942H|1113|GRIP1|protein_coding|CODING|ENST00000286445|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R756H|927|GRIP1|protein_coding|CODING|ENST00000538164|17|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R890H|1055|GRIP1|protein_coding|CODING|ENST00000538211|21|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R849H|875|GRIP1|protein_coding|CODING|ENST00000540433|21|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R782H|786|GRIP1|protein_coding|CODING|ENST00000536215|19|T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||28|||GRIP1|retained_intron|CODING|ENST00000541299||T),INTRON(MODIFIER||||121|GRIP1|protein_coding|CODING|ENST00000540854|4|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||GRIP1|retained_intron|CODING|ENST00000535323|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 66935660 Proband 88 C T . . Gene=GRIP1;MT=SNP;MM=CM;CADD=13.15;VMM=42.72;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S69|1128|GRIP1|protein_coding|CODING|ENST00000359742|3|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S69|1076|GRIP1|protein_coding|CODING|ENST00000398016|3|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S69|1113|GRIP1|protein_coding|CODING|ENST00000286445|3|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S69|1055|GRIP1|protein_coding|CODING|ENST00000538211|3|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S13|875|GRIP1|protein_coding|CODING|ENST00000540433|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S13|786|GRIP1|protein_coding|CODING|ENST00000536215|2|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S42|209|GRIP1|protein_coding|CODING|ENST00000545666|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S13|148|GRIP1|protein_coding|CODING|ENST00000542309|3|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S13|119|GRIP1|protein_coding|CODING|ENST00000539540|3|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S95|187|GRIP1|protein_coding|CODING|ENST00000541947|3|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S13|14|GRIP1|protein_coding|CODING|ENST00000538373|5|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2772||121|GRIP1|protein_coding|CODING|ENST00000540854||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 42599171 Proband 88 C T . . Gene=SEC22C;MT=SNP;MM=CM;CADD=23.3;VMM=38.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|303|SEC22C|protein_coding|CODING|ENST00000264454|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E103K|224|SEC22C|protein_coding|CODING|ENST00000451653|3|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|228|SEC22C|protein_coding|CODING|ENST00000423701|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|250|SEC22C|protein_coding|CODING|ENST00000273156|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|250|SEC22C|protein_coding|CODING|ENST00000417572|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E112K|180|SEC22C|protein_coding|CODING|ENST00000536332|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|235|SEC22C|protein_coding|CODING|ENST00000456515|5|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||5874||143|SEC22C|nonsense_mediated_decay|CODING|ENST00000449617|6|T),DOWNSTREAM(MODIFIER||3436|||SEC22C|processed_transcript|CODING|ENST00000493107||T),DOWNSTREAM(MODIFIER||3438||72|SEC22C|nonsense_mediated_decay|CODING|ENST00000383750||T),DOWNSTREAM(MODIFIER||3536||141|SEC22C|protein_coding|CODING|ENST00000450981||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 42604891 Proband 88 C T . . Gene=SEC22C;MT=SNP;MM=CM;CADD=14.49;VMM=38.32;EFF=DOWNSTREAM(MODIFIER||125||72|SEC22C|nonsense_mediated_decay|CODING|ENST00000445388||T),DOWNSTREAM(MODIFIER||146||61|SEC22C|nonsense_mediated_decay|CODING|ENST00000454141||T),DOWNSTREAM(MODIFIER||148||106|SEC22C|protein_coding|CODING|ENST00000416880||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||210|||SEC22C|retained_intron|CODING|ENST00000487701||T),DOWNSTREAM(MODIFIER||446||74|SEC22C|protein_coding|CODING|ENST00000420163||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||528|||SEC22C|processed_transcript|CODING|ENST00000456222||T),INTRON(MODIFIER||||303|SEC22C|protein_coding|CODING|ENST00000264454|3|T),INTRON(MODIFIER||||224|SEC22C|protein_coding|CODING|ENST00000451653|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||228|SEC22C|protein_coding|CODING|ENST00000423701|3|T),INTRON(MODIFIER||||250|SEC22C|protein_coding|CODING|ENST00000273156|3|T),INTRON(MODIFIER||||250|SEC22C|protein_coding|CODING|ENST00000417572|3|T),INTRON(MODIFIER||||143|SEC22C|nonsense_mediated_decay|CODING|ENST00000449617|4|T),INTRON(MODIFIER||||180|SEC22C|protein_coding|CODING|ENST00000536332|4|T),INTRON(MODIFIER||||235|SEC22C|protein_coding|CODING|ENST00000456515|3|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||SEC22C|processed_transcript|CODING|ENST00000493107|4|T),INTRON(MODIFIER||||72|SEC22C|nonsense_mediated_decay|CODING|ENST00000383750|4|T),INTRON(MODIFIER||||141|SEC22C|protein_coding|CODING|ENST00000450981|4|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 109186501 Proband 89 T A . . Gene=SSH1;MT=SNP;MM=CM;CADD=23.5;VMM=81.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D485V|1049|SSH1|protein_coding|CODING|ENST00000326495|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D173V|737|SSH1|protein_coding|CODING|ENST00000360239|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D485V|692|SSH1|protein_coding|CODING|ENST00000551165|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D496V|703|SSH1|protein_coding|CODING|ENST00000326470|13|A),UTR_3_PRIME(MODIFIER||8196||94|SSH1|nonsense_mediated_decay|CODING|ENST00000546433|6|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 109201572 Proband 89 C T . . Gene=SSH1;MT=SNP;MM=CM;CADD=26.2;VMM=81.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E190K|1049|SSH1|protein_coding|CODING|ENST00000326495|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E190K|692|SSH1|protein_coding|CODING|ENST00000551165|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E201K|703|SSH1|protein_coding|CODING|ENST00000326470|7|T),UTR_5_PRIME(MODIFIER||2676||737|SSH1|protein_coding|CODING|ENST00000360239|8|T),UTR_3_PRIME(MODIFIER||10514||37|SSH1|nonsense_mediated_decay|CODING|ENST00000548522|7|T),UPSTREAM(MODIFIER||106||94|SSH1|nonsense_mediated_decay|CODING|ENST00000546433||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1923||153|SSH1|protein_coding|CODING|ENST00000546697||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3462|||SSH1|processed_transcript|CODING|ENST00000546812||T),EXON(MODIFIER|||||SSH1|retained_intron|CODING|ENST00000547862|3|T),EXON(MODIFIER|||||SSH1|retained_intron|CODING|ENST00000547381|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 125880447 Proband 90 G T . . Gene=CDON;MT=SNP;MM=DN;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S447R|1287|CDON|protein_coding|CODING|ENST00000392693|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S447R|1264|CDON|protein_coding|CODING|ENST00000263577|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S422R|648|CDON|protein_coding|CODING|ENST00000534661|6|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||338||242|CDON|nonsense_mediated_decay|CODING|ENST00000531830|5|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4266|||CDON|retained_intron|CODING|ENST00000525625||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 38173133 Proband 90 G T . . Gene=CSF3;MT=SNP;MM=DN;CADD=20.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G182V|207|CSF3|protein_coding|CODING|ENST00000225474|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G143V|154|CSF3|protein_coding|CODING|ENST00000583218|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G179V|204|CSF3|protein_coding|CODING|ENST00000394149|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G175V|200|CSF3|protein_coding|CODING|ENST00000331769|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G146V|171|CSF3|protein_coding|CODING|ENST00000394148|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G139V|164|CSF3|protein_coding|CODING|ENST00000577675|3|T),UTR_3_PRIME(MODIFIER||370||57|CSF3|nonsense_mediated_decay|CODING|ENST00000579852|4|T),UPSTREAM(MODIFIER||2251|||RP11-387H17.6|lincRNA|NON_CODING|ENST00000583462||T),UPSTREAM(MODIFIER||2175|||RP11-387H17.6|lincRNA|NON_CODING|ENST00000584649||T),DOWNSTREAM(MODIFIER||2217||1014|MED24|protein_coding|CODING|ENST00000394126||T),DOWNSTREAM(MODIFIER||718|||CSF3|retained_intron|CODING|ENST00000582798||T),DOWNSTREAM(MODIFIER||2218||976|MED24|protein_coding|CODING|ENST00000356271||T),DOWNSTREAM(MODIFIER||2222||989|MED24|protein_coding|CODING|ENST00000394128||T),DOWNSTREAM(MODIFIER||2228||976|MED24|protein_coding|CODING|ENST00000394127||T),DOWNSTREAM(MODIFIER||2265||83|MED24|nonsense_mediated_decay|CODING|ENST00000491466||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2293||100|MED24|nonsense_mediated_decay|CODING|ENST00000535508||T),DOWNSTREAM(MODIFIER||2569|||MED24|retained_intron|CODING|ENST00000579364||T),DOWNSTREAM(MODIFIER||2623||292|MED24|protein_coding|CODING|ENST00000422942||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2649||1008|MED24|protein_coding|CODING|ENST00000501516||T),DOWNSTREAM(MODIFIER||2752|||MED24|processed_transcript|CODING|ENST00000470126||T),EXON(MODIFIER|||||CSF3|retained_intron|CODING|ENST00000479880|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6638142 Proband 90 T C . . Gene=NCAPD2;MT=SNP;MM=CM;CADD=29.1;VMM=96.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I1170T|1401|NCAPD2|protein_coding|CODING|ENST00000315579|27|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I1125T|1356|NCAPD2|protein_coding|CODING|ENST00000545962|26|C),UTR_3_PRIME(MODIFIER||18305||81|NCAPD2|nonsense_mediated_decay|CODING|ENST00000539084|26|C),UPSTREAM(MODIFIER||4951||335|GAPDH|protein_coding|CODING|ENST00000229239||C),UPSTREAM(MODIFIER||284|||NCAPD2|processed_transcript|CODING|ENST00000539885||C),DOWNSTREAM(MODIFIER||3314|||RP5-940J5.3|antisense|NON_CODING|ENST00000537921||C),DOWNSTREAM(MODIFIER||885||918|NCAPD2|protein_coding|CODING|ENST00000382457||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||909|||NCAPD2|processed_transcript|CODING|ENST00000542492||C),EXON(MODIFIER|||||NCAPD2|processed_transcript|CODING|ENST00000535804|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6639060 Proband 90 C A . . Gene=NCAPD2;MT=SNP;MM=CM;CADD=23.9;VMM=96.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S1258Y|1401|NCAPD2|protein_coding|CODING|ENST00000315579|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tAc|S1213Y|1356|NCAPD2|protein_coding|CODING|ENST00000545962|28|A),UTR_3_PRIME(MODIFIER||19223||81|NCAPD2|nonsense_mediated_decay|CODING|ENST00000539084|28|A),UPSTREAM(MODIFIER||4033||335|GAPDH|protein_coding|CODING|ENST00000229239||A),UPSTREAM(MODIFIER||4618|||GAPDH|retained_intron|CODING|ENST00000496049||A),UPSTREAM(MODIFIER||4638||260|GAPDH|protein_coding|CODING|ENST00000396856||A),UPSTREAM(MODIFIER||4639|||GAPDH|retained_intron|CODING|ENST00000492719||A),UPSTREAM(MODIFIER||4640||335|GAPDH|protein_coding|CODING|ENST00000396861||A),UPSTREAM(MODIFIER||4647|||GAPDH|retained_intron|CODING|ENST00000474249||A),UPSTREAM(MODIFIER||4860|||GAPDH|retained_intron|CODING|ENST00000466588||A),UPSTREAM(MODIFIER||4860||335|GAPDH|protein_coding|CODING|ENST00000396859||A),UPSTREAM(MODIFIER||4898|||GAPDH|retained_intron|CODING|ENST00000466525||A),DOWNSTREAM(MODIFIER||2396|||RP5-940J5.3|antisense|NON_CODING|ENST00000537921||A),DOWNSTREAM(MODIFIER||1803||918|NCAPD2|protein_coding|CODING|ENST00000382457||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1827|||NCAPD2|processed_transcript|CODING|ENST00000542492||A),DOWNSTREAM(MODIFIER||723|||NCAPD2|processed_transcript|CODING|ENST00000535804||A),EXON(MODIFIER|||||NCAPD2|processed_transcript|CODING|ENST00000539885|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 123471235 Proband 90 C T . . Gene=PITPNM2;MT=SNP;MM=CM;CADD=12.37;VMM=30.8;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1185|1349|PITPNM2|protein_coding|CODING|ENST00000320201|23|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P906|1070|PITPNM2|protein_coding|CODING|ENST00000392428|21|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1179|1343|PITPNM2|protein_coding|CODING|ENST00000280562|23|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1185|1349|PITPNM2|protein_coding|CODING|ENST00000542749|22|T),DOWNSTREAM(MODIFIER||3781|||RP11-197N18.2|retained_intron|NON_CODING|ENST00000540866||T),DOWNSTREAM(MODIFIER||3779||360|ARL6IP4|protein_coding|CODING|ENST00000315580||T),DOWNSTREAM(MODIFIER||3779||341|ARL6IP4|protein_coding|CODING|ENST00000543566||T),DOWNSTREAM(MODIFIER||3780||215|ARL6IP4|nonsense_mediated_decay|CODING|ENST00000539770||T),DOWNSTREAM(MODIFIER||4615||306|ARL6IP4|protein_coding|CODING|ENST00000542099||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3977||338|ARL6IP4|protein_coding|CODING|ENST00000392435||T),DOWNSTREAM(MODIFIER||4150||210|ARL6IP4|protein_coding|CODING|ENST00000413381||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3893||218|ARL6IP4|protein_coding|CODING|ENST00000426960||T),DOWNSTREAM(MODIFIER||3779||352|ARL6IP4|protein_coding|CODING|ENST00000453766||T),DOWNSTREAM(MODIFIER||3779||226|ARL6IP4|protein_coding|CODING|ENST00000454885||T),DOWNSTREAM(MODIFIER||3782|||ARL6IP4|retained_intron|CODING|ENST00000539576||T),DOWNSTREAM(MODIFIER||3923|||ARL6IP4|retained_intron|CODING|ENST00000442210||T),DOWNSTREAM(MODIFIER||3828||170|ARL6IP4|protein_coding|CODING|ENST00000412505||T),DOWNSTREAM(MODIFIER||3798|||ARL6IP4|retained_intron|CODING|ENST00000540708||T),DOWNSTREAM(MODIFIER||3815|||ARL6IP4|retained_intron|CODING|ENST00000536502||T),DOWNSTREAM(MODIFIER||3805|||ARL6IP4|retained_intron|CODING|ENST00000540382||T),DOWNSTREAM(MODIFIER||3982||229|ARL6IP4|protein_coding|CODING|ENST00000439686||T),DOWNSTREAM(MODIFIER||3779|||ARL6IP4|retained_intron|CODING|ENST00000392433||T),DOWNSTREAM(MODIFIER||3957||216|ARL6IP4|protein_coding|CODING|ENST00000456762||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4012||181|ARL6IP4|protein_coding|CODING|ENST00000357866||T),DOWNSTREAM(MODIFIER||3780|||ARL6IP4|retained_intron|CODING|ENST00000536073||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 123481404 Proband 90 A G . . Gene=PITPNM2;MT=SNP;MM=CM;CADD=22.8;VMM=30.8;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I509T|1349|PITPNM2|protein_coding|CODING|ENST00000320201|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I230T|1070|PITPNM2|protein_coding|CODING|ENST00000392428|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I509T|1343|PITPNM2|protein_coding|CODING|ENST00000280562|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I509T|1349|PITPNM2|protein_coding|CODING|ENST00000542749|10|G),DOWNSTREAM(MODIFIER||581|||PITPNM2|retained_intron|CODING|ENST00000436074||G),DOWNSTREAM(MODIFIER||3446||478|PITPNM2|protein_coding|CODING|ENST00000546049||G),DOWNSTREAM(MODIFIER||3447|||PITPNM2|processed_transcript|CODING|ENST00000451868||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 100382357 Proband 91 G GA . . Gene=MCHR2;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||ttc/ttTc|F208F?|340|MCHR2|protein_coding|CODING|ENST00000281806|5|GA),FRAME_SHIFT(HIGH||ttc/ttTc|F208F?|340|MCHR2|protein_coding|CODING|ENST00000369212|5|GA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 72020108 Proband 91 T C . . Gene=ZFC3H1;MT=SNP;MM=CM;CADD=24.1;VMM=75.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K1417E|1989|ZFC3H1|protein_coding|CODING|ENST00000378743|22|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K1417E|1910|ZFC3H1|nonsense_mediated_decay|CODING|ENST00000552994|22|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 72057233 Proband 91 G T . . Gene=ZFC3H1;MT=SNP;MM=CM;CADD=23.9;VMM=75.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P53Q|1989|ZFC3H1|protein_coding|CODING|ENST00000378743|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P53Q|1910|ZFC3H1|nonsense_mediated_decay|CODING|ENST00000552994|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P53Q|346|ZFC3H1|protein_coding|CODING|ENST00000548100|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P53Q|358|ZFC3H1|protein_coding|CODING|ENST00000552037|1|T),START_GAINED(LOW||||228|THAP2|protein_coding|CODING|ENST00000308086|1|T),UTR_5_PRIME(MODIFIER||1057||228|THAP2|protein_coding|CODING|ENST00000308086|1|T),UPSTREAM(MODIFIER||93|||ZFC3H1|processed_transcript|CODING|ENST00000549407||T),UPSTREAM(MODIFIER||1028||52|THAP2|protein_coding|CODING|ENST00000547843||T),UPSTREAM(MODIFIER||2174||109|THAP2|protein_coding|CODING|ENST00000551488||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4330||100|THAP2|protein_coding|CODING|ENST00000551238||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ZFC3H1|processed_transcript|CODING|ENST00000550712|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 168931636 Proband 91 C T . . Gene=STK39;MT=SNP;MM=CM;CADD=23.9;VMM=35.56;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A399T|545|STK39|protein_coding|CODING|ENST00000355999|11|T),EXON(MODIFIER|||||STK39|processed_transcript|CODING|ENST00000487143|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 169020096 Proband 91 A G . . Gene=STK39;MT=SNP;MM=CM;CADD=13.35;VMM=35.56;EFF=INTRON(MODIFIER||||545|STK39|protein_coding|CODING|ENST00000355999|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17366678 Proband 91 A G . . Gene=CNTLN;MT=SNP;MM=CM;CADD=15.94;VMM=46.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I650M|1406|CNTLN|protein_coding|CODING|ENST00000380647|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I650M|1405|CNTLN|protein_coding|CODING|ENST00000262360|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I650M|1406|CNTLN|protein_coding|CODING|ENST00000425824|13|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 17415796 Proband 91 A AT . . Gene=CNTLN;MT=INDEL;MM=CM;CADD=24.9;VMM=46.54;EFF=FRAME_SHIFT(HIGH||cat/caTt|H936H?|1406|CNTLN|protein_coding|CODING|ENST00000380647|17|AT),FRAME_SHIFT(HIGH||cat/caTt|H936H?|1405|CNTLN|protein_coding|CODING|ENST00000262360|17|AT),FRAME_SHIFT(HIGH||cat/caTt|H936H?|1406|CNTLN|protein_coding|CODING|ENST00000425824|17|AT),UPSTREAM(MODIFIER||19|||CNTLN|processed_transcript|CODING|ENST00000461247||AT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 31398651 Proband 92 C T . . Gene=STRN3;MT=SNP;MM=DN;CADD=17.31;VMM=0;EFF=INTRON(MODIFIER||||797|STRN3|protein_coding|CODING|ENST00000357479|7|T),INTRON(MODIFIER||||713|STRN3|protein_coding|CODING|ENST00000355683|7|T),INTRON(MODIFIER||||332|STRN3|nonsense_mediated_decay|CODING|ENST00000555358|7|T),INTRON(MODIFIER|||||STRN3|processed_transcript|CODING|ENST00000366206|1|T),INTRON(MODIFIER||||138|STRN3|protein_coding|CODING|ENST00000554991|1|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||170|STRN3|protein_coding|CODING|ENST00000556577|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 52924606 Proband 92 C T . . Gene=TCF4;MT=SNP;MM=DN;CADD=51;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W464*|773|TCF4|protein_coding|CODING|ENST00000398339|15|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W362*|671|TCF4|protein_coding|CODING|ENST00000354452|14|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W362*|667|TCF4|protein_coding|CODING|ENST00000356073|14|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W338*|647|TCF4|protein_coding|CODING|ENST00000568673|13|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W202*|511|TCF4|protein_coding|CODING|ENST00000457482|7|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W320*|625|TCF4|protein_coding|CODING|ENST00000543082|12|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W338*|643|TCF4|protein_coding|CODING|ENST00000540999|13|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W338*|647|TCF4|protein_coding|CODING|ENST00000537578|13|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W362*|667|TCF4|protein_coding|CODING|ENST00000564999|14|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W337*|642|TCF4|protein_coding|CODING|ENST00000568740|13|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W232*|537|TCF4|protein_coding|CODING|ENST00000537856|9|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W291*|600|TCF4|protein_coding|CODING|ENST00000544241|10|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W232*|537|TCF4|protein_coding|CODING|ENST00000561992|10|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W202*|507|TCF4|protein_coding|CODING|ENST00000561831|7|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W362*|671|TCF4|protein_coding|CODING|ENST00000565018|14|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W202*|507|TCF4|protein_coding|CODING|ENST00000570287|7|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W291*|596|TCF4|protein_coding|CODING|ENST00000564228|10|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W302*|607|TCF4|protein_coding|CODING|ENST00000567880|11|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W359*|664|TCF4|protein_coding|CODING|ENST00000566286|13|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W302*|611|TCF4|protein_coding|CODING|ENST00000566279|12|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W368*|677|TCF4|protein_coding|CODING|ENST00000564403|14|T),STOP_GAINED(HIGH|NONSENSE|tgG/tgA|W232*|537|TCF4|protein_coding|CODING|ENST00000570177|9|T),DOWNSTREAM(MODIFIER||2246||165|TCF4|protein_coding|CODING|ENST00000570146||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||TCF4|retained_intron|CODING|ENST00000562680|9|T),EXON(MODIFIER|||||TCF4|processed_transcript|CODING|ENST00000563760|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 167262592 Proband 92 C T . . Gene=SCN7A;MT=SNP;MM=HR;CADD=22.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1516K|1682|SCN7A|protein_coding|CODING|ENST00000409855|25|T),UTR_3_PRIME(MODIFIER||26633||762|SCN7A|nonsense_mediated_decay|CODING|ENST00000424326|26|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 108121543 Proband 92 C T . . Gene=ATM;MT=SNP;MM=CM;CADD=33;VMM=122.52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|3056|ATM|protein_coding|CODING|ENST00000278616|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|1368|ATM|protein_coding|CODING|ENST00000527805|10|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|3056|ATM|protein_coding|CODING|ENST00000452508|11|T),UPSTREAM(MODIFIER||2005|||ATM|processed_transcript|CODING|ENST00000525012||T),UPSTREAM(MODIFIER||2005|||ATM|processed_transcript|CODING|ENST00000533526||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 108196068 Proband 92 T G . . Gene=ATM;MT=SNP;MM=CM;CADD=25.3;VMM=122.52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y2202D|3056|ATM|protein_coding|CODING|ENST00000278616|46|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Gat|Y2202D|3056|ATM|protein_coding|CODING|ENST00000452508|47|G),UPSTREAM(MODIFIER||2053|||ATM|retained_intron|CODING|ENST00000525537||G),UPSTREAM(MODIFIER||2303|||ATM|retained_intron|CODING|ENST00000527389||G),INTRON(MODIFIER||||246|C11orf65|protein_coding|CODING|ENST00000525729|6|G),EXON(MODIFIER|||||ATM|retained_intron|CODING|ENST00000524792|20|G),EXON(MODIFIER|||||ATM|retained_intron|CODING|ENST00000533690|14|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 88498553 Proband 92 G A . . Gene=ZNF469;MT=SNP;MM=CM;CADD=27;VMM=86.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1559K|3953|ZNF469|protein_coding|CODING|ENST00000565624|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1531K|3925|ZNF469|protein_coding|CODING|ENST00000437464|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 88504239 Proband 92 G A . . Gene=ZNF469;MT=SNP;MM=CM;CADD=23.7;VMM=86.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3454Q|3953|ZNF469|protein_coding|CODING|ENST00000565624|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3426Q|3925|ZNF469|protein_coding|CODING|ENST00000437464|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2227412 Proband 92 CTT C . . Gene=TSR1;MT=INDEL;MM=CM;CADD=9.932;VMM=34.68;EFF=UTR_3_PRIME(MODIFIER||246||340|SRR|protein_coding|CODING|ENST00000344595|8|C),UTR_3_PRIME(MODIFIER||76||804|TSR1|protein_coding|CODING|ENST00000301364|15|C),DOWNSTREAM(MODIFIER||5000|||SNORD91B|snoRNA|NON_CODING|ENST00000391250||C),DOWNSTREAM(MODIFIER||870||149|SRR|protein_coding|CODING|ENST00000576620||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||155||114|SRR|protein_coding|CODING|ENST00000576848||C),DOWNSTREAM(MODIFIER||897||77|SRR|protein_coding|CODING|ENST00000574987||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||572||52|TSR1|nonsense_mediated_decay|CODING|ENST00000575049||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2227825 Proband 92 G A . . Gene=TSR1;MT=SNP;MM=CM;CADD=34;VMM=34.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R737W|804|TSR1|protein_coding|CODING|ENST00000301364|14|A),UTR_3_PRIME(MODIFIER||658||340|SRR|protein_coding|CODING|ENST00000344595|8|A),DOWNSTREAM(MODIFIER||4588|||SNORD91B|snoRNA|NON_CODING|ENST00000391250||A),DOWNSTREAM(MODIFIER||1282||149|SRR|protein_coding|CODING|ENST00000576620||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||567||114|SRR|protein_coding|CODING|ENST00000576848||A),DOWNSTREAM(MODIFIER||1309||77|SRR|protein_coding|CODING|ENST00000574987||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||160||52|TSR1|nonsense_mediated_decay|CODING|ENST00000575049||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4594|||SNORD91B|sense_intronic|NON_CODING|ENST00000608459||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 56348122 Proband 92 G A . . Gene=MPO;MT=SNP;MM=CM;CADD=13.72;VMM=35.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T743|777|MPO|protein_coding|CODING|ENST00000340482|11|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T711|745|MPO|protein_coding|CODING|ENST00000225275|12|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T76|85|MPO|protein_coding|CODING|ENST00000577220|3|A|WARNING_TRANSCRIPT_INCOMPLETE),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||745|MPO|protein_coding|CODING||12|A),DOWNSTREAM(MODIFIER||2243||712|LPO|protein_coding|CODING|ENST00000262290||A),DOWNSTREAM(MODIFIER||2535||629|LPO|protein_coding|CODING|ENST00000582328||A),DOWNSTREAM(MODIFIER||2244||629|LPO|protein_coding|CODING|ENST00000421678||A),DOWNSTREAM(MODIFIER||2619||653|LPO|protein_coding|CODING|ENST00000543544||A),DOWNSTREAM(MODIFIER||2323||95|LPO|nonsense_mediated_decay|CODING|ENST00000580890||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2243||117|LPO|nonsense_mediated_decay|CODING|ENST00000389576||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4810|||MPO|processed_transcript|CODING|ENST00000578493||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 56356398 Proband 92 C A . . Gene=MPO;MT=SNP;MM=CM;CADD=23.2;VMM=35.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V318F|777|MPO|protein_coding|CODING|ENST00000340482|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ttt|V286F|745|MPO|protein_coding|CODING|ENST00000225275|6|A),UPSTREAM(MODIFIER||918|||MPO|processed_transcript|CODING|ENST00000578493||A),DOWNSTREAM(MODIFIER||839|||MPO|processed_transcript|CODING|ENST00000580005||A),EXON(MODIFIER|||||MPO|retained_intron|CODING|ENST00000581022|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 58256390 Proband 92 G C . . Gene=USP32;MT=SNP;MM=CM;CADD=12.99;VMM=33.61;EFF=DOWNSTREAM(MODIFIER||65||1604|USP32|protein_coding|CODING|ENST00000300896||C),DOWNSTREAM(MODIFIER||76||1274|USP32|protein_coding|CODING|ENST00000592339||C),DOWNSTREAM(MODIFIER||82||173|USP32|protein_coding|CODING|ENST00000593071||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4157|||USP32|retained_intron|CODING|ENST00000586238||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 58282852 Proband 92 C T . . Gene=USP32;MT=SNP;MM=CM;CADD=23.4;VMM=33.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1069N|1604|USP32|protein_coding|CODING|ENST00000300896|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D739N|1274|USP32|protein_coding|CODING|ENST00000592339|18|T),DOWNSTREAM(MODIFIER||2238|||USP32|retained_intron|CODING|ENST00000585720||T),DOWNSTREAM(MODIFIER||3926||846|USP32|protein_coding|CODING|ENST00000590133||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 46385992 Proband 93 C T . . Gene=SULF2;MT=SNP;MM=HM;CADD=35;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R39H|870|SULF2|protein_coding|CODING|ENST00000359930|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R39H|870|SULF2|protein_coding|CODING|ENST00000484875|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R39H|852|SULF2|protein_coding|CODING|ENST00000361612|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R39H|867|SULF2|protein_coding|CODING|ENST00000467815|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R39H|188|SULF2|protein_coding|CODING|ENST00000437955|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||SULF2|processed_transcript|CODING|ENST00000474450|1|T),EXON(MODIFIER|||||SULF2|retained_intron|CODING|ENST00000463221|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 128843429 Proband 93 C T . . Gene=SMO;MT=SNP;MM=HR;CADD=26.5;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T179M|787|SMO|protein_coding|CODING|ENST00000249373|2|T),UPSTREAM(MODIFIER||2193||151|SMO|nonsense_mediated_decay|CODING|ENST00000462420||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2697|||SMO|retained_intron|CODING|ENST00000495998||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58973982 Proband 93 G A . . Gene=DTX4;MT=SNP;MM=CM;CADD=16.71;VMM=40.43;EFF=UTR_3_PRIME(MODIFIER||1600||619|DTX4|protein_coding|CODING|ENST00000227451|9|A),DOWNSTREAM(MODIFIER||2001||716|MPEG1|protein_coding|CODING|ENST00000361050||A),DOWNSTREAM(MODIFIER||1600||513|DTX4|protein_coding|CODING|ENST00000532982||A),DOWNSTREAM(MODIFIER||1751|||DTX4|retained_intron|CODING|ENST00000527475||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 58974983 Proband 93 CTG C . . Gene=DTX4;MT=INDEL;MM=CM;CADD=20.9;VMM=40.43;EFF=UTR_3_PRIME(MODIFIER||2602||619|DTX4|protein_coding|CODING|ENST00000227451|9|C),DOWNSTREAM(MODIFIER||999||716|MPEG1|protein_coding|CODING|ENST00000361050||C),DOWNSTREAM(MODIFIER||2602||513|DTX4|protein_coding|CODING|ENST00000532982||C),DOWNSTREAM(MODIFIER||2753|||DTX4|retained_intron|CODING|ENST00000527475||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 1940359 Proband 93 G A . . Gene=LRTM2;MT=SNP;MM=CM;CADD=16.02;VMM=62.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R109H|370|LRTM2|protein_coding|CODING|ENST00000299194|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R109H|370|LRTM2|protein_coding|CODING|ENST00000543818|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R109H|370|LRTM2|protein_coding|CODING|ENST00000535041|4|A),DOWNSTREAM(MODIFIER||3465|||LRTM2|processed_transcript|CODING|ENST00000545157||A),DOWNSTREAM(MODIFIER||3396|||LRTM2|processed_transcript|CODING|ENST00000542529||A),DOWNSTREAM(MODIFIER||225|||LRTM2|processed_transcript|CODING|ENST00000544489||A),DOWNSTREAM(MODIFIER||3377|||LRTM2|processed_transcript|CODING|ENST00000539859||A),DOWNSTREAM(MODIFIER||47||92|LRTM2|protein_coding|CODING|ENST00000546167||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||39||94|LRTM2|protein_coding|CODING|ENST00000543694||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||92|||LRTM2|processed_transcript|CODING|ENST00000546157||A),INTRON(MODIFIER||||1154|CACNA2D4|protein_coding|CODING|ENST00000586184|26|A),INTRON(MODIFIER||||1137|CACNA2D4|protein_coding|CODING|ENST00000382722|26|A),INTRON(MODIFIER||||191|CACNA2D4|nonsense_mediated_decay|CODING|ENST00000537784|4|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||CACNA2D4|retained_intron|CODING|ENST00000280663|26|A),INTRON(MODIFIER||||601|CACNA2D4|nonsense_mediated_decay|CODING|ENST00000444595|26|A),INTRON(MODIFIER||||1112|CACNA2D4|protein_coding|CODING|ENST00000587995|25|A),INTRON(MODIFIER||||1073|CACNA2D4|protein_coding|CODING|ENST00000588077|26|A),INTRON(MODIFIER||||1090|CACNA2D4|protein_coding|CODING|ENST00000585708|26|A),INTRON(MODIFIER||||780|CACNA2D4|protein_coding|CODING|ENST00000585732|22|A),INTRON(MODIFIER|||||LRTM2|processed_transcript|CODING|ENST00000543730|1|A),EXON(MODIFIER|||||LRTM2|processed_transcript|CODING|ENST00000540378|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 1943826 Proband 93 C T . . Gene=LRTM2;MT=SNP;MM=CM;CADD=32;VMM=62.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P351L|370|LRTM2|protein_coding|CODING|ENST00000299194|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P351L|370|LRTM2|protein_coding|CODING|ENST00000543818|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P351L|370|LRTM2|protein_coding|CODING|ENST00000535041|5|T),DOWNSTREAM(MODIFIER||3692|||LRTM2|processed_transcript|CODING|ENST00000544489||T),DOWNSTREAM(MODIFIER||3430|||LRTM2|processed_transcript|CODING|ENST00000540378||T),DOWNSTREAM(MODIFIER||3514||92|LRTM2|protein_coding|CODING|ENST00000546167||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3506||94|LRTM2|protein_coding|CODING|ENST00000543694||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3559|||LRTM2|processed_transcript|CODING|ENST00000546157||T),INTRON(MODIFIER||||1154|CACNA2D4|protein_coding|CODING|ENST00000586184|26|T),INTRON(MODIFIER||||1137|CACNA2D4|protein_coding|CODING|ENST00000382722|26|T),INTRON(MODIFIER||||191|CACNA2D4|nonsense_mediated_decay|CODING|ENST00000537784|4|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||CACNA2D4|retained_intron|CODING|ENST00000280663|26|T),INTRON(MODIFIER||||601|CACNA2D4|nonsense_mediated_decay|CODING|ENST00000444595|26|T),INTRON(MODIFIER||||1112|CACNA2D4|protein_coding|CODING|ENST00000587995|25|T),INTRON(MODIFIER||||1073|CACNA2D4|protein_coding|CODING|ENST00000588077|26|T),INTRON(MODIFIER||||1090|CACNA2D4|protein_coding|CODING|ENST00000585708|26|T),INTRON(MODIFIER||||780|CACNA2D4|protein_coding|CODING|ENST00000585732|22|T),EXON(MODIFIER|||||LRTM2|processed_transcript|CODING|ENST00000543730|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56992746 Proband 93 C G . . Gene=BAZ2A;MT=SNP;MM=CM;CADD=25;VMM=81.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E1820Q|1905|BAZ2A|protein_coding|CODING|ENST00000551812|28|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E1790Q|1875|BAZ2A|protein_coding|CODING|ENST00000379441|29|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E1788Q|1873|BAZ2A|protein_coding|CODING|ENST00000179765|29|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E752Q|837|BAZ2A|protein_coding|CODING|ENST00000549787|12|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E1818Q|1903|BAZ2A|protein_coding|CODING|ENST00000549884|28|G),DOWNSTREAM(MODIFIER||1506|||BAZ2A|processed_transcript|CODING|ENST00000553222||G),DOWNSTREAM(MODIFIER||1782||160|BAZ2A|protein_coding|CODING|ENST00000547453||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56996556 Proband 93 C T . . Gene=BAZ2A;MT=SNP;MM=CM;CADD=24.4;VMM=81.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1124H|1905|BAZ2A|protein_coding|CODING|ENST00000551812|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1094H|1875|BAZ2A|protein_coding|CODING|ENST00000379441|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1092H|1873|BAZ2A|protein_coding|CODING|ENST00000179765|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R60H|837|BAZ2A|protein_coding|CODING|ENST00000549787|3|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1122H|1903|BAZ2A|protein_coding|CODING|ENST00000549884|19|T),UPSTREAM(MODIFIER||1243|||BAZ2A|processed_transcript|CODING|ENST00000553222||T),UPSTREAM(MODIFIER||1145||160|BAZ2A|protein_coding|CODING|ENST00000547453||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1468|||BAZ2A|retained_intron|CODING|ENST00000551759||T),DOWNSTREAM(MODIFIER||2443|||BAZ2A|processed_transcript|CODING|ENST00000549763||T),DOWNSTREAM(MODIFIER||2456|||BAZ2A|retained_intron|CODING|ENST00000548578||T),DOWNSTREAM(MODIFIER||3220||203|BAZ2A|protein_coding|CODING|ENST00000547650||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 71840504 Proband 93 C T . . Gene=DYSF;MT=SNP;MM=CM;CADD=18.09;VMM=38.14;EFF=SPLICE_SITE_REGION+EXON(LOW|||||DYSF|processed_transcript|CODING|ENST00000487180|5|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1476|2119|DYSF|protein_coding|CODING|ENST00000410020|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1475|2118|DYSF|protein_coding|CODING|ENST00000409582|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1475|2097|DYSF|protein_coding|CODING|ENST00000409762|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1489|2111|DYSF|protein_coding|CODING|ENST00000413539|41|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1458|2101|DYSF|protein_coding|CODING|ENST00000429174|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1458|2080|DYSF|protein_coding|CODING|ENST00000258104|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1459|2081|DYSF|protein_coding|CODING|ENST00000394120|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1459|2102|DYSF|protein_coding|CODING|ENST00000409366|40|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1490|2112|DYSF|protein_coding|CODING|ENST00000409651|41|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1445|2088|DYSF|protein_coding|CODING|ENST00000409744|39|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I1476|2098|DYSF|protein_coding|CODING|ENST00000410041|40|T),DOWNSTREAM(MODIFIER||685|||DYSF|processed_transcript|CODING|ENST00000472873||T),DOWNSTREAM(MODIFIER||661|||DYSF|processed_transcript|CODING|ENST00000494501||T),EXON(MODIFIER|||||DYSF|processed_transcript|CODING|ENST00000479049|11|T),EXON(MODIFIER|||||DYSF|processed_transcript|CODING|ENST00000468173|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 71909741 Proband 93 C T . . Gene=DYSF;MT=SNP;MM=CM;CADD=18.31;VMM=38.14;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2085|2119|DYSF|protein_coding|CODING|ENST00000410020|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2084|2118|DYSF|protein_coding|CODING|ENST00000409582|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2063|2097|DYSF|protein_coding|CODING|ENST00000409762|54|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2077|2111|DYSF|protein_coding|CODING|ENST00000413539|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2067|2101|DYSF|protein_coding|CODING|ENST00000429174|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2046|2080|DYSF|protein_coding|CODING|ENST00000258104|54|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2047|2081|DYSF|protein_coding|CODING|ENST00000394120|54|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2068|2102|DYSF|protein_coding|CODING|ENST00000409366|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2078|2112|DYSF|protein_coding|CODING|ENST00000409651|55|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2054|2088|DYSF|protein_coding|CODING|ENST00000409744|54|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2064|2098|DYSF|protein_coding|CODING|ENST00000410041|54|T),EXON(MODIFIER|||||DYSF|processed_transcript|CODING|ENST00000479049|25|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 103644191 Proband 93 T C . . Gene=MANBA;MT=SNP;MM=CM;CADD=24.5;VMM=30.8;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D129G|879|MANBA|protein_coding|CODING|ENST00000226578|4|C),DOWNSTREAM(MODIFIER||4240|||LRRC37A15P|processed_pseudogene|NON_CODING|ENST00000514785||C),DOWNSTREAM(MODIFIER||840||68|MANBA|nonsense_mediated_decay|CODING|ENST00000511813||C),INTRON(MODIFIER||||822|MANBA|protein_coding|CODING|ENST00000505239|3|C),EXON(MODIFIER|||||MANBA|retained_intron|CODING|ENST00000514430|4|C),EXON(MODIFIER|||||MANBA|retained_intron|CODING|ENST00000506478|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 103673504 Proband 93 C T . . Gene=MANBA;MT=SNP;MM=CM;CADD=11.65;VMM=30.8;EFF=DOWNSTREAM(MODIFIER||1344|||MANBA|retained_intron|CODING|ENST00000507358||T),INTRON(MODIFIER||||879|MANBA|protein_coding|CODING|ENST00000226578|1|T),INTRON(MODIFIER|||||MANBA|retained_intron|CODING|ENST00000514430|1|T),INTRON(MODIFIER||||822|MANBA|protein_coding|CODING|ENST00000505239|1|T),INTRON(MODIFIER||||68|MANBA|nonsense_mediated_decay|CODING|ENST00000511813|2|T),EXON(MODIFIER|||||RP11-10L12.2|processed_pseudogene|NON_CODING|ENST00000513388|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 89923316 Proband 93 G T . . Gene=GPR98;MT=SNP;MM=CM;CADD=28.4;VMM=119.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Tac|D321Y|6306|GPR98|protein_coding|CODING|ENST00000405460|7|T),UPSTREAM(MODIFIER||1060||1054|GPR98|protein_coding|CODING|ENST00000504142||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4828||147|GPR98|protein_coding|CODING|ENST00000508842||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 90445854 Proband 93 A T . . Gene=GPR98;MT=SNP;MM=CM;CADD=28.7;VMM=119.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tTt|Y6147F|6306|GPR98|protein_coding|CODING|ENST00000405460|88|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tTt|Y1808F|1967|GPR98|protein_coding|CODING|ENST00000425867|24|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 86250646 Proband 93 C T . . Gene=CA1;MT=SNP;MM=CM;CADD=25.3;VMM=40.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000256119|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000523953|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000432364|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000542576|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000431316|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|261|CA1|protein_coding|CODING|ENST00000523022|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|250|CA1|protein_coding|CODING|ENST00000517618|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|174|CA1|protein_coding|CODING|ENST00000517590|4|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|81|CA1|nonsense_mediated_decay|CODING|ENST00000517429|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|148|CA1|protein_coding|CODING|ENST00000521846|5|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|148|CA1|protein_coding|CODING|ENST00000522579|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|147|CA1|protein_coding|CODING|ENST00000522814|4|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|117|CA1|protein_coding|CODING|ENST00000522662|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A24T|98|CA1|protein_coding|CODING|ENST00000523858|5|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||122||177|CA1|protein_coding|CODING|ENST00000521679||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1205|||CA1|retained_intron|CODING|ENST00000523712||T),DOWNSTREAM(MODIFIER||3||21|CA1|protein_coding|CODING|ENST00000519129||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2998|||CA1|retained_intron|CODING|ENST00000520692||T),INTRON(MODIFIER||||127|CA1|protein_coding|CODING|ENST00000522389|1|T),INTRON(MODIFIER||||193|CA1|protein_coding|CODING|ENST00000524324|2|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||136|CA1|protein_coding|CODING|ENST00000519991|2|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||86|CA1|protein_coding|CODING|ENST00000520663|3|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||CA1|retained_intron|CODING|ENST00000518233|1|T),EXON(MODIFIER|||||CA1|processed_transcript|CODING|ENST00000518341|4|T),EXON(MODIFIER|||||CA1|retained_intron|CODING|ENST00000520093|3|T),EXON(MODIFIER|||||CA1|retained_intron|CODING|ENST00000520990|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 86263816 Proband 93 C T . . Gene=CA1;MT=SNP;MM=CM;CADD=14.11;VMM=40.55;EFF=UPSTREAM(MODIFIER||1686||261|CA1|protein_coding|CODING|ENST00000431316||T),INTRON(MODIFIER||||261|CA1|protein_coding|CODING|ENST00000256119|1|T),INTRON(MODIFIER||||261|CA1|protein_coding|CODING|ENST00000523953|2|T),INTRON(MODIFIER||||261|CA1|protein_coding|CODING|ENST00000523022|1|T),INTRON(MODIFIER||||193|CA1|protein_coding|CODING|ENST00000524324|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||136|CA1|protein_coding|CODING|ENST00000519991|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||86|CA1|protein_coding|CODING|ENST00000520663|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||174|CA1|protein_coding|CODING|ENST00000517590|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||81|CA1|nonsense_mediated_decay|CODING|ENST00000517429|1|T),INTRON(MODIFIER||||148|CA1|protein_coding|CODING|ENST00000521846|2|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||CA1|processed_transcript|CODING|ENST00000518341|1|T),INTRON(MODIFIER||||148|CA1|protein_coding|CODING|ENST00000522579|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||147|CA1|protein_coding|CODING|ENST00000522814|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||117|CA1|protein_coding|CODING|ENST00000522662|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||98|CA1|protein_coding|CODING|ENST00000523858|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||CA1|retained_intron|CODING|ENST00000520093|1|T),INTRON(MODIFIER|||||CA1|retained_intron|CODING|ENST00000520990|1|T),INTRON(MODIFIER||||21|CA1|protein_coding|CODING|ENST00000519129|2|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 113293543 Proband 93 C T . . Gene=CSMD3;MT=SNP;MM=CM;CADD=33;VMM=35.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G3123E|3707|CSMD3|protein_coding|CODING|ENST00000297405|59|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G3083E|3667|CSMD3|protein_coding|CODING|ENST00000343508|60|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2393E|2977|CSMD3|protein_coding|CODING|ENST00000339701|44|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G2954E|3538|CSMD3|protein_coding|CODING|ENST00000455883|57|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G3053E|3637|CSMD3|protein_coding|CODING|ENST00000352409|57|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 114448922 Proband 93 C G . . Gene=CSMD3;MT=SNP;MM=CM;CADD=10.39;VMM=35.79;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acC|T54|3707|CSMD3|protein_coding|CODING|ENST00000297405|1|G),SYNONYMOUS_CODING(LOW|SILENT|acG/acC|T54|3538|CSMD3|protein_coding|CODING|ENST00000455883|1|G),SYNONYMOUS_CODING(LOW|SILENT|acG/acC|T54|3637|CSMD3|protein_coding|CODING|ENST00000352409|1|G),EXON(MODIFIER|||||CSMD3|retained_intron|CODING|ENST00000497026|1|G),EXON(MODIFIER|||||CSMD3|retained_intron|CODING|ENST00000493303|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 80912169 Proband 93 G C . . Gene=PSAT1;MT=SNP;MM=CM;CADD=33;VMM=171.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A15P|370|PSAT1|protein_coding|CODING|ENST00000376588|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A15P|324|PSAT1|protein_coding|CODING|ENST00000347159|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 80921299 Proband 93 C T . . Gene=PSAT1;MT=SNP;MM=CM;CADD=32;VMM=171.06;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||370|PSAT1|protein_coding|CODING||5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T156M|370|PSAT1|protein_coding|CODING|ENST00000376588|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T156M|324|PSAT1|protein_coding|CODING|ENST00000347159|5|T),NEXT_PROT[binding-site:Pyridoxal_phosphate](LOW||||370|PSAT1|protein_coding|CODING||5|T),NEXT_PROT[turn:combinatorial_evidence_used_in_manual_assertion](LOW||||370|PSAT1|protein_coding|CODING||5|T),NEXT_PROT[binding-site:Pyridoxal_phosphate](LOW||||324|PSAT1|protein_coding|CODING||5|T),NEXT_PROT[turn:combinatorial_evidence_used_in_manual_assertion](LOW||||324|PSAT1|protein_coding|CODING||5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 174074559 Proband 94 TGGA T . . Gene=ZAK;MT=INDEL;MM=DN;CADD=23;VMM=0;EFF=CODON_DELETION+SPLICE_SITE_REGION(MODERATE||tggagg/tgg|WR283W|800|MLTK|protein_coding|CODING|ENST00000375213|10|T),CODON_DELETION+SPLICE_SITE_REGION(MODERATE||tggagg/tgg|WR283W|455|MLTK|protein_coding|CODING|ENST00000539448|10|T),CODON_DELETION+SPLICE_SITE_REGION(MODERATE||tggagg/tgg|WR283W|800|MLTK|protein_coding|CODING|ENST00000409176|10|T),CODON_DELETION+SPLICE_SITE_REGION(MODERATE||tggagg/tgg|WR283W|455|MLTK|protein_coding|CODING|ENST00000338983|10|T),CODON_DELETION+SPLICE_SITE_REGION(MODERATE||tggagg/tgg|WR182W|354|MLTK|protein_coding|CODING|ENST00000431503|9|T),UPSTREAM(MODIFIER||2220|||MLK7-AS1|antisense|NON_CODING|ENST00000419609||T),INTRON(MODIFIER|||||MLK7-AS1|antisense|NON_CODING|ENST00000422703|1|T),EXON(MODIFIER|||||MLK7-AS1|antisense|NON_CODING|ENST00000423106|6|T),EXON(MODIFIER|||||MLTK|retained_intron|CODING|ENST00000476618|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 227223273 Proband 94 T C . . Gene=CDC42BPA;MT=SNP;MM=CM;CADD=24.5;VMM=40.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1044E|1781|CDC42BPA|protein_coding|CODING|ENST00000334218|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K963E|1638|CDC42BPA|protein_coding|CODING|ENST00000366767|23|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1044E|1719|CDC42BPA|protein_coding|CODING|ENST00000366769|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K246E|983|CDC42BPA|protein_coding|CODING|ENST00000448940|8|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1016E|1691|CDC42BPA|protein_coding|CODING|ENST00000366764|23|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1079E|1754|CDC42BPA|protein_coding|CODING|ENST00000366766|25|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K372E|1047|CDC42BPA|protein_coding|CODING|ENST00000442054|11|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1024E|1699|CDC42BPA|protein_coding|CODING|ENST00000535525|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K1057E|1732|CDC42BPA|protein_coding|CODING|ENST00000366765|25|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K268E|726|CDC42BPA|protein_coding|CODING|ENST00000441725|9|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||855||545|CDC42BPA|protein_coding|CODING|ENST00000429440||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 227261648 Proband 94 C T . . Gene=CDC42BPA;MT=SNP;MM=CM;CADD=14.41;VMM=40.21;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1781|CDC42BPA|protein_coding|CODING|ENST00000334218|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S803|1638|CDC42BPA|protein_coding|CODING|ENST00000366767|18|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1719|CDC42BPA|protein_coding|CODING|ENST00000366769|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S86|983|CDC42BPA|protein_coding|CODING|ENST00000448940|3|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1691|CDC42BPA|protein_coding|CODING|ENST00000366764|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1754|CDC42BPA|protein_coding|CODING|ENST00000366766|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S177|1047|CDC42BPA|protein_coding|CODING|ENST00000442054|5|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1699|CDC42BPA|protein_coding|CODING|ENST00000535525|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S884|1732|CDC42BPA|protein_coding|CODING|ENST00000366765|19|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S57|726|CDC42BPA|protein_coding|CODING|ENST00000441725|2|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||CDC42BPA|processed_transcript|CODING|ENST00000488131|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 40367409 Proband 94 AGT A . . Gene=FCGBP;MT=INDEL;MM=CM;CADD=35;VMM=43.16;EFF=FRAME_SHIFT(HIGH||act/|T4517|5405|FCGBP|protein_coding|CODING|ENST00000221347|29|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 40389792 Proband 94 G A . . Gene=FCGBP;MT=SNP;MM=CM;CADD=11.42;VMM=43.16;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cCg/cTg|P2797L|5405|FCGBP|protein_coding|CODING|ENST00000221347|18|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cCg/cTg|P113L|157|FCGBP|protein_coding|CODING|ENST00000601713|3|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 94006194 Proband 94 G A . . Gene=GRID2;MT=SNP;MM=CM;CADD=24.6;VMM=34.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G98D|1007|GRID2|protein_coding|CODING|ENST00000282020|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G13D|163|GRID2|nonsense_mediated_decay|CODING|ENST00000502699|2|A),INTRON(MODIFIER||||912|GRID2|protein_coding|CODING|ENST00000510992|2|A),EXON(MODIFIER|||||GRID2|processed_transcript|CODING|ENST00000505687|3|A),EXON(MODIFIER|||||GRID2|processed_transcript|CODING|ENST00000515744|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 94138172 Proband 94 A G . . Gene=GRID2;MT=SNP;MM=CM;CADD=12.6;VMM=34.11;EFF=INTRON(MODIFIER||||1007|GRID2|protein_coding|CODING|ENST00000282020|6|G),INTRON(MODIFIER||||912|GRID2|protein_coding|CODING|ENST00000510992|5|G),INTRON(MODIFIER||||72|GRID2|protein_coding|CODING|ENST00000512631|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||GRID2|processed_transcript|CODING|ENST00000505687|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 80275429 Proband 94 T G . . Gene=CD36;MT=SNP;MM=CM;CADD=12.22;VMM=38.66;EFF=START_GAINED(LOW||||472|CD36|protein_coding|CODING|ENST00000309881|2|G),START_GAINED(LOW||||472|CD36|protein_coding|CODING|ENST00000435819|5|G),START_GAINED(LOW||||142|CD36|protein_coding|CODING|ENST00000438020|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||92|CD36|protein_coding|CODING|ENST00000436384|2|G|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||92|CD36|protein_coding|CODING|ENST00000428497|2|G|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||64|CD36|protein_coding|CODING|ENST00000482059|3|G|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||472|CD36|protein_coding|CODING|ENST00000394788|2|G),START_GAINED(LOW||||472|CD36|protein_coding|CODING|ENST00000447544|2|G),UTR_5_PRIME(MODIFIER||628||472|CD36|protein_coding|CODING|ENST00000309881|2|G),UTR_5_PRIME(MODIFIER||628||472|CD36|protein_coding|CODING|ENST00000435819|5|G),UTR_5_PRIME(MODIFIER||628||142|CD36|protein_coding|CODING|ENST00000438020|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||628||92|CD36|protein_coding|CODING|ENST00000436384|2|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||628||92|CD36|protein_coding|CODING|ENST00000428497|2|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||628||64|CD36|protein_coding|CODING|ENST00000482059|3|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||628||472|CD36|protein_coding|CODING|ENST00000394788|2|G),UTR_5_PRIME(MODIFIER||628||472|CD36|protein_coding|CODING|ENST00000447544|2|G),UPSTREAM(MODIFIER||216||147|CD36|protein_coding|CODING|ENST00000426978||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||216||472|CD36|protein_coding|CODING|ENST00000432207||G),UPSTREAM(MODIFIER||249||202|CD36|protein_coding|CODING|ENST00000413265||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||333||462|CD36|protein_coding|CODING|ENST00000419819||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||537||288|CD36|protein_coding|CODING|ENST00000544133||G),UPSTREAM(MODIFIER||537||412|CD36|protein_coding|CODING|ENST00000538969||G),UPSTREAM(MODIFIER||540||433|CD36|protein_coding|CODING|ENST00000433696||G),UPSTREAM(MODIFIER||596||99|CD36|nonsense_mediated_decay|CODING|ENST00000441034||G),INTRON(MODIFIER||||396|CD36|protein_coding|CODING|ENST00000534394|1|G),EXON(MODIFIER|||||CD36|retained_intron|CODING|ENST00000480599|2|G),EXON(MODIFIER|||||CD36|processed_transcript|CODING|ENST00000526804|3|G),EXON(MODIFIER|||||CD36|processed_transcript|CODING|ENST00000441109|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 80301336 Proband 94 A C . . Gene=CD36;MT=SNP;MM=CM;CADD=28.8;VMM=38.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|472|CD36|protein_coding|CODING|ENST00000309881|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|472|CD36|protein_coding|CODING|ENST00000435819|14|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T293P|396|CD36|protein_coding|CODING|ENST00000534394|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|472|CD36|protein_coding|CODING|ENST00000394788|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|472|CD36|protein_coding|CODING|ENST00000447544|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|472|CD36|protein_coding|CODING|ENST00000432207|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T369P|462|CD36|protein_coding|CODING|ENST00000419819|9|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T309P|412|CD36|protein_coding|CODING|ENST00000538969|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aca/Cca|T330P|433|CD36|protein_coding|CODING|ENST00000433696|7|C),UTR_3_PRIME(MODIFIER||50||288|CD36|protein_coding|CODING|ENST00000544133|8|C),UPSTREAM(MODIFIER||1356||65|CD36|protein_coding|CODING|ENST00000488048||C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CD36|retained_intron|CODING|ENST00000464213|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 60296425 Proband 95 C T . . Gene=FOXB1;MT=SNP;MM=HR;CADD=22;VMM=0;EFF=UTR_5_PRIME(MODIFIER||738||325|FOXB1|protein_coding|CODING|ENST00000396057|1|T),UPSTREAM(MODIFIER||8|||FOXB1|processed_transcript|CODING|ENST00000560857||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152480164 Proband 95 C T . . Gene=ACTR3B;MT=SNP;MM=HR;CADD=18.23;VMM=0;EFF=INTRON(MODIFIER||||418|ACTR3B|protein_coding|CODING|ENST00000256001|1|T),INTRON(MODIFIER||||348|ACTR3B|protein_coding|CODING|ENST00000377776|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000397282|1|T),INTRON(MODIFIER||||330|ACTR3B|protein_coding|CODING|ENST00000537264|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 94761622 Proband 95 G A . . Gene=CCDC41;MT=SNP;MM=CM;CADD=25.5;VMM=33.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R431W|701|CCDC41|protein_coding|CODING|ENST00000339839|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R431W|701|CCDC41|protein_coding|CODING|ENST00000397809|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R398W|568|CCDC41|nonsense_mediated_decay|CODING|ENST00000547232|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R398W|568|CCDC41|protein_coding|CODING|ENST00000397807|10|A),DOWNSTREAM(MODIFIER||552||352|CCDC41|protein_coding|CODING|ENST00000547575||A),DOWNSTREAM(MODIFIER||2107|||CCDC41|processed_transcript|CODING|ENST00000549352||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 94818615 Proband 95 T C . . Gene=CCDC41;MT=SNP;MM=CM;CADD=12.19;VMM=33.96;EFF=INTRON(MODIFIER||||701|CCDC41|protein_coding|CODING|ENST00000339839|1|C),INTRON(MODIFIER||||701|CCDC41|protein_coding|CODING|ENST00000397809|2|C),INTRON(MODIFIER||||568|CCDC41|nonsense_mediated_decay|CODING|ENST00000547232|1|C),INTRON(MODIFIER||||568|CCDC41|protein_coding|CODING|ENST00000397807|1|C),INTRON(MODIFIER||||352|CCDC41|protein_coding|CODING|ENST00000547575|2|C),INTRON(MODIFIER||||1|CCDC41|protein_coding|CODING|ENST00000546527|3|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||RBMS2P1|processed_pseudogene|NON_CODING|ENST00000525031|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 130290069 Proband 95 C T . . Gene=COL6A6;MT=SNP;MM=CM;CADD=29.2;VMM=55.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R937W|2263|COL6A6|protein_coding|CODING|ENST00000358511|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R937W|2263|COL6A6|protein_coding|CODING|ENST00000453409|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 130384083 Proband 95 C A . . Gene=COL6A6;MT=SNP;MM=CM;CADD=15.9;VMM=55.6;EFF=INTRON(MODIFIER||||2263|COL6A6|protein_coding|CODING|ENST00000358511|35|A),INTRON(MODIFIER||||2263|COL6A6|protein_coding|CODING|ENST00000453409|35|A),INTRON(MODIFIER||||297|COL6A6|nonsense_mediated_decay|CODING|ENST00000506143|27|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140903810 Proband 95 C A . . Gene=DIAPH1;MT=SNP;MM=CM;CADD=18.69;VMM=34.79;EFF=DOWNSTREAM(MODIFIER||4301|||DIAPH1|processed_transcript|CODING|ENST00000491754||A),DOWNSTREAM(MODIFIER||4302|||DIAPH1|processed_transcript|CODING|ENST00000494967||A),DOWNSTREAM(MODIFIER||4557|||DIAPH1|processed_transcript|CODING|ENST00000518484||A),INTRON(MODIFIER||||1273|DIAPH1|protein_coding|CODING|ENST00000253811|26|A),INTRON(MODIFIER||||1269|DIAPH1|protein_coding|CODING|ENST00000389054|25|A),INTRON(MODIFIER||||1215|DIAPH1|protein_coding|CODING|ENST00000520569|23|A),INTRON(MODIFIER||||1263|DIAPH1|protein_coding|CODING|ENST00000389057|25|A),INTRON(MODIFIER||||1272|DIAPH1|protein_coding|CODING|ENST00000398557|26|A),INTRON(MODIFIER||||1248|DIAPH1|protein_coding|CODING|ENST00000398562|25|A),INTRON(MODIFIER||||1264|DIAPH1|protein_coding|CODING|ENST00000398566|25|A),INTRON(MODIFIER||||95|DIAPH1|protein_coding|CODING|ENST00000448451|1|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1260|DIAPH1|protein_coding|CODING|ENST00000518047|24|A),INTRON(MODIFIER|||||DIAPH1|processed_transcript|CODING|ENST00000468119|1|A),INTRON(MODIFIER||||863|DIAPH1|nonsense_mediated_decay|CODING|ENST00000521457|24|A),EXON(MODIFIER|||||DIAPH1|retained_intron|CODING|ENST00000476339|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140963623 Proband 95 CA C . . Gene=DIAPH1;MT=INDEL;MM=CM;CADD=16.39;VMM=34.79;EFF=UPSTREAM(MODIFIER||4878|||CTD-2024I7.1|processed_pseudogene|NON_CODING|ENST00000496103||C),UPSTREAM(MODIFIER||4928|||DIAPH1|retained_intron|CODING|ENST00000472516||C),INTRON(MODIFIER||||1273|DIAPH1|protein_coding|CODING|ENST00000253811|4|C),INTRON(MODIFIER||||1269|DIAPH1|protein_coding|CODING|ENST00000389054|4|C),INTRON(MODIFIER||||1215|DIAPH1|protein_coding|CODING|ENST00000520569|2|C),INTRON(MODIFIER||||1263|DIAPH1|protein_coding|CODING|ENST00000389057|3|C),INTRON(MODIFIER||||1272|DIAPH1|protein_coding|CODING|ENST00000398557|4|C),INTRON(MODIFIER||||1248|DIAPH1|protein_coding|CODING|ENST00000398562|3|C),INTRON(MODIFIER||||1264|DIAPH1|protein_coding|CODING|ENST00000398566|3|C),INTRON(MODIFIER||||1260|DIAPH1|protein_coding|CODING|ENST00000518047|3|C),INTRON(MODIFIER||||863|DIAPH1|nonsense_mediated_decay|CODING|ENST00000521457|3|C),INTRON(MODIFIER||||201|DIAPH1|nonsense_mediated_decay|CODING|ENST00000523100|4|C),INTRON(MODIFIER||||111|DIAPH1|protein_coding|CODING|ENST00000524301|3|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 161512446 Proband 95 T A . . Gene=MAP3K4;MT=SNP;MM=CM;CADD=15.46;VMM=33.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N1003K|1608|MAP3K4|protein_coding|CODING|ENST00000392142|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N1003K|1558|MAP3K4|protein_coding|CODING|ENST00000366919|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N1003K|1554|MAP3K4|protein_coding|CODING|ENST00000348824|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N1003K|1604|MAP3K4|protein_coding|CODING|ENST00000366920|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaA|N1003K|1442|MAP3K4|nonsense_mediated_decay|CODING|ENST00000544041|12|A),UTR_3_PRIME(MODIFIER||20701||636|MAP3K4|nonsense_mediated_decay|CODING|ENST00000490904|13|A),DOWNSTREAM(MODIFIER||4970|||MAP3K4|retained_intron|CODING|ENST00000542851||A),DOWNSTREAM(MODIFIER||4815|||MAP3K4|retained_intron|CODING|ENST00000540205||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 161530125 Proband 95 A G . . Gene=MAP3K4;MT=SNP;MM=CM;CADD=19.06;VMM=33.21;EFF=DOWNSTREAM(MODIFIER||160|||MAP3K4|retained_intron|CODING|ENST00000541901||G),DOWNSTREAM(MODIFIER||339|||MAP3K4|retained_intron|CODING|ENST00000544733||G),INTRON(MODIFIER||||1608|MAP3K4|protein_coding|CODING|ENST00000392142|22|G),INTRON(MODIFIER||||1558|MAP3K4|protein_coding|CODING|ENST00000366919|21|G),INTRON(MODIFIER||||1554|MAP3K4|protein_coding|CODING|ENST00000348824|21|G),INTRON(MODIFIER||||1604|MAP3K4|protein_coding|CODING|ENST00000366920|22|G),INTRON(MODIFIER||||636|MAP3K4|nonsense_mediated_decay|CODING|ENST00000490904|23|G),INTRON(MODIFIER||||1442|MAP3K4|nonsense_mediated_decay|CODING|ENST00000544041|23|G),INTRON(MODIFIER|||||MAP3K4|retained_intron|CODING|ENST00000536852|5|G),INTRON(MODIFIER|||||MAP3K4|retained_intron|CODING|ENST00000539610|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 6495461 Proband 96 T A . . Gene=TUBB4A;MT=SNP;MM=DN;CADD=25.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K350M|444|TUBB4A|protein_coding|CODING|ENST00000264071|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K350M|444|TUBB4A|protein_coding|CODING|ENST00000540257|4|A),DOWNSTREAM(MODIFIER||645|||CTD-2396E7.9|antisense|NON_CODING|ENST00000599292||A),DOWNSTREAM(MODIFIER||425|||CTD-2396E7.10|antisense|NON_CODING|ENST00000596027||A),DOWNSTREAM(MODIFIER||272||154|TUBB4A|protein_coding|CODING|ENST00000594276||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||357||159|TUBB4A|protein_coding|CODING|ENST00000594075||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||358||143|TUBB4A|protein_coding|CODING|ENST00000600216||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||455||109|TUBB4A|nonsense_mediated_decay|CODING|ENST00000595324||A),DOWNSTREAM(MODIFIER||509||93|TUBB4A|protein_coding|CODING|ENST00000601152||A),DOWNSTREAM(MODIFIER||566||104|TUBB4A|protein_coding|CODING|ENST00000598006||A),DOWNSTREAM(MODIFIER||611||73|TUBB4A|protein_coding|CODING|ENST00000596291||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||681||166|TUBB4A|protein_coding|CODING|ENST00000597686||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||692||110|TUBB4A|protein_coding|CODING|ENST00000596926||A),DOWNSTREAM(MODIFIER||720||103|TUBB4A|nonsense_mediated_decay|CODING|ENST00000594290||A),DOWNSTREAM(MODIFIER||726||106|TUBB4A|protein_coding|CODING|ENST00000601640||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||729||156|TUBB4A|protein_coding|CODING|ENST00000598635||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 123171601 Proband 96 C T . . Gene=KIAA1109;MT=SNP;MM=DN;CADD=21.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1932I|5005|KIAA1109|protein_coding|CODING|ENST00000264501|37|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1932I|3680|KIAA1109|protein_coding|CODING|ENST00000455637|35|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1932I|5005|KIAA1109|protein_coding|CODING|ENST00000388738|35|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T504I|1446|KIAA1109|protein_coding|CODING|ENST00000446180|9|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4413||1637|KIAA1109|protein_coding|CODING|ENST00000419325||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2758|||KIAA1109|retained_intron|CODING|ENST00000470182||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 17919900 Proband 96 G T . . Gene=ASAH1;MT=SNP;MM=DN;CADD=26.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T195N|411|ASAH1|protein_coding|CODING|ENST00000381733|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T179N|395|ASAH1|protein_coding|CODING|ENST00000262097|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T89N|305|ASAH1|protein_coding|CODING|ENST00000417108|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T154N|370|ASAH1|protein_coding|CODING|ENST00000520781|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|T173N|389|ASAH1|protein_coding|CODING|ENST00000314146|8|T),UPSTREAM(MODIFIER||517|||ASAH1|retained_intron|CODING|ENST00000521542||T),UPSTREAM(MODIFIER||186|||ASAH1|retained_intron|CODING|ENST00000518746||T),DOWNSTREAM(MODIFIER||792|||ASAH1|retained_intron|CODING|ENST00000523744||T),DOWNSTREAM(MODIFIER||4372|||ASAH1|retained_intron|CODING|ENST00000518087||T),INTRON(MODIFIER|||||ASAH1|processed_transcript|CODING|ENST00000519468|5|T),EXON(MODIFIER|||||ASAH1|processed_transcript|CODING|ENST00000523593|6|T),EXON(MODIFIER|||||ASAH1|processed_transcript|CODING|ENST00000519545|8|T),EXON(MODIFIER|||||ASAH1|retained_intron|CODING|ENST00000517409|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 68516583 Proband 96 C T . . Gene=GNG12-AS1;MT=SNP;MM=CM;CADD=21.3;VMM=36.19;EFF=UTR_5_PRIME(MODIFIER||3603||229|DIRAS3|protein_coding|CODING|ENST00000370981|2|T),UPSTREAM(MODIFIER||1155|||ARL5AP3|processed_pseudogene|NON_CODING|ENST00000439327||T),UPSTREAM(MODIFIER||123||229|DIRAS3|protein_coding|CODING|ENST00000395201||T),INTRON(MODIFIER|||||GNG12-AS1|antisense|NON_CODING|ENST00000420587|2|T),INTRON(MODIFIER|||||GNG12-AS1|antisense|NON_CODING|ENST00000413628|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 68626813 Proband 96 CT C . . Gene=GNG12-AS1;MT=INDEL;MM=CM;CADD=14.99;VMM=36.19;EFF=DOWNSTREAM(MODIFIER||630|||CTBP2P8|processed_pseudogene|NON_CODING|ENST00000422584||C),INTRON(MODIFIER|||||GNG12-AS1|antisense|NON_CODING|ENST00000420587|9|C),INTRON(MODIFIER||||545|WLS|protein_coding|CODING|ENST00000540432|2|C),INTRON(MODIFIER|||||GNG12-AS1|antisense|NON_CODING|ENST00000413628|8|C),INTRON(MODIFIER||||543|WLS|protein_coding|CODING|ENST00000354777|2|C),INTRON(MODIFIER||||541|WLS|protein_coding|CODING|ENST00000262348|2|C),INTRON(MODIFIER||||450|WLS|protein_coding|CODING|ENST00000370976|1|C),INTRON(MODIFIER|||||WLS|processed_transcript|CODING|ENST00000497187|1|C),INTRON(MODIFIER||||198|WLS|protein_coding|CODING|ENST00000534713|1|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||133|WLS|protein_coding|CODING|ENST00000533537|1|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||221|WLS|protein_coding|CODING|ENST00000530486|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||121|WLS|protein_coding|CODING|ENST00000370973|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||151|WLS|protein_coding|CODING|ENST00000471243|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||38|WLS|nonsense_mediated_decay|CODING|ENST00000491076|3|C),INTRON(MODIFIER||||151|WLS|nonsense_mediated_decay|CODING|ENST00000527864|3|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 89861399 Proband 96 A G . . Gene=POLG;MT=SNP;MM=CM;CADD=10.95;VMM=39.57;EFF=UPSTREAM(MODIFIER||340|||POLG|retained_intron|CODING|ENST00000526671||G),DOWNSTREAM(MODIFIER||1039||1328|FANCI|protein_coding|CODING|ENST00000310775||G),DOWNSTREAM(MODIFIER||907||1268|FANCI|protein_coding|CODING|ENST00000300027||G),DOWNSTREAM(MODIFIER||1687||1095|FANCI|nonsense_mediated_decay|CODING|ENST00000447611||G),DOWNSTREAM(MODIFIER||3522|||FANCI|processed_transcript|CODING|ENST00000565522||G),DOWNSTREAM(MODIFIER||1724||1088|FANCI|protein_coding|CODING|ENST00000561894||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1040|||FANCI|retained_intron|CODING|ENST00000566895||G),DOWNSTREAM(MODIFIER||1742|||FANCI|processed_transcript|CODING|ENST00000566615||G),DOWNSTREAM(MODIFIER||1100||68|POLG|nonsense_mediated_decay|CODING|ENST00000530715||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2652||68|POLG|nonsense_mediated_decay|CODING|ENST00000528881||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3607|||POLG|retained_intron|CODING|ENST00000532584||G),DOWNSTREAM(MODIFIER||4574||227|POLG|protein_coding|CODING|ENST00000526314||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4637||50|POLG|nonsense_mediated_decay|CODING|ENST00000526398||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1239|POLG|protein_coding|CODING|ENST00000268124|21|G),INTRON(MODIFIER||||1239|POLG|protein_coding|CODING|ENST00000442287|21|G),INTRON(MODIFIER||||196|POLG|nonsense_mediated_decay|CODING|ENST00000530292|4|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 89873343 Proband 96 C T . . Gene=POLG;MT=SNP;MM=CM;CADD=34;VMM=39.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R275Q|1239|POLG|protein_coding|CODING|ENST00000268124|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R275Q|1239|POLG|protein_coding|CODING|ENST00000442287|3|T),UPSTREAM(MODIFIER||4941|||RP11-217B1.2|antisense|NON_CODING|ENST00000569473||T),UPSTREAM(MODIFIER||4512|||POLG|retained_intron|CODING|ENST00000532584||T),UPSTREAM(MODIFIER||3421||227|POLG|protein_coding|CODING|ENST00000526314||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4525||50|POLG|nonsense_mediated_decay|CODING|ENST00000526398||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4628|||POLG|retained_intron|CODING|ENST00000526573||T),UPSTREAM(MODIFIER||1414|||POLG|retained_intron|CODING|ENST00000532363||T),DOWNSTREAM(MODIFIER||2217|||POLG|processed_transcript|CODING|ENST00000525806||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36886021 Proband 96 G A . . Gene=MLLT6;MT=SNP;MM=CM;CADD=22.4;VMM=58.91;EFF=UTR_3_PRIME(MODIFIER||4170||1093|MLLT6|protein_coding|CODING|ENST00000325718|20|A),UPSTREAM(MODIFIER||1570||121|AC006449.1|protein_coding|CODING|ENST00000595377||A),UPSTREAM(MODIFIER||467||127|CISD3|protein_coding|CODING|ENST00000439660||A),UPSTREAM(MODIFIER||591|||CISD3|processed_transcript|CODING|ENST00000578573||A),UPSTREAM(MODIFIER||1339|||CISD3|retained_intron|CODING|ENST00000581668||A),DOWNSTREAM(MODIFIER||2034|||RNA5SP440|rRNA|NON_CODING|ENST00000363245||A),DOWNSTREAM(MODIFIER||4129||344|PCGF2|protein_coding|CODING|ENST00000360797||A),DOWNSTREAM(MODIFIER||2576|||MLLT6|retained_intron|CODING|ENST00000494578||A),DOWNSTREAM(MODIFIER||2576|||MLLT6|retained_intron|CODING|ENST00000484263||A),DOWNSTREAM(MODIFIER||2597|||MLLT6|processed_transcript|CODING|ENST00000582830||A),DOWNSTREAM(MODIFIER||4130||344|PCGF2|protein_coding|CODING|ENST00000580830||A),DOWNSTREAM(MODIFIER||4132||65|PCGF2|protein_coding|CODING|ENST00000578487||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4512||344|PCGF2|protein_coding|CODING|ENST00000581345||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36886025 Proband 96 G T . . Gene=MLLT6;MT=SNP;MM=CM;CADD=21.2;VMM=58.91;EFF=UTR_3_PRIME(MODIFIER||4174||1093|MLLT6|protein_coding|CODING|ENST00000325718|20|T),UPSTREAM(MODIFIER||1574||121|AC006449.1|protein_coding|CODING|ENST00000595377||T),UPSTREAM(MODIFIER||463||127|CISD3|protein_coding|CODING|ENST00000439660||T),UPSTREAM(MODIFIER||587|||CISD3|processed_transcript|CODING|ENST00000578573||T),UPSTREAM(MODIFIER||1335|||CISD3|retained_intron|CODING|ENST00000581668||T),DOWNSTREAM(MODIFIER||2030|||RNA5SP440|rRNA|NON_CODING|ENST00000363245||T),DOWNSTREAM(MODIFIER||4125||344|PCGF2|protein_coding|CODING|ENST00000360797||T),DOWNSTREAM(MODIFIER||2580|||MLLT6|retained_intron|CODING|ENST00000494578||T),DOWNSTREAM(MODIFIER||2580|||MLLT6|retained_intron|CODING|ENST00000484263||T),DOWNSTREAM(MODIFIER||2601|||MLLT6|processed_transcript|CODING|ENST00000582830||T),DOWNSTREAM(MODIFIER||4126||344|PCGF2|protein_coding|CODING|ENST00000580830||T),DOWNSTREAM(MODIFIER||4128||65|PCGF2|protein_coding|CODING|ENST00000578487||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4508||344|PCGF2|protein_coding|CODING|ENST00000581345||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 227660895 Proband 96 G A . . Gene=IRS1;MT=SNP;MM=CM;CADD=29.7;VMM=103.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R854C|1242|IRS1|protein_coding|CODING|ENST00000305123|1|A),UPSTREAM(MODIFIER||3967|||RP11-395N3.2|lincRNA|NON_CODING|ENST00000607970||A),UPSTREAM(MODIFIER||933|||IRS1|processed_transcript|CODING|ENST00000498335||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 227662565 Proband 96 A C . . Gene=IRS1;MT=SNP;MM=CM;CADD=24.8;VMM=103.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V297G|1242|IRS1|protein_coding|CODING|ENST00000305123|1|C),UPSTREAM(MODIFIER||2297|||RP11-395N3.2|lincRNA|NON_CODING|ENST00000607970||C),UPSTREAM(MODIFIER||2603|||IRS1|processed_transcript|CODING|ENST00000498335||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 17868715 Proband 96 C T . . Gene=LCORL;MT=SNP;MM=CM;CADD=20.8;VMM=49.41;EFF=INTRON(MODIFIER||||318|LCORL|protein_coding|CODING|ENST00000326877|6|T),INTRON(MODIFIER||||79|LCORL|nonsense_mediated_decay|CODING|ENST00000510451|4|T),INTRON(MODIFIER||||144|LCORL|protein_coding|CODING|ENST00000539056|4|T),INTRON(MODIFIER|||||LCORL|processed_transcript|CODING|ENST00000510121|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 17887707 Proband 96 CAGA C . . Gene=LCORL;MT=INDEL;MM=CM;CADD=19.79;VMM=49.41;EFF=CODON_DELETION(MODERATE||tct/|S253|602|LCORL|protein_coding|CODING|ENST00000382226|6|C),CODON_DELETION(MODERATE||tct/|S253|318|LCORL|protein_coding|CODING|ENST00000326877|6|C),CODON_DELETION(MODERATE||tct/|S169|518|LCORL|protein_coding|CODING|ENST00000382224|6|C),INTRON(MODIFIER||||79|LCORL|nonsense_mediated_decay|CODING|ENST00000510451|4|C),INTRON(MODIFIER||||144|LCORL|protein_coding|CODING|ENST00000539056|4|C),EXON(MODIFIER|||||LCORL|processed_transcript|CODING|ENST00000510121|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 148854066 Proband 96 C T . . Gene=SASH1;MT=SNP;MM=CM;CADD=17.76;VMM=79.94;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T566|1247|SASH1|protein_coding|CODING|ENST00000367467|14|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 148867157 Proband 96 C T . . Gene=SASH1;MT=SNP;MM=CM;CADD=35;VMM=79.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1119C|1247|SASH1|protein_coding|CODING|ENST00000367467|19|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 53076592 Proband 96 G T . . Gene=ST18;MT=SNP;MM=CM;CADD=24.1;VMM=36.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q452K|1047|ST18|protein_coding|CODING|ENST00000276480|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q452K|619|ST18|protein_coding|CODING|ENST00000517580|13|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||8540||94|ST18|nonsense_mediated_decay|CODING|ENST00000521824|8|T),UTR_3_PRIME(MODIFIER||46046||41|ST18|nonsense_mediated_decay|CODING|ENST00000522251|9|T),UTR_3_PRIME(MODIFIER||7566||364|ST18|nonsense_mediated_decay|CODING|ENST00000521582|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 53161201 Proband 96 C T . . Gene=ST18;MT=SNP;MM=CM;CADD=13.42;VMM=36.12;EFF=UPSTREAM(MODIFIER||1977|||ST18|processed_transcript|CODING|ENST00000518037||T),UPSTREAM(MODIFIER||1977|||ST18|processed_transcript|CODING|ENST00000517456||T),UPSTREAM(MODIFIER||115||11|ST18|protein_coding|CODING|ENST00000519118||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1047|ST18|protein_coding|CODING|ENST00000276480|2|T),INTRON(MODIFIER||||619|ST18|protein_coding|CODING|ENST00000517580|2|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ST18|processed_transcript|CODING|ENST00000521549|2|T),INTRON(MODIFIER|||||ST18|processed_transcript|CODING|ENST00000518545|1|T),INTRON(MODIFIER|||||ST18|retained_intron|CODING|ENST00000521119|1|T),INTRON(MODIFIER|||||ST18|retained_intron|CODING|ENST00000520279|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 69602442 Proband 97 C A . . Gene=NFAT5;MT=SNP;MM=CM;CADD=23.9;VMM=34.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L40I|1549|NFAT5|protein_coding|CODING|ENST00000432919|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L40I|99|NFAT5|nonsense_mediated_decay|CODING|ENST00000426654|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L40I|119|NFAT5|nonsense_mediated_decay|CODING|ENST00000567990|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cta/Ata|L40I|1548|NFAT5|protein_coding|CODING|ENST00000567239|2|A),UTR_5_PRIME(MODIFIER||78518||1455|NFAT5|protein_coding|CODING|ENST00000349945|2|A),UPSTREAM(MODIFIER||2671|||MIR1538|miRNA|NON_CODING|ENST00000411177||A),INTRON(MODIFIER||||1531|NFAT5|protein_coding|CODING|ENST00000354436|1|A),INTRON(MODIFIER||||1455|NFAT5|protein_coding|CODING|ENST00000393742|1|A),INTRON(MODIFIER||||1455|NFAT5|protein_coding|CODING|ENST00000566899|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 69680627 Proband 97 C A . . Gene=NFAT5;MT=SNP;MM=CM;CADD=13.11;VMM=34.77;EFF=UPSTREAM(MODIFIER||408||141|NFAT5|protein_coding|CODING|ENST00000565301||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1549|NFAT5|protein_coding|CODING|ENST00000432919|3|A),INTRON(MODIFIER||||1455|NFAT5|protein_coding|CODING|ENST00000349945|4|A),INTRON(MODIFIER||||99|NFAT5|nonsense_mediated_decay|CODING|ENST00000426654|4|A),INTRON(MODIFIER||||1531|NFAT5|protein_coding|CODING|ENST00000354436|2|A),INTRON(MODIFIER||||119|NFAT5|nonsense_mediated_decay|CODING|ENST00000567990|5|A),INTRON(MODIFIER||||1548|NFAT5|protein_coding|CODING|ENST00000567239|3|A),INTRON(MODIFIER||||1455|NFAT5|protein_coding|CODING|ENST00000393742|3|A),INTRON(MODIFIER||||1455|NFAT5|protein_coding|CODING|ENST00000566899|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 77085401 Proband 97 G A . . Gene=RBFOX3;MT=SNP;MM=CM;CADD=13.46;VMM=35.61;EFF=DOWNSTREAM(MODIFIER||2623||743|ENGASE|protein_coding|CODING|ENST00000579016||A),DOWNSTREAM(MODIFIER||26||358|RBFOX3|protein_coding|CODING|ENST00000583458||A),DOWNSTREAM(MODIFIER||720||182|ENGASE|nonsense_mediated_decay|CODING|ENST00000300682||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4753|||ENGASE|processed_transcript|CODING|ENST00000584568||A),DOWNSTREAM(MODIFIER||2623|||ENGASE|retained_intron|CODING|ENST00000579809||A),DOWNSTREAM(MODIFIER||3469|||ENGASE|processed_transcript|CODING|ENST00000585160||A),DOWNSTREAM(MODIFIER||27||312|RBFOX3|protein_coding|CODING|ENST00000415831||A),DOWNSTREAM(MODIFIER||1481||328|RBFOX3|protein_coding|CODING|ENST00000582043||A),DOWNSTREAM(MODIFIER||1497|||RBFOX3|retained_intron|CODING|ENST00000581393||A),DOWNSTREAM(MODIFIER||1497||312|RBFOX3|protein_coding|CODING|ENST00000580155||A),DOWNSTREAM(MODIFIER||1497||312|RBFOX3|protein_coding|CODING|ENST00000453134||A),DOWNSTREAM(MODIFIER||1528|||RBFOX3|retained_intron|CODING|ENST00000578998||A),DOWNSTREAM(MODIFIER||2628||74|RBFOX3|protein_coding|CODING|ENST00000582880||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3061||130|RBFOX3|protein_coding|CODING|ENST00000582894||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4938||325|RBFOX3|protein_coding|CODING|ENST00000584778||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 77111776 Proband 97 C G . . Gene=RBFOX3;MT=SNP;MM=CM;CADD=23.7;VMM=35.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|358|RBFOX3|protein_coding|CODING|ENST00000583458|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|312|RBFOX3|protein_coding|CODING|ENST00000415831|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|328|RBFOX3|protein_coding|CODING|ENST00000582043|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|312|RBFOX3|protein_coding|CODING|ENST00000580155|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|312|RBFOX3|protein_coding|CODING|ENST00000453134|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Ccc|A8P|325|RBFOX3|protein_coding|CODING|ENST00000584778|5|G),DOWNSTREAM(MODIFIER||4||51|RBFOX3|protein_coding|CODING|ENST00000580508||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||9||3|RBFOX3|protein_coding|CODING|ENST00000582139||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 97779619 Proband 97 T C . . Gene=ANKRD36;MT=SNP;MM=CM;CADD=22.4;VMM=58.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L48P|1941|ANKRD36|protein_coding|CODING|ENST00000420699|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L48P|1941|ANKRD36|protein_coding|CODING|ENST00000461153|1|C),EXON(MODIFIER|||||ANKRD36|retained_intron|CODING|ENST00000452478|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 97884812 Proband 97 GA G . . Gene=ANKRD36;MT=INDEL;MM=CM;CADD=21.2;VMM=58.91;EFF=FRAME_SHIFT(HIGH||aag/|K1294|1941|ANKRD36|protein_coding|CODING|ENST00000420699|65|G),FRAME_SHIFT(HIGH||aag/|K1294|1941|ANKRD36|protein_coding|CODING|ENST00000461153|65|G),SPLICE_SITE_REGION+EXON(LOW|||||ANKRD36|retained_intron|CODING|ENST00000421946|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 128322889 Proband 97 C T . . Gene=MYO7B;MT=SNP;MM=CM;CADD=24.8;VMM=87.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R72C|2117|MYO7B|protein_coding|CODING|ENST00000389524|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R72C|2116|MYO7B|protein_coding|CODING|ENST00000428314|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R72C|2116|MYO7B|protein_coding|CODING|ENST00000409816|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 128388833 Proband 97 C T . . Gene=MYO7B;MT=SNP;MM=CM;CADD=26;VMM=87.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1638C|2117|MYO7B|protein_coding|CODING|ENST00000389524|36|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1638C|2116|MYO7B|protein_coding|CODING|ENST00000428314|36|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R1638C|2116|MYO7B|protein_coding|CODING|ENST00000409816|35|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R491C|969|MYO7B|protein_coding|CODING|ENST00000409090|12|T),UPSTREAM(MODIFIER||4410|||RP11-286H15.1|antisense|NON_CODING|ENST00000609697||T),UPSTREAM(MODIFIER||2968|||MYO7B|retained_intron|CODING|ENST00000494959||T),EXON(MODIFIER|||||MYO7B|retained_intron|CODING|ENST00000496841|11|T),EXON(MODIFIER|||||MYO7B|retained_intron|CODING|ENST00000491278|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 19665876 Proband 97 C T . . Gene=SLC24A3;MT=SNP;MM=CM;CADD=32;VMM=66.85;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R399W|644|SLC24A3|protein_coding|CODING|ENST00000328041|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 19702858 Proband 97 T A . . Gene=SLC24A3;MT=SNP;MM=CM;CADD=16.85;VMM=66.85;EFF=UTR_3_PRIME(MODIFIER||1074||644|SLC24A3|protein_coding|CODING|ENST00000328041|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 124281801 Proband 97 G A . . Gene=KALRN;MT=SNP;MM=CM;CADD=33;VMM=33.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1681K|2986|KALRN|protein_coding|CODING|ENST00000360013|34|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1649K|2954|KALRN|protein_coding|CODING|ENST00000354186|33|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E54K|738|KALRN|protein_coding|CODING|ENST00000393496|2|A),EXON(MODIFIER|||||KALRN|retained_intron|CODING|ENST00000471431|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 124438188 Proband 97 C T . . Gene=KALRN;MT=SNP;MM=CM;CADD=9.899;VMM=33.54;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S2944|2986|KALRN|protein_coding|CODING|ENST00000360013|60|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S2912|2954|KALRN|protein_coding|CODING|ENST00000354186|59|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1247|1289|KALRN|protein_coding|CODING|ENST00000291478|27|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1215|1257|KALRN|protein_coding|CODING|ENST00000428018|26|T),UPSTREAM(MODIFIER||4447|||RP11-71H17.7|sense_overlapping|NON_CODING|ENST00000568966||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 32954831 Sibling 1A A T . . Gene=QSER1;MT=SNP;MM=CM;CADD=20.8;VMM=31.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E547V|1735|QSER1|protein_coding|CODING|ENST00000399302|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gTa|E308V|1529|QSER1|protein_coding|CODING|ENST00000527788|5|T),UPSTREAM(MODIFIER||1299||779|QSER1|protein_coding|CODING|ENST00000524678||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1283|||QSER1|processed_transcript|CODING|ENST00000527250||T),DOWNSTREAM(MODIFIER||1448||63|QSER1|protein_coding|CODING|ENST00000528155||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 32956699 Sibling 1A G T . . Gene=QSER1;MT=SNP;MM=CM;CADD=13.49;VMM=31.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V1170L|1735|QSER1|protein_coding|CODING|ENST00000399302|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V931L|1529|QSER1|protein_coding|CODING|ENST00000527788|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Tta|V190L|779|QSER1|protein_coding|CODING|ENST00000524678|1|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3151|||QSER1|processed_transcript|CODING|ENST00000527250||T),DOWNSTREAM(MODIFIER||3316||63|QSER1|protein_coding|CODING|ENST00000528155||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 54997701 Sibling 1B G A . . Gene=CGRRF1;MT=SNP;MM=DN;CADD=28.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R168K|332|CGRRF1|protein_coding|CODING|ENST00000216420|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R200K|203|CGRRF1|protein_coding|CODING|ENST00000557317|5|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||904||44|CGRRF1|nonsense_mediated_decay|CODING|ENST00000557755|3|A),INTRON(MODIFIER||||91|CGRRF1|nonsense_mediated_decay|CODING|ENST00000554791|2|A),EXON(MODIFIER|||||CGRRF1|retained_intron|CODING|ENST00000556216|4|A),EXON(MODIFIER|||||CGRRF1|processed_transcript|CODING|ENST00000557512|4|A),EXON(MODIFIER|||||CGRRF1|processed_transcript|CODING|ENST00000557184|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33789459 Sibling 1B T TG . . Gene=PHC2;MT=INDEL;MM=CM;CADD=13.62;VMM=37.78;EFF=UTR_3_PRIME(MODIFIER||1006||829|PHC2|protein_coding|CODING|ENST00000431992|13|TG),UTR_3_PRIME(MODIFIER||1006||323|PHC2|protein_coding|CODING|ENST00000373418|7|TG),UTR_3_PRIME(MODIFIER||1006||464|PHC2|protein_coding|CODING|ENST00000373422|8|TG),UTR_3_PRIME(MODIFIER||1006||858|PHC2|protein_coding|CODING|ENST00000257118|14|TG),UPSTREAM(MODIFIER||2761||340|A3GALT2|protein_coding|CODING|ENST00000442999||TG),DOWNSTREAM(MODIFIER||715||859|PHC2|protein_coding|CODING|ENST00000419414||TG),DOWNSTREAM(MODIFIER||830|||PHC2|processed_transcript|CODING|ENST00000467894||TG),DOWNSTREAM(MODIFIER||1966||317|PHC2|protein_coding|CODING|ENST00000373416||TG),INTRON(MODIFIER|||||RP11-415J8.3|antisense|NON_CODING|ENST00000587696|1|TG),INTRON(MODIFIER|||||RP11-415J8.3|antisense|NON_CODING|ENST00000588828|1|TG),INTRON(MODIFIER|||||RP11-415J8.3|antisense|NON_CODING|ENST00000457957|2|TG),EXON(MODIFIER|||||PHC2|processed_transcript|CODING|ENST00000485928|8|TG) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33820632 Sibling 1B G A . . Gene=PHC2;MT=SNP;MM=CM;CADD=24.7;VMM=37.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P400L|859|PHC2|protein_coding|CODING|ENST00000419414|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P371L|829|PHC2|protein_coding|CODING|ENST00000431992|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P5L|464|PHC2|protein_coding|CODING|ENST00000373422|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P400L|858|PHC2|protein_coding|CODING|ENST00000257118|7|A),START_GAINED(LOW||||317|PHC2|protein_coding|CODING|ENST00000373416|7|A),UTR_5_PRIME(MODIFIER||20789||317|PHC2|protein_coding|CODING|ENST00000373416|7|A),UPSTREAM(MODIFIER||128|||PHC2|processed_transcript|CODING|ENST00000459964||A),INTRON(MODIFIER|||||RP11-415J8.5|antisense|NON_CODING|ENST00000432703|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 101551877 Sibling 1B G A . . Gene=ABCC2;MT=SNP;MM=CM;CADD=17.62;VMM=92.64;EFF=UPSTREAM(MODIFIER||2710|||NANOGP6|processed_pseudogene|NON_CODING|ENST00000429190||A),UPSTREAM(MODIFIER||169|||ABCC2|processed_transcript|CODING|ENST00000496621||A),INTRON(MODIFIER||||1545|ABCC2|protein_coding|CODING|ENST00000370449|2|A),INTRON(MODIFIER||||293|ABCC2|protein_coding|CODING|ENST00000370434|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 101591826 Sibling 1B C T . . Gene=ABCC2;MT=SNP;MM=CM;CADD=40;VMM=92.64;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1066*|1545|ABCC2|protein_coding|CODING|ENST00000370449|23|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 115365389 Sibling 1B A G . . Gene=NRAP;MT=SNP;MM=CM;CADD=17.07;VMM=34.64;EFF=INTRON(MODIFIER||||1738|NRAP|protein_coding|CODING|ENST00000369358|34|G),INTRON(MODIFIER||||1703|NRAP|protein_coding|CODING|ENST00000369360|33|G),INTRON(MODIFIER||||1695|NRAP|protein_coding|CODING|ENST00000360478|33|G),INTRON(MODIFIER||||1730|NRAP|protein_coding|CODING|ENST00000359988|34|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 115372140 Sibling 1B C T . . Gene=NRAP;MT=SNP;MM=CM;CADD=17.86;VMM=34.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1125|1738|NRAP|protein_coding|CODING|ENST00000369358|30|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1090|1703|NRAP|protein_coding|CODING|ENST00000369360|29|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1082|1695|NRAP|protein_coding|CODING|ENST00000360478|29|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P1117|1730|NRAP|protein_coding|CODING|ENST00000359988|30|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 5624620 Sibling 1B GAGCATAGAC G . . Gene=TRIM6;MT=INDEL;MM=CM;CADD=22.3;VMM=98.59;EFF=CODON_DELETION(MODERATE||agcatagac/|SID55|516|TRIM6|protein_coding|CODING|ENST00000380097|2|G),CODON_DELETION(MODERATE||agcatagac/|SID55|842|TRIM6-TRIM34|protein_coding|CODING|ENST00000354852|2|G),CODON_DELETION(MODERATE||agcatagac/|SID27|488|TRIM6|protein_coding|CODING|ENST00000278302|2|G),CODON_DELETION(MODERATE||agcatagac/|SID27|462|TRIM6|protein_coding|CODING|ENST00000380107|2|G),UPSTREAM(MODIFIER||1781|||TRIM6|retained_intron|CODING|ENST00000469187||G),UPSTREAM(MODIFIER||2158|||TRIM6|processed_transcript|CODING|ENST00000481603||G),INTRON(MODIFIER|||||AC015691.13|antisense|NON_CODING|ENST00000394793|1|G),INTRON(MODIFIER||||147|HBG2|protein_coding|CODING|ENST00000380259|2|G),INTRON(MODIFIER||||97|TRIM6|protein_coding|CODING|ENST00000424369|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||313|TRIM6|protein_coding|CODING|ENST00000507320|1|G),INTRON(MODIFIER|||||TRIM6|processed_transcript|CODING|ENST00000511284|1|G),INTRON(MODIFIER||||313|TRIM6|protein_coding|CODING|ENST00000445329|1|G),INTRON(MODIFIER||||313|TRIM6|protein_coding|CODING|ENST00000515022|1|G),INTRON(MODIFIER||||313|TRIM6|protein_coding|CODING|ENST00000506134|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 5632311 Sibling 1B G T . . Gene=TRIM6;MT=SNP;MM=CM;CADD=32;VMM=98.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W430C|516|TRIM6|protein_coding|CODING|ENST00000380097|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W402C|488|TRIM6|protein_coding|CODING|ENST00000278302|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W227C|313|TRIM6|protein_coding|CODING|ENST00000507320|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W376C|462|TRIM6|protein_coding|CODING|ENST00000380107|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W227C|313|TRIM6|protein_coding|CODING|ENST00000445329|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W227C|313|TRIM6|protein_coding|CODING|ENST00000515022|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W227C|313|TRIM6|protein_coding|CODING|ENST00000506134|7|T),DOWNSTREAM(MODIFIER||891||97|TRIM6|protein_coding|CODING|ENST00000424369||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||AC015691.13|antisense|NON_CODING|ENST00000394793|1|T),INTRON(MODIFIER||||842|TRIM6-TRIM34|protein_coding|CODING|ENST00000354852|7|T),INTRON(MODIFIER||||147|HBG2|protein_coding|CODING|ENST00000380259|2|T),EXON(MODIFIER|||||TRIM6|processed_transcript|CODING|ENST00000511284|5|T),EXON(MODIFIER|||||TRIM6|retained_intron|CODING|ENST00000469187|5|T),EXON(MODIFIER|||||TRIM6|processed_transcript|CODING|ENST00000481603|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 72818576 Sibling 1B A G . . Gene=ZFHX3;MT=SNP;MM=CM;CADD=12.73;VMM=34.11;EFF=UTR_3_PRIME(MODIFIER||2487||3703|ZFHX3|protein_coding|CODING|ENST00000268489|10|G),UTR_3_PRIME(MODIFIER||2487||2789|ZFHX3|protein_coding|CODING|ENST00000397992|9|G),UPSTREAM(MODIFIER||4566|||RP5-991G20.4|antisense|NON_CODING|ENST00000569195||G),DOWNSTREAM(MODIFIER||3016|||AC004943.1|miRNA|NON_CODING|ENST00000584072||G),INTRON(MODIFIER|||||RP5-991G20.1|antisense|NON_CODING|ENST00000563328|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 72829454 Sibling 1B G A . . Gene=ZFHX3;MT=SNP;MM=CM;CADD=24.3;VMM=34.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T2376M|3703|ZFHX3|protein_coding|CODING|ENST00000268489|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1462M|2789|ZFHX3|protein_coding|CODING|ENST00000397992|8|A),DOWNSTREAM(MODIFIER||3932|||RP5-991G20.4|antisense|NON_CODING|ENST00000569195||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 37602837 Sibling 1B G A . . Gene=SSTR3;MT=SNP;MM=CM;CADD=14.96;VMM=56.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R336C|418|SSTR3|protein_coding|CODING|ENST00000328544|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R336C|418|SSTR3|protein_coding|CODING|ENST00000402501|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 37603494 Sibling 1B G T . . Gene=SSTR3;MT=SNP;MM=CM;CADD=32;VMM=56.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R117S|418|SSTR3|protein_coding|CODING|ENST00000328544|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R117S|418|SSTR3|protein_coding|CODING|ENST00000402501|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 129293289 Sibling 1B A C . . Gene=PLXND1;MT=SNP;MM=CM;CADD=25.1;VMM=46.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C859G|1925|PLXND1|protein_coding|CODING|ENST00000324093|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C859G|1785|PLXND1|protein_coding|CODING|ENST00000393239|12|C),UPSTREAM(MODIFIER||3242|||PLXND1|retained_intron|CODING|ENST00000514990||C),UPSTREAM(MODIFIER||2723|||PLXND1|retained_intron|CODING|ENST00000504767||C),UPSTREAM(MODIFIER||2588|||PLXND1|retained_intron|CODING|ENST00000511018||C),UPSTREAM(MODIFIER||1464|||PLXND1|retained_intron|CODING|ENST00000515191||C),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000505505|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 129294350 Sibling 1B C T . . Gene=PLXND1;MT=SNP;MM=CM;CADD=15.84;VMM=46.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R831Q|1925|PLXND1|protein_coding|CODING|ENST00000324093|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R831Q|1785|PLXND1|protein_coding|CODING|ENST00000393239|11|T),UPSTREAM(MODIFIER||4303|||PLXND1|retained_intron|CODING|ENST00000514990||T),UPSTREAM(MODIFIER||3784|||PLXND1|retained_intron|CODING|ENST00000504767||T),UPSTREAM(MODIFIER||3649|||PLXND1|retained_intron|CODING|ENST00000511018||T),UPSTREAM(MODIFIER||2525|||PLXND1|retained_intron|CODING|ENST00000515191||T),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000505505|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 123794050 Sibling 2A C T . . Gene=SBNO1;MT=SNP;MM=DN;CADD=24.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V1175I|1393|SBNO1|protein_coding|CODING|ENST00000420886|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V1174I|1392|SBNO1|protein_coding|CODING|ENST00000267176|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V1174I|1392|SBNO1|protein_coding|CODING|ENST00000602750|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V1175I|1393|SBNO1|protein_coding|CODING|ENST00000602398|27|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105173104 Sibling 2A A G . . Gene=PDCD11;MT=SNP;MM=CM;CADD=11.54;VMM=33.47;EFF=INTRON(MODIFIER||||1871|PDCD11|protein_coding|CODING|ENST00000369797|9|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105183348 Sibling 2A T C . . Gene=PDCD11;MT=SNP;MM=CM;CADD=26.9;VMM=33.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V899A|1871|PDCD11|protein_coding|CODING|ENST00000369797|19|C),UPSTREAM(MODIFIER||1393|||PDCD11|processed_transcript|CODING|ENST00000490787||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 52471709 Sibling 2A T TA . . Gene=NID2;MT=INDEL;MM=CM;CADD=16.76;VMM=39.46;EFF=UTR_3_PRIME(MODIFIER||494||1375|NID2|protein_coding|CODING|ENST00000216286|22|TA),UTR_3_PRIME(MODIFIER||494||1274|NID2|protein_coding|CODING|ENST00000541773|22|TA),DOWNSTREAM(MODIFIER||296||244|C14orf166|protein_coding|CODING|ENST00000261700||TA),DOWNSTREAM(MODIFIER||3126||68|C14orf166|nonsense_mediated_decay|CODING|ENST00000557553||TA),DOWNSTREAM(MODIFIER||339||193|C14orf166|protein_coding|CODING|ENST00000556760||TA),DOWNSTREAM(MODIFIER||290||129|C14orf166|protein_coding|CODING|ENST00000553362||TA|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3076|||C14orf166|retained_intron|CODING|ENST00000555319||TA),DOWNSTREAM(MODIFIER||300|||C14orf166|retained_intron|CODING|ENST00000553479||TA),DOWNSTREAM(MODIFIER||224|||NID2|retained_intron|CODING|ENST00000556686||TA),DOWNSTREAM(MODIFIER||312|||NID2|retained_intron|CODING|ENST00000555310||TA),DOWNSTREAM(MODIFIER||463||643|NID2|protein_coding|CODING|ENST00000556572||TA|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2818|||NID2|retained_intron|CODING|ENST00000553297||TA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 52520915 Sibling 2A G A . . Gene=NID2;MT=SNP;MM=CM;CADD=20.4;VMM=39.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R298C|1375|NID2|protein_coding|CODING|ENST00000216286|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R245C|1274|NID2|protein_coding|CODING|ENST00000541773|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2814950 Sibling 2A C T . . Gene=SRRM2;MT=SNP;MM=CM;CADD=14.85;VMM=39.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1474F|2752|SRRM2|protein_coding|CODING|ENST00000301740|11|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||2752|SRRM2|protein_coding|CODING||11|T),MOTIF[MA0139.1:CTCF](MODIFIER||||||||||T),UPSTREAM(MODIFIER||4923|||AC092117.2|miRNA|NON_CODING|ENST00000581119||T),UPSTREAM(MODIFIER||2558|||SRRM2|processed_transcript|CODING|ENST00000574593||T),UPSTREAM(MODIFIER||2773||183|SRRM2|nonsense_mediated_decay|CODING|ENST00000572883||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2907|||SRRM2|processed_transcript|CODING|ENST00000572721||T),UPSTREAM(MODIFIER||3132|||SRRM2|retained_intron|CODING|ENST00000573311||T),UPSTREAM(MODIFIER||3579|||SRRM2|retained_intron|CODING|ENST00000571041||T),UPSTREAM(MODIFIER||3602|||SRRM2|retained_intron|CODING|ENST00000570705||T),UPSTREAM(MODIFIER||3797|||SRRM2|retained_intron|CODING|ENST00000576878||T),UPSTREAM(MODIFIER||4425|||SRRM2|retained_intron|CODING|ENST00000574331||T),UPSTREAM(MODIFIER||4946|||SRRM2|processed_transcript|CODING|ENST00000574866||T),DOWNSTREAM(MODIFIER||1367||1017|SRRM2|protein_coding|CODING|ENST00000576924||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3242||296|SRRM2|protein_coding|CODING|ENST00000575009||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4328|||SRRM2|retained_intron|CODING|ENST00000576894||T),DOWNSTREAM(MODIFIER||1448||894|SRRM2|protein_coding|CODING|ENST00000571378||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4104|||SRRM2|retained_intron|CODING|ENST00000570971||T),DOWNSTREAM(MODIFIER||4939|||SRRM2|processed_transcript|CODING|ENST00000575870||T),DOWNSTREAM(MODIFIER||3142|||SRRM2|retained_intron|CODING|ENST00000573498||T),DOWNSTREAM(MODIFIER||3139|||SRRM2|processed_transcript|CODING|ENST00000572278||T),DOWNSTREAM(MODIFIER||4103|||SRRM2|retained_intron|CODING|ENST00000576076||T),DOWNSTREAM(MODIFIER||2738|||SRRM2|retained_intron|CODING|ENST00000572952||T),EXON(MODIFIER|||||SRRM2|processed_transcript|CODING|ENST00000576674|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 2816884 Sibling 2A C T . . Gene=SRRM2;MT=SNP;MM=CM;CADD=23.3;VMM=39.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R2119C|2752|SRRM2|protein_coding|CODING|ENST00000301740|11|T),UPSTREAM(MODIFIER||2989|||AC092117.2|miRNA|NON_CODING|ENST00000581119||T),UPSTREAM(MODIFIER||624|||SRRM2|processed_transcript|CODING|ENST00000574593||T),UPSTREAM(MODIFIER||839||183|SRRM2|nonsense_mediated_decay|CODING|ENST00000572883||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||973|||SRRM2|processed_transcript|CODING|ENST00000572721||T),UPSTREAM(MODIFIER||1198|||SRRM2|retained_intron|CODING|ENST00000573311||T),UPSTREAM(MODIFIER||1645|||SRRM2|retained_intron|CODING|ENST00000571041||T),UPSTREAM(MODIFIER||1668|||SRRM2|retained_intron|CODING|ENST00000570705||T),UPSTREAM(MODIFIER||1863|||SRRM2|retained_intron|CODING|ENST00000576878||T),UPSTREAM(MODIFIER||2491|||SRRM2|retained_intron|CODING|ENST00000574331||T),UPSTREAM(MODIFIER||3012|||SRRM2|processed_transcript|CODING|ENST00000574866||T),UPSTREAM(MODIFIER||3472||77|SRRM2|nonsense_mediated_decay|CODING|ENST00000573692||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4028||41|SRRM2|protein_coding|CODING|ENST00000570539||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4395|||SRRM2|processed_transcript|CODING|ENST00000573583||T),DOWNSTREAM(MODIFIER||4531||161|TCEB2|protein_coding|CODING|ENST00000262306||T),DOWNSTREAM(MODIFIER||3301||1017|SRRM2|protein_coding|CODING|ENST00000576924||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3382||894|SRRM2|protein_coding|CODING|ENST00000571378||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4672|||SRRM2|retained_intron|CODING|ENST00000572952||T),DOWNSTREAM(MODIFIER||1515|||SRRM2|processed_transcript|CODING|ENST00000576674||T),DOWNSTREAM(MODIFIER||4531||118|TCEB2|protein_coding|CODING|ENST00000409906||T),DOWNSTREAM(MODIFIER||4532||113|TCEB2|protein_coding|CODING|ENST00000409477||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74273145 Sibling 2A A G . . Gene=QRICH2;MT=SNP;MM=CM;CADD=12.91;VMM=49.57;EFF=INTRON(MODIFIER||||1663|QRICH2|protein_coding|CODING|ENST00000262765|16|G),INTRON(MODIFIER||||495|QRICH2|protein_coding|CODING|ENST00000447564|8|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||108|QRICH2|nonsense_mediated_decay|CODING|ENST00000524722|16|G),INTRON(MODIFIER||||278|QRICH2|protein_coding|CODING|ENST00000532549|5|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74275170 Sibling 2A C T . . Gene=QRICH2;MT=SNP;MM=CM;CADD=34;VMM=49.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1457H|1663|QRICH2|protein_coding|CODING|ENST00000262765|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R104H|278|QRICH2|protein_coding|CODING|ENST00000532549|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||10967||108|QRICH2|nonsense_mediated_decay|CODING|ENST00000524722|14|T),INTRON(MODIFIER||||495|QRICH2|protein_coding|CODING|ENST00000447564|8|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 60191338 Sibling 2A C A . . Gene=ZCCHC2;MT=SNP;MM=CM;CADD=19.56;VMM=35.89;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G227|1178|ZCCHC2|protein_coding|CODING|ENST00000269499|1|A),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G162|377|ZCCHC2|protein_coding|CODING|ENST00000588676|1|A|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|G146|1097|ZCCHC2|nonsense_mediated_decay|CODING|ENST00000585873|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||68|||ZCCHC2|processed_transcript|CODING|ENST00000591632||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 60227939 Sibling 2A T C . . Gene=ZCCHC2;MT=SNP;MM=CM;CADD=16.11;VMM=35.89;EFF=INTRON(MODIFIER||||1178|ZCCHC2|protein_coding|CODING|ENST00000269499|8|C),INTRON(MODIFIER||||1097|ZCCHC2|nonsense_mediated_decay|CODING|ENST00000585873|8|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ZCCHC2|processed_transcript|CODING|ENST00000591632|5|C),INTRON(MODIFIER||||857|ZCCHC2|protein_coding|CODING|ENST00000586834|7|C),INTRON(MODIFIER|||||ZCCHC2|retained_intron|CODING|ENST00000591435|2|C),INTRON(MODIFIER|||||ZCCHC2|retained_intron|CODING|ENST00000585949|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32552020 Sibling 2A A G . . Gene=HLA-DRB1;MT=SNP;MM=CM;CADD=23.9;VMM=34.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V79A|266|HLA-DRB1|protein_coding|CODING|ENST00000360004|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32557667 Sibling 2A C T . . Gene=HLA-DRB1;MT=SNP;MM=CM;CADD=12.94;VMM=34.21;EFF=UPSTREAM(MODIFIER||42||266|HLA-DRB1|protein_coding|CODING|ENST00000360004||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22160001 Sibling 2B C T . . Gene=HSPG2;MT=SNP;MM=CM;CADD=23.3;VMM=36.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R3646H|4391|HSPG2|protein_coding|CODING|ENST00000374695|79|T),UPSTREAM(MODIFIER||2795|||HSPG2|processed_transcript|CODING|ENST00000486901||T),DOWNSTREAM(MODIFIER||30||186|HSPG2|protein_coding|CODING|ENST00000426143||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1645|||HSPG2|processed_transcript|CODING|ENST00000471322||T),DOWNSTREAM(MODIFIER||1901||93|HSPG2|protein_coding|CODING|ENST00000374676||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||HSPG2|processed_transcript|CODING|ENST00000469378|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 22176684 Sibling 2B T A . . Gene=HSPG2;MT=SNP;MM=CM;CADD=13.81;VMM=36.1;EFF=SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|A2432|4391|HSPG2|protein_coding|CODING|ENST00000374695|57|A),SPLICE_SITE_REGION(LOW||||162|HSPG2|protein_coding|CODING|ENST00000430507|12|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||2582||162|HSPG2|protein_coding|CODING|ENST00000430507|12|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2233||206|HSPG2|protein_coding|CODING|ENST00000453796||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1120|||HSPG2|processed_transcript|CODING|ENST00000493940||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 90423020 Sibling 2B T TA . . Gene=MDN1;MT=INDEL;MM=CM;CADD=11.44;VMM=40.74;EFF=SPLICE_SITE_REGION+INTRON(LOW||||5596|MDN1|protein_coding|CODING|ENST00000369393|46|TA),SPLICE_SITE_REGION+INTRON(LOW||||5596|MDN1|protein_coding|CODING|ENST00000428876|46|TA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 90484370 Sibling 2B C T . . Gene=MDN1;MT=SNP;MM=CM;CADD=33;VMM=40.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R635Q|5596|MDN1|protein_coding|CODING|ENST00000369393|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R635Q|5596|MDN1|protein_coding|CODING|ENST00000428876|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R562Q|1180|MDN1|protein_coding|CODING|ENST00000439638|11|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 120260872 Sibling 3A CT C . . Gene=CIT;MT=INDEL;MM=DN;CADD=17.45;VMM=0;EFF=INTRON(MODIFIER||||2069|CIT|protein_coding|CODING|ENST00000392521|8|C),INTRON(MODIFIER||||2027|CIT|protein_coding|CODING|ENST00000261833|8|C),INTRON(MODIFIER||||108|CIT|protein_coding|CODING|ENST00000536325|2|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 55721636 Sibling 3A C T . . Gene=PCDH15;MT=SNP;MM=CM;CADD=20.9;VMM=30.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R962H|1957|PCDH15|protein_coding|CODING|ENST00000361849|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R969H|1684|PCDH15|protein_coding|CODING|ENST00000373965|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R967H|1681|PCDH15|protein_coding|CODING|ENST00000414778|24|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R962H|1539|PCDH15|protein_coding|CODING|ENST00000395438|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R573H|1150|PCDH15|protein_coding|CODING|ENST00000409834|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R969H|1785|PCDH15|protein_coding|CODING|ENST00000395445|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R925H|1915|PCDH15|protein_coding|CODING|ENST00000395432|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R940H|1932|PCDH15|protein_coding|CODING|ENST00000395433|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R962H|1955|PCDH15|protein_coding|CODING|ENST00000320301|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R962H|1952|PCDH15|protein_coding|CODING|ENST00000395430|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R891H|1886|PCDH15|protein_coding|CODING|ENST00000437009|20|T),UTR_3_PRIME(MODIFIER||171058||54|PCDH15|nonsense_mediated_decay|CODING|ENST00000373956|10|T),UTR_3_PRIME(MODIFIER||117501||654|PCDH15|nonsense_mediated_decay|CODING|ENST00000448885|21|T),INTRON(MODIFIER|||||PCDH15|processed_transcript|CODING|ENST00000495484|1|T),INTRON(MODIFIER||||719|PCDH15|protein_coding|CODING|ENST00000395440|11|T),INTRON(MODIFIER||||650|PCDH15|protein_coding|CODING|ENST00000395442|10|T),INTRON(MODIFIER||||981|PCDH15|protein_coding|CODING|ENST00000395446|17|T),INTRON(MODIFIER||||329|PCDH15|nonsense_mediated_decay|CODING|ENST00000414367|8|T),INTRON(MODIFIER||||809|PCDH15|protein_coding|CODING|ENST00000373957|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 56360602 Sibling 3A C G . . Gene=PCDH15;MT=SNP;MM=CM;CADD=13.28;VMM=30.64;EFF=DOWNSTREAM(MODIFIER||159|||NEFMP1|processed_pseudogene|NON_CODING|ENST00000443423||G),INTRON(MODIFIER||||1957|PCDH15|protein_coding|CODING|ENST00000361849|2|G),INTRON(MODIFIER|||||RP11-257I14.1|antisense|NON_CODING|ENST00000422842|2|G),INTRON(MODIFIER||||1684|PCDH15|protein_coding|CODING|ENST00000373965|2|G),INTRON(MODIFIER||||1681|PCDH15|protein_coding|CODING|ENST00000414778|3|G),INTRON(MODIFIER|||||PCDH15|processed_transcript|CODING|ENST00000495484|1|G),INTRON(MODIFIER||||1539|PCDH15|protein_coding|CODING|ENST00000395438|2|G),INTRON(MODIFIER||||1150|PCDH15|protein_coding|CODING|ENST00000409834|2|G),INTRON(MODIFIER||||719|PCDH15|protein_coding|CODING|ENST00000395440|2|G),INTRON(MODIFIER||||650|PCDH15|protein_coding|CODING|ENST00000395442|2|G),INTRON(MODIFIER||||1785|PCDH15|protein_coding|CODING|ENST00000395445|2|G),INTRON(MODIFIER||||981|PCDH15|protein_coding|CODING|ENST00000395446|2|G),INTRON(MODIFIER||||329|PCDH15|nonsense_mediated_decay|CODING|ENST00000414367|2|G),INTRON(MODIFIER||||1915|PCDH15|protein_coding|CODING|ENST00000395432|2|G),INTRON(MODIFIER||||1932|PCDH15|protein_coding|CODING|ENST00000395433|2|G),INTRON(MODIFIER||||809|PCDH15|protein_coding|CODING|ENST00000373957|5|G),INTRON(MODIFIER||||1955|PCDH15|protein_coding|CODING|ENST00000320301|2|G),INTRON(MODIFIER||||54|PCDH15|nonsense_mediated_decay|CODING|ENST00000373956|2|G),INTRON(MODIFIER||||1952|PCDH15|protein_coding|CODING|ENST00000395430|2|G),INTRON(MODIFIER||||654|PCDH15|nonsense_mediated_decay|CODING|ENST00000448885|2|G),INTRON(MODIFIER||||1886|PCDH15|protein_coding|CODING|ENST00000437009|2|G),INTRON(MODIFIER||||961|PCDH15|protein_coding|CODING|ENST00000373955|2|G),INTRON(MODIFIER||||91|PCDH15|protein_coding|CODING|ENST00000458638|4|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 26571894 Sibling 3A TA T . . Gene=ITPR2;MT=INDEL;MM=CM;CADD=14.66;VMM=50.08;EFF=INTRON(MODIFIER|||||RP11-513G19.1|antisense|NON_CODING|ENST00000535324|3|T),INTRON(MODIFIER||||2701|ITPR2|protein_coding|CODING|ENST00000381340|50|T),INTRON(MODIFIER||||102|ITPR2|nonsense_mediated_decay|CODING|ENST00000451599|13|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ITPR2|retained_intron|CODING|ENST00000538984|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 26580958 Sibling 3A A G . . Gene=ITPR2;MT=SNP;MM=CM;CADD=29.3;VMM=50.08;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L2278P|2701|ITPR2|protein_coding|CODING|ENST00000381340|49|G),UTR_3_PRIME(MODIFIER||58865||102|ITPR2|nonsense_mediated_decay|CODING|ENST00000451599|12|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||88|||ITPR2|retained_intron|CODING|ENST00000538984||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 71674345 Sibling 3A C T . . Gene=MARVELD3;MT=SNP;MM=CM;CADD=17.04;VMM=31.61;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I216|410|MARVELD3|protein_coding|CODING|ENST00000299952|3|T),UTR_3_PRIME(MODIFIER||38||148|MARVELD3|protein_coding|CODING|ENST00000565261|3|T),DOWNSTREAM(MODIFIER||3977||401|MARVELD3|protein_coding|CODING|ENST00000268485||T),DOWNSTREAM(MODIFIER||4360||956|PHLPP2|protein_coding|CODING|ENST00000360429||T),DOWNSTREAM(MODIFIER||4482||1323|PHLPP2|protein_coding|CODING|ENST00000568954||T),DOWNSTREAM(MODIFIER||4486||1256|PHLPP2|protein_coding|CODING|ENST00000393524||T),DOWNSTREAM(MODIFIER||4507||1323|PHLPP2|protein_coding|CODING|ENST00000356272||T),INTRON(MODIFIER|||||MARVELD3|processed_transcript|CODING|ENST00000561682|1|T),INTRON(MODIFIER||||723|PHLPP2|nonsense_mediated_decay|CODING|ENST00000568004|14|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||166|PHLPP2|protein_coding|CODING|ENST00000540628|8|T),INTRON(MODIFIER||||318|PHLPP2|nonsense_mediated_decay|CODING|ENST00000564884|8|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 71674405 Sibling 3A T A . . Gene=MARVELD3;MT=SNP;MM=CM;CADD=16.51;VMM=31.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttA|F236L|410|MARVELD3|protein_coding|CODING|ENST00000299952|3|A),UTR_3_PRIME(MODIFIER||98||148|MARVELD3|protein_coding|CODING|ENST00000565261|3|A),DOWNSTREAM(MODIFIER||4037||401|MARVELD3|protein_coding|CODING|ENST00000268485||A),DOWNSTREAM(MODIFIER||4300||956|PHLPP2|protein_coding|CODING|ENST00000360429||A),DOWNSTREAM(MODIFIER||4422||1323|PHLPP2|protein_coding|CODING|ENST00000568954||A),DOWNSTREAM(MODIFIER||4426||1256|PHLPP2|protein_coding|CODING|ENST00000393524||A),DOWNSTREAM(MODIFIER||4447||1323|PHLPP2|protein_coding|CODING|ENST00000356272||A),INTRON(MODIFIER|||||MARVELD3|processed_transcript|CODING|ENST00000561682|1|A),INTRON(MODIFIER||||723|PHLPP2|nonsense_mediated_decay|CODING|ENST00000568004|14|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||166|PHLPP2|protein_coding|CODING|ENST00000540628|8|A),INTRON(MODIFIER||||318|PHLPP2|nonsense_mediated_decay|CODING|ENST00000564884|8|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ../. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136298777 Sibling 3A C T . . Gene=ADAMTS13;MT=SNP;MM=CM;CADD=33;VMM=39.21;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1427|ADAMTS13|protein_coding|CODING||11|T),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1371|ADAMTS13|protein_coding|CODING||11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R421C|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R421C|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R390C|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R93C|364|ADAMTS13|protein_coding|CODING|ENST00000536611|5|T),UTR_3_PRIME(MODIFIER||240||276|ADAMTS13|protein_coding|CODING|ENST00000371916|9|T),UTR_3_PRIME(MODIFIER||3747||344|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000495234|11|T),DOWNSTREAM(MODIFIER||3747||344|ADAMTS13|protein_coding|CODING|ENST00000371911||T),INTRON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|7|T),INTRON(MODIFIER||||276|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000474918|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 136307847 Sibling 3A C T . . Gene=ADAMTS13;MT=SNP;MM=CM;CADD=11.12;VMM=39.21;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L739|1427|ADAMTS13|protein_coding|CODING|ENST00000371929|18|T),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L739|1371|ADAMTS13|protein_coding|CODING|ENST00000355699|18|T),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L708|1340|ADAMTS13|protein_coding|CODING|ENST00000356589|18|T),UTR_3_PRIME(MODIFIER||9310||276|ADAMTS13|protein_coding|CODING|ENST00000371916|16|T),INTRON(MODIFIER|||||ADAMTS13|processed_transcript|CODING|ENST00000485925|9|T),INTRON(MODIFIER||||344|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000495234|16|T),INTRON(MODIFIER||||276|ADAMTS13|nonsense_mediated_decay|CODING|ENST00000474918|13|T),INTRON(MODIFIER||||364|ADAMTS13|protein_coding|CODING|ENST00000536611|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50583069 Sibling 3B G A . . Gene=METTL21D;MT=SNP;MM=CM;CADD=34;VMM=39.43;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||229|VCPKMT|protein_coding|CODING||1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R68W|229|VCPKMT|protein_coding|CODING|ENST00000395860|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R68W|144|VCPKMT|nonsense_mediated_decay|CODING|ENST00000491402|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R68W|194|VCPKMT|protein_coding|CODING|ENST00000395859|1|A),DOWNSTREAM(MODIFIER||778||1332|SOS2|protein_coding|CODING|ENST00000216373||A),DOWNSTREAM(MODIFIER||1959||1299|SOS2|protein_coding|CODING|ENST00000543680||A),EXON(MODIFIER|||||VCPKMT|retained_intron|CODING|ENST00000569518|1|A),EXON(MODIFIER|||||VCPKMT|retained_intron|CODING|ENST00000484763|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50583236 Sibling 3B G A . . Gene=METTL21D;MT=SNP;MM=CM;CADD=10.92;VMM=39.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P12L|229|VCPKMT|protein_coding|CODING|ENST00000395860|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P12L|144|VCPKMT|nonsense_mediated_decay|CODING|ENST00000491402|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P12L|194|VCPKMT|protein_coding|CODING|ENST00000395859|1|A),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||229|VCPKMT|protein_coding|CODING||1|A),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||144|VCPKMT|nonsense_mediated_decay|CODING||1|A),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||194|VCPKMT|protein_coding|CODING||1|A),UPSTREAM(MODIFIER||41|||VCPKMT|retained_intron|CODING|ENST00000569518||A),DOWNSTREAM(MODIFIER||611||1332|SOS2|protein_coding|CODING|ENST00000216373||A),DOWNSTREAM(MODIFIER||1792||1299|SOS2|protein_coding|CODING|ENST00000543680||A),EXON(MODIFIER|||||VCPKMT|retained_intron|CODING|ENST00000484763|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 23078850 Sibling 3B G A . . Gene=USP31;MT=SNP;MM=CM;CADD=22.2;VMM=35.42;EFF=UTR_3_PRIME(MODIFIER||517||1352|USP31|protein_coding|CODING|ENST00000219689|16|A),UPSTREAM(MODIFIER||3356|||RP11-20G6.3|prime3_overlapping_ncrna|NON_CODING|ENST00000563129||A),DOWNSTREAM(MODIFIER||450||645|USP31|protein_coding|CODING|ENST00000567975||A),DOWNSTREAM(MODIFIER||453|||USP31|retained_intron|CODING|ENST00000381162||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 23117810 Sibling 3B TA T . . Gene=USP31;MT=INDEL;MM=CM;CADD=14.19;VMM=35.42;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1352|USP31|protein_coding|CODING|ENST00000219689|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 56171541 Sibling 3B A C . . Gene=U2AF2;MT=SNP;MM=CM;CADD=23.7;VMM=32.26;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||475|U2AF2|protein_coding|CODING|ENST00000308924|2|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||471|U2AF2|protein_coding|CODING|ENST00000450554|2|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||U2AF2|retained_intron|CODING|ENST00000588850|2|C),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||50|U2AF2|nonsense_mediated_decay|CODING|ENST00000587196|3|C|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||U2AF2|retained_intron|CODING|ENST00000592867|1|C),UPSTREAM(MODIFIER||341||85|U2AF2|nonsense_mediated_decay|CODING|ENST00000592874||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2324||307|U2AF2|protein_coding|CODING|ENST00000590551||C),UPSTREAM(MODIFIER||2344|||U2AF2|retained_intron|CODING|ENST00000587275||C),DOWNSTREAM(MODIFIER||1726|||CTD-2537I9.12|antisense|NON_CODING|ENST00000589456||C),DOWNSTREAM(MODIFIER||1737|||CTD-2537I9.12|antisense|NON_CODING|ENST00000585940||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 56180992 Sibling 3B C T . . Gene=U2AF2;MT=SNP;MM=CM;CADD=12.43;VMM=32.26;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||475|U2AF2|protein_coding|CODING||11|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y409|475|U2AF2|protein_coding|CODING|ENST00000308924|11|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y405|471|U2AF2|protein_coding|CODING|ENST00000450554|11|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y241|307|U2AF2|protein_coding|CODING|ENST00000590551|6|T),UPSTREAM(MODIFIER||1006|||CTD-2537I9.13|sense_intronic|NON_CODING|ENST00000592252||T),DOWNSTREAM(MODIFIER||761||85|U2AF2|nonsense_mediated_decay|CODING|ENST00000592874||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||CTD-2537I9.12|antisense|NON_CODING|ENST00000589456|1|T),INTRON(MODIFIER|||||CTD-2537I9.12|antisense|NON_CODING|ENST00000585940|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33584248 Sibling 3B G A . . Gene=MYH7B;MT=SNP;MM=CM;CADD=24.5;VMM=95.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G1057S|1983|MYH7B|protein_coding|CODING|ENST00000262873|27|A),UPSTREAM(MODIFIER||4800||143|MYH7B|protein_coding|CODING|ENST00000433934||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4800||149|MYH7B|protein_coding|CODING|ENST00000435272||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4800||144|MYH7B|protein_coding|CODING|ENST00000446156||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4800||122|MYH7B|protein_coding|CODING|ENST00000453028||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4800||149|MYH7B|protein_coding|CODING|ENST00000456649||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33588185 Sibling 3B A T . . Gene=MYH7B;MT=SNP;MM=CM;CADD=28.2;VMM=95.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K1666M|1983|MYH7B|protein_coding|CODING|ENST00000262873|37|T),UPSTREAM(MODIFIER||863||143|MYH7B|protein_coding|CODING|ENST00000433934||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||149|MYH7B|protein_coding|CODING|ENST00000435272||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||144|MYH7B|protein_coding|CODING|ENST00000446156||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||122|MYH7B|protein_coding|CODING|ENST00000453028||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||149|MYH7B|protein_coding|CODING|ENST00000456649||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2022||797|TRPC4AP|protein_coding|CODING|ENST00000252015||T),DOWNSTREAM(MODIFIER||2022||789|TRPC4AP|protein_coding|CODING|ENST00000451813||T),DOWNSTREAM(MODIFIER||2363||399|TRPC4AP|protein_coding|CODING|ENST00000539834||T),DOWNSTREAM(MODIFIER||2578||758|TRPC4AP|protein_coding|CODING|ENST00000432634||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 10367663 Sibling 3B CT C . . Gene=ATP2B2;MT=INDEL;MM=CM;CADD=18.05;VMM=41.36;EFF=UTR_3_PRIME(MODIFIER||2834||1243|ATP2B2|protein_coding|CODING|ENST00000352432|22|C),UTR_3_PRIME(MODIFIER||2834||1229|ATP2B2|protein_coding|CODING|ENST00000343816|22|C),UTR_3_PRIME(MODIFIER||2834||1243|ATP2B2|protein_coding|CODING|ENST00000360273|23|C),UTR_3_PRIME(MODIFIER||2834||1198|ATP2B2|protein_coding|CODING|ENST00000383800|20|C),UTR_3_PRIME(MODIFIER||6050||1154|ATP2B2|nonsense_mediated_decay|CODING|ENST00000460129|22|C),UTR_3_PRIME(MODIFIER||2834||1198|ATP2B2|protein_coding|CODING|ENST00000397077|22|C),UPSTREAM(MODIFIER||4896||368|SEC13|protein_coding|CODING|ENST00000383801||C),UPSTREAM(MODIFIER||4249|||MIR378B|miRNA|NON_CODING|ENST00000578876||C),UPSTREAM(MODIFIER||4939||308|SEC13|protein_coding|CODING|ENST00000397109||C),UPSTREAM(MODIFIER||4898||325|SEC13|protein_coding|CODING|ENST00000337354||C),UPSTREAM(MODIFIER||4802||322|SEC13|protein_coding|CODING|ENST00000350697||C),UPSTREAM(MODIFIER||4919||284|SEC13|protein_coding|CODING|ENST00000397117||C),UPSTREAM(MODIFIER||4887|||SEC13|retained_intron|CODING|ENST00000397105||C),UPSTREAM(MODIFIER||4920||85|SEC13|protein_coding|CODING|ENST00000431352||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4868|||SEC13|retained_intron|CODING|ENST00000397102||C),UPSTREAM(MODIFIER||4868|||SEC13|retained_intron|CODING|ENST00000397101||C),UPSTREAM(MODIFIER||4894|||SEC13|retained_intron|CODING|ENST00000397099||C),UPSTREAM(MODIFIER||4924||27|SEC13|protein_coding|CODING|ENST00000428626||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4922||26|SEC13|protein_coding|CODING|ENST00000445064||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4887||23|SEC13|protein_coding|CODING|ENST00000432213||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2118||1099|ATP2B2|protein_coding|CODING|ENST00000452124||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2466|||ATP2B2|processed_transcript|CODING|ENST00000467702||C),DOWNSTREAM(MODIFIER||2831|||ATP2B2|processed_transcript|CODING|ENST00000468426||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 10368574 Sibling 3B G C . . Gene=ATP2B2;MT=SNP;MM=CM;CADD=19.67;VMM=41.36;EFF=UTR_3_PRIME(MODIFIER||1924||1243|ATP2B2|protein_coding|CODING|ENST00000352432|22|C),UTR_3_PRIME(MODIFIER||1924||1229|ATP2B2|protein_coding|CODING|ENST00000343816|22|C),UTR_3_PRIME(MODIFIER||1924||1243|ATP2B2|protein_coding|CODING|ENST00000360273|23|C),UTR_3_PRIME(MODIFIER||1924||1198|ATP2B2|protein_coding|CODING|ENST00000383800|20|C),UTR_3_PRIME(MODIFIER||5140||1154|ATP2B2|nonsense_mediated_decay|CODING|ENST00000460129|22|C),UTR_3_PRIME(MODIFIER||1924||1198|ATP2B2|protein_coding|CODING|ENST00000397077|22|C),UPSTREAM(MODIFIER||3339|||MIR378B|miRNA|NON_CODING|ENST00000578876||C),DOWNSTREAM(MODIFIER||1208||1099|ATP2B2|protein_coding|CODING|ENST00000452124||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1556|||ATP2B2|processed_transcript|CODING|ENST00000467702||C),DOWNSTREAM(MODIFIER||1921|||ATP2B2|processed_transcript|CODING|ENST00000468426||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 40323067 Sibling 4A C T . . Gene=RIT2;MT=SNP;MM=DN;CADD=19.33;VMM=0;EFF=DOWNSTREAM(MODIFIER||125||217|RIT2|protein_coding|CODING|ENST00000326695||T),DOWNSTREAM(MODIFIER||125||153|RIT2|protein_coding|CODING|ENST00000589109||T),DOWNSTREAM(MODIFIER||367||169|RIT2|protein_coding|CODING|ENST00000590910||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 7858597 Sibling 4A C G . . Gene=PER3;MT=SNP;MM=CM;CADD=23.2;VMM=75.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D219E|1210|PER3|protein_coding|CODING|ENST00000377532|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D218E|378|PER3|protein_coding|CODING|ENST00000377541|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D218E|1201|PER3|protein_coding|CODING|ENST00000361923|6|G),UPSTREAM(MODIFIER||4514|||PER3|retained_intron|CODING|ENST00000463106||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 7887769 Sibling 4A C T . . Gene=PER3;MT=SNP;MM=CM;CADD=25;VMM=75.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S927L|1210|PER3|protein_coding|CODING|ENST00000377532|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S919L|1201|PER3|protein_coding|CODING|ENST00000361923|17|T),UPSTREAM(MODIFIER||367|||RP3-467L1.4|antisense|NON_CODING|ENST00000451646||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43675514 Sibling 4A G A . . Gene=WDR65;MT=SNP;MM=CM;CADD=34;VMM=69.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R619H|1250|WDR65|protein_coding|CODING|ENST00000372492|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R619H|698|WDR65|protein_coding|CODING|ENST00000528956|11|A),UTR_3_PRIME(MODIFIER||32688||63|WDR65|nonsense_mediated_decay|CODING|ENST00000533339|12|A),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000461557|4|A),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000466927|2|A),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000474566|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43680974 Sibling 4A G A . . Gene=WDR65;MT=SNP;MM=CM;CADD=16.54;VMM=69.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G660S|1250|WDR65|protein_coding|CODING|ENST00000372492|12|A),UPSTREAM(MODIFIER||53||77|WDR65|nonsense_mediated_decay|CODING|ENST00000428122||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4425||698|WDR65|protein_coding|CODING|ENST00000528956||A),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000461557|3|A),EXON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000466927|2|A),EXON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000474566|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56349421 Sibling 4A G A . . Gene=PMEL;MT=SNP;MM=CM;CADD=33;VMM=59.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S530L|668|PMEL|protein_coding|CODING|ENST00000360714|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S530L|668|PMEL|protein_coding|CODING|ENST00000449260|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S530L|661|PMEL|protein_coding|CODING|ENST00000552882|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S444L|575|PMEL|protein_coding|CODING|ENST00000550464|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S530L|661|PMEL|protein_coding|CODING|ENST00000548747|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S488L|626|PMEL|protein_coding|CODING|ENST00000536427|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S444L|575|PMEL|protein_coding|CODING|ENST00000539511|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S530L|661|PMEL|protein_coding|CODING|ENST00000548493|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S159L|290|PMEL|protein_coding|CODING|ENST00000550447|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S375L|450|PMEL|protein_coding|CODING|ENST00000549404|7|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1622||735|DGKA|protein_coding|CODING|ENST00000331886||A),DOWNSTREAM(MODIFIER||2768||544|DGKA|protein_coding|CODING|ENST00000555218||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3929||118|DGKA|nonsense_mediated_decay|CODING|ENST00000553084||A),DOWNSTREAM(MODIFIER||1616||735|DGKA|protein_coding|CODING|ENST00000394147||A),DOWNSTREAM(MODIFIER||1610||247|DGKA|nonsense_mediated_decay|CODING|ENST00000402956||A),DOWNSTREAM(MODIFIER||1610||735|DGKA|protein_coding|CODING|ENST00000551156||A),DOWNSTREAM(MODIFIER||1616|||DGKA|retained_intron|CODING|ENST00000551296||A),DOWNSTREAM(MODIFIER||1616|||DGKA|retained_intron|CODING|ENST00000552478||A),DOWNSTREAM(MODIFIER||1842|||DGKA|processed_transcript|CODING|ENST00000549079||A),DOWNSTREAM(MODIFIER||1623|||DGKA|retained_intron|CODING|ENST00000551739||A),DOWNSTREAM(MODIFIER||2870||201|DGKA|protein_coding|CODING|ENST00000552903||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3227|||DGKA|retained_intron|CODING|ENST00000551585||A),DOWNSTREAM(MODIFIER||2190|||DGKA|retained_intron|CODING|ENST00000550957||A),DOWNSTREAM(MODIFIER||1627|||DGKA|retained_intron|CODING|ENST00000548491||A),DOWNSTREAM(MODIFIER||159|||PMEL|retained_intron|CODING|ENST00000550762||A),DOWNSTREAM(MODIFIER||476||295|PMEL|protein_coding|CODING|ENST00000548803||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1472||343|PMEL|protein_coding|CODING|ENST00000547137||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1622||298|PMEL|protein_coding|CODING|ENST00000546543||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1648|||PMEL|retained_intron|CODING|ENST00000556802||A),DOWNSTREAM(MODIFIER||2297|||PMEL|processed_transcript|CODING|ENST00000548689||A),DOWNSTREAM(MODIFIER||2535|||PMEL|retained_intron|CODING|ENST00000550590||A),DOWNSTREAM(MODIFIER||2615|||PMEL|retained_intron|CODING|ENST00000549430||A),DOWNSTREAM(MODIFIER||2852||150|PMEL|protein_coding|CODING|ENST00000549418||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2910||133|PMEL|protein_coding|CODING|ENST00000549233||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||PMEL|processed_transcript|CODING|ENST00000549564|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 56351828 Sibling 4A C T . . Gene=PMEL;MT=SNP;MM=CM;CADD=15.16;VMM=59.86;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|668|PMEL|protein_coding|CODING|ENST00000360714|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|668|PMEL|protein_coding|CODING|ENST00000449260|5|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|661|PMEL|protein_coding|CODING|ENST00000552882|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L84|575|PMEL|protein_coding|CODING|ENST00000550464|3|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|661|PMEL|protein_coding|CODING|ENST00000548747|5|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|626|PMEL|protein_coding|CODING|ENST00000536427|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L84|575|PMEL|protein_coding|CODING|ENST00000539511|4|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L170|661|PMEL|protein_coding|CODING|ENST00000548493|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L57|450|PMEL|protein_coding|CODING|ENST00000549404|2|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|ctG/ctA|L121|298|PMEL|protein_coding|CODING|ENST00000546543|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||702|||PMEL|processed_transcript|CODING|ENST00000549564||T),UPSTREAM(MODIFIER||1505|||PMEL|retained_intron|CODING|ENST00000550762||T),DOWNSTREAM(MODIFIER||4029||735|DGKA|protein_coding|CODING|ENST00000331886||T),DOWNSTREAM(MODIFIER||4023||735|DGKA|protein_coding|CODING|ENST00000394147||T),DOWNSTREAM(MODIFIER||4017||247|DGKA|nonsense_mediated_decay|CODING|ENST00000402956||T),DOWNSTREAM(MODIFIER||4017||735|DGKA|protein_coding|CODING|ENST00000551156||T),DOWNSTREAM(MODIFIER||4023|||DGKA|retained_intron|CODING|ENST00000551296||T),DOWNSTREAM(MODIFIER||4023|||DGKA|retained_intron|CODING|ENST00000552478||T),DOWNSTREAM(MODIFIER||4249|||DGKA|processed_transcript|CODING|ENST00000549079||T),DOWNSTREAM(MODIFIER||4030|||DGKA|retained_intron|CODING|ENST00000551739||T),DOWNSTREAM(MODIFIER||4597|||DGKA|retained_intron|CODING|ENST00000550957||T),DOWNSTREAM(MODIFIER||4034|||DGKA|retained_intron|CODING|ENST00000548491||T),DOWNSTREAM(MODIFIER||128|||PMEL|retained_intron|CODING|ENST00000550590||T),DOWNSTREAM(MODIFIER||208|||PMEL|retained_intron|CODING|ENST00000549430||T),DOWNSTREAM(MODIFIER||445||150|PMEL|protein_coding|CODING|ENST00000549418||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||503||133|PMEL|protein_coding|CODING|ENST00000549233||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3156|||PMEL|retained_intron|CODING|ENST00000549413||T),INTRON(MODIFIER||||290|PMEL|protein_coding|CODING|ENST00000550447|3|T),INTRON(MODIFIER||||295|PMEL|protein_coding|CODING|ENST00000548803|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||343|PMEL|protein_coding|CODING|ENST00000547137|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||PMEL|retained_intron|CODING|ENST00000556802|2|T),EXON(MODIFIER|||||PMEL|processed_transcript|CODING|ENST00000548689|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 93541363 Sibling 4A C T . . Gene=CHD2;MT=SNP;MM=CM;CADD=13.27;VMM=30.46;EFF=SPLICE_SITE_REGION+INTRON(LOW||||35|CHD2|nonsense_mediated_decay|CODING|ENST00000582447|1|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||289|||CHD2|retained_intron|CODING|ENST00000553402||T),INTRON(MODIFIER||||1828|CHD2|protein_coding|CODING|ENST00000394196|30|T),INTRON(MODIFIER||||1739|CHD2|protein_coding|CODING|ENST00000557381|30|T),INTRON(MODIFIER||||76|CHD2|nonsense_mediated_decay|CODING|ENST00000554828|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 93543800 Sibling 4A A G . . Gene=CHD2;MT=SNP;MM=CM;CADD=20.8;VMM=30.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K1356R|1828|CHD2|protein_coding|CODING|ENST00000394196|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K1356R|1739|CHD2|protein_coding|CODING|ENST00000557381|32|G),UTR_3_PRIME(MODIFIER||2427||35|CHD2|nonsense_mediated_decay|CODING|ENST00000582447|4|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2726|||CHD2|retained_intron|CODING|ENST00000553402||G),DOWNSTREAM(MODIFIER||1964||76|CHD2|nonsense_mediated_decay|CODING|ENST00000554828||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7743453 Sibling 4A C T . . Gene=KDM6B;MT=SNP;MM=CM;CADD=13.03;VMM=42.05;EFF=UPSTREAM(MODIFIER||4072|||KDM6B|processed_transcript|CODING|ENST00000575521||T),UPSTREAM(MODIFIER||4780||360|KDM6B|protein_coding|CODING|ENST00000570632||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1682|KDM6B|protein_coding|CODING|ENST00000254846|1|T),INTRON(MODIFIER|||||KDM6B|processed_transcript|CODING|ENST00000571047|1|T),INTRON(MODIFIER||||1643|KDM6B|protein_coding|CODING|ENST00000448097|1|T),INTRON(MODIFIER|||||KDM6B|processed_transcript|CODING|ENST00000572030|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7752569 Sibling 4A G A . . Gene=KDM6B;MT=SNP;MM=CM;CADD=28.8;VMM=42.05;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R988Q|1682|KDM6B|protein_coding|CODING|ENST00000254846|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R988Q|1643|KDM6B|protein_coding|CODING|ENST00000448097|11|A),DOWNSTREAM(MODIFIER||3904|||KDM6B|processed_transcript|CODING|ENST00000571047||A),DOWNSTREAM(MODIFIER||4279|||KDM6B|processed_transcript|CODING|ENST00000575521||A),DOWNSTREAM(MODIFIER||1680||360|KDM6B|protein_coding|CODING|ENST00000570632||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15531993 Sibling 4A C T . . Gene=TRIM16;MT=SNP;MM=CM;CADD=21.3;VMM=40.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R544Q|564|TRIM16|protein_coding|CODING|ENST00000336708|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R328Q|348|TRIM16|protein_coding|CODING|ENST00000577886|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R414Q|434|TRIM16|protein_coding|CODING|ENST00000416464|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R544Q|564|TRIM16|protein_coding|CODING|ENST00000578237|11|T),UTR_3_PRIME(MODIFIER||298||140|TRIM16|protein_coding|CODING|ENST00000579219|3|T),DOWNSTREAM(MODIFIER||17|||TRIM16|retained_intron|CODING|ENST00000577326||T),DOWNSTREAM(MODIFIER||482||110|TRIM16|protein_coding|CODING|ENST00000580110||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2980|||TRIM16|retained_intron|CODING|ENST00000473368||T),DOWNSTREAM(MODIFIER||3852||114|TRIM16|protein_coding|CODING|ENST00000577372||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3915||183|TRIM16|protein_coding|CODING|ENST00000578744||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3953|||TRIM16|processed_transcript|CODING|ENST00000473540||T),INTRON(MODIFIER||||953|RP11-385D13.1|protein_coding|CODING|ENST00000455584|6|T),INTRON(MODIFIER||||232|TRIM16|protein_coding|CODING|ENST00000577446|4|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15535860 Sibling 4A C G . . Gene=TRIM16;MT=SNP;MM=CM;CADD=16.55;VMM=40.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E326D|953|RP11-385D13.1|protein_coding|CODING|ENST00000455584|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E326D|564|TRIM16|protein_coding|CODING|ENST00000336708|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E110D|348|TRIM16|protein_coding|CODING|ENST00000577886|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E196D|434|TRIM16|protein_coding|CODING|ENST00000416464|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E326D|564|TRIM16|protein_coding|CODING|ENST00000578237|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E79D|232|TRIM16|protein_coding|CODING|ENST00000577446|2|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E110D|114|TRIM16|protein_coding|CODING|ENST00000577372|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||511|||TRIM16|retained_intron|CODING|ENST00000577326||G),DOWNSTREAM(MODIFIER||48||183|TRIM16|protein_coding|CODING|ENST00000578744||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||86|||TRIM16|processed_transcript|CODING|ENST00000473540||G),DOWNSTREAM(MODIFIER||3658|||TRIM16|processed_transcript|CODING|ENST00000581224||G),DOWNSTREAM(MODIFIER||3660||95|TRIM16|protein_coding|CODING|ENST00000581200||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3676|||TRIM16|processed_transcript|CODING|ENST00000460728||G),INTRON(MODIFIER||||140|TRIM16|protein_coding|CODING|ENST00000579219|2|G),INTRON(MODIFIER||||110|TRIM16|protein_coding|CODING|ENST00000580110|2|G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||TRIM16|retained_intron|CODING|ENST00000473368|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100115619 Sibling 4A G A . . Gene=VPS13B;MT=SNP;MM=CM;CADD=13.48;VMM=42.01;EFF=INTRON(MODIFIER||||4022|VPS13B|protein_coding|CODING|ENST00000358544|5|A),INTRON(MODIFIER||||863|VPS13B|protein_coding|CODING|ENST00000355155|5|A),INTRON(MODIFIER||||1427|VPS13B|nonsense_mediated_decay|CODING|ENST00000496144|5|A),INTRON(MODIFIER||||1427|VPS13B|protein_coding|CODING|ENST00000395996|5|A),INTRON(MODIFIER||||3997|VPS13B|protein_coding|CODING|ENST00000357162|5|A),INTRON(MODIFIER||||415|VPS13B|protein_coding|CODING|ENST00000441350|5|A),INTRON(MODIFIER|||||VPS13B|processed_transcript|CODING|ENST00000524330|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100865786 Sibling 4A C T . . Gene=VPS13B;MT=SNP;MM=CM;CADD=27.6;VMM=42.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T3415I|4022|VPS13B|protein_coding|CODING|ENST00000358544|56|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T3390I|3997|VPS13B|protein_coding|CODING|ENST00000357162|56|T),UTR_3_PRIME(MODIFIER||345729||1427|VPS13B|protein_coding|CODING|ENST00000395996|57|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 227907811 Sibling 4B C T . . Gene=COL4A4;MT=SNP;MM=DN;CADD=26.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1127R|1690|COL4A4|protein_coding|CODING|ENST00000396625|36|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G1127R|1687|COL4A4|protein_coding|CODING|ENST00000329662|36|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 24390646 Sibling 4B A G . . Gene=MYOM3;MT=SNP;MM=CM;CADD=27.4;VMM=40.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S1183P|1440|MYOM3|protein_coding|CODING|ENST00000330966|30|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S73P|330|MYOM3|protein_coding|CODING|ENST00000338909|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S1180P|1437|MYOM3|protein_coding|CODING|ENST00000374434|30|G),UPSTREAM(MODIFIER||2618|||RP11-293P20.4|antisense|NON_CODING|ENST00000429191||G),DOWNSTREAM(MODIFIER||1630||1214|MYOM3|protein_coding|CODING|ENST00000329601||G),INTRON(MODIFIER|||||MYOM3|processed_transcript|CODING|ENST00000448831|1|G),EXON(MODIFIER|||||RP11-293P20.2|antisense|NON_CODING|ENST00000439239|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 24413252 Sibling 4B G A . . Gene=MYOM3;MT=SNP;MM=CM;CADD=13.15;VMM=40.36;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F561|1440|MYOM3|protein_coding|CODING|ENST00000330966|15|A),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F560|1437|MYOM3|protein_coding|CODING|ENST00000374434|15|A),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F560|1214|MYOM3|protein_coding|CODING|ENST00000329601|15|A),UPSTREAM(MODIFIER||2630|||MYOM3|processed_transcript|CODING|ENST00000448831||A),DOWNSTREAM(MODIFIER||3197|||RP11-293P20.4|antisense|NON_CODING|ENST00000429191||A),EXON(MODIFIER|||||RP11-293P20.2|antisense|NON_CODING|ENST00000439239|4|A),EXON(MODIFIER|||||MYOM3|processed_transcript|CODING|ENST00000475306|13|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 145663340 Sibling 4B G A . . Gene=RNF115;MT=SNP;MM=CM;CADD=26.9;VMM=35.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R134H|304|RNF115|protein_coding|CODING|ENST00000369291|4|A),UTR_3_PRIME(MODIFIER||15318||55|RNF115|nonsense_mediated_decay|CODING|ENST00000539368|5|A),DOWNSTREAM(MODIFIER||67||46|RNF115|nonsense_mediated_decay|CODING|ENST00000542738||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 145684811 Sibling 4B C T . . Gene=RNF115;MT=SNP;MM=CM;CADD=12.16;VMM=35.78;EFF=INTRON(MODIFIER||||304|RNF115|protein_coding|CODING|ENST00000369291|7|T),INTRON(MODIFIER||||55|RNF115|nonsense_mediated_decay|CODING|ENST00000539368|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 157497524 Sibling 4B C T . . Gene=FCRL5;MT=SNP;MM=CM;CADD=23.4;VMM=41.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G615R|977|FCRL5|protein_coding|CODING|ENST00000356953|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G615R|977|FCRL5|protein_coding|CODING|ENST00000361835|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G615R|759|FCRL5|protein_coding|CODING|ENST00000368190|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G530R|674|FCRL5|protein_coding|CODING|ENST00000368191|8|T),UPSTREAM(MODIFIER||4940|||FCRL5|processed_transcript|CODING|ENST00000461387||T),DOWNSTREAM(MODIFIER||4230||592|FCRL5|protein_coding|CODING|ENST00000368189||T),EXON(MODIFIER|||||FCRL5|processed_transcript|CODING|ENST00000497286|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 157519374 Sibling 4B C CA . . Gene=FCRL5;MT=INDEL;MM=CM;CADD=15.46;VMM=41.74;EFF=SPLICE_SITE_REGION+INTRON(LOW||||977|FCRL5|protein_coding|CODING|ENST00000361835|1|CA),SPLICE_SITE_REGION+INTRON(LOW||||759|FCRL5|protein_coding|CODING|ENST00000368190|1|CA),SPLICE_SITE_REGION+INTRON(LOW||||674|FCRL5|protein_coding|CODING|ENST00000368191|1|CA),SPLICE_SITE_REGION+INTRON(LOW||||592|FCRL5|protein_coding|CODING|ENST00000368189|1|CA),SPLICE_SITE_REGION+INTRON(LOW|||||FCRL5|processed_transcript|CODING|ENST00000481082|1|CA),SPLICE_SITE_REGION+INTRON(LOW||||124|FCRL5|protein_coding|CODING|ENST00000368188|1|CA),INTRON(MODIFIER||||977|FCRL5|protein_coding|CODING|ENST00000356953|1|CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 8688799 Sibling 4B T A . . Gene=CLEC4E;MT=SNP;MM=CM;CADD=22.7;VMM=65.65;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gaA/gaT|E125D|219|CLEC4E|protein_coding|CODING|ENST00000299663|5|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gaA/gaT|E80D|174|CLEC4E|protein_coding|CODING|ENST00000545274|4|A),SPLICE_SITE_REGION(LOW||||92|CLEC4E|nonsense_mediated_decay|CODING|ENST00000450725|4|A),UTR_3_PRIME(MODIFIER||2955||92|CLEC4E|nonsense_mediated_decay|CODING|ENST00000450725|4|A),DOWNSTREAM(MODIFIER||2751|||CLEC4E|retained_intron|CODING|ENST00000446809||A),INTRON(MODIFIER||||92|CLEC4E|protein_coding|CODING|ENST00000446457|3|A),INTRON(MODIFIER||||93|CLEC4E|protein_coding|CODING|ENST00000537698|2|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 8693383 Sibling 4B G T . . Gene=CLEC4E;MT=SNP;MM=CM;CADD=22.8;VMM=65.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S4Y|219|CLEC4E|protein_coding|CODING|ENST00000299663|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S4Y|92|CLEC4E|protein_coding|CODING|ENST00000446457|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S4Y|174|CLEC4E|protein_coding|CODING|ENST00000545274|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S4Y|92|CLEC4E|nonsense_mediated_decay|CODING|ENST00000450725|1|T),UPSTREAM(MODIFIER||1532||93|CLEC4E|protein_coding|CODING|ENST00000537698||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CLEC4E|retained_intron|CODING|ENST00000446809|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74272955 Sibling 4B G A . . Gene=QRICH2;MT=SNP;MM=CM;CADD=16.73;VMM=43.83;EFF=INTRON(MODIFIER||||1663|QRICH2|protein_coding|CODING|ENST00000262765|16|A),INTRON(MODIFIER||||495|QRICH2|protein_coding|CODING|ENST00000447564|8|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||108|QRICH2|nonsense_mediated_decay|CODING|ENST00000524722|16|A),INTRON(MODIFIER||||278|QRICH2|protein_coding|CODING|ENST00000532549|5|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74274232 Sibling 4B G A . . Gene=QRICH2;MT=SNP;MM=CM;CADD=22.4;VMM=43.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A1486V|1663|QRICH2|protein_coding|CODING|ENST00000262765|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A133V|278|QRICH2|protein_coding|CODING|ENST00000532549|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||11905||108|QRICH2|nonsense_mediated_decay|CODING|ENST00000524722|15|A),INTRON(MODIFIER||||495|QRICH2|protein_coding|CODING|ENST00000447564|8|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 38985104 Sibling 4B C T . . Gene=RYR1;MT=SNP;MM=CM;CADD=16.6;VMM=36.71;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D2129|5038|RYR1|protein_coding|CODING|ENST00000359596|39|T),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D2129|5033|RYR1|protein_coding|CODING|ENST00000355481|39|T),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D2129|5033|RYR1|protein_coding|CODING|ENST00000360985|39|T),UPSTREAM(MODIFIER||1751||885|RYR1|nonsense_mediated_decay|CODING|ENST00000594335||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 39052073 Sibling 4B C T . . Gene=RYR1;MT=SNP;MM=CM;CADD=19.34;VMM=36.71;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R4201|5038|RYR1|protein_coding|CODING|ENST00000359596|90|T),SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R4196|5033|RYR1|protein_coding|CODING|ENST00000355481|89|T),SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R4196|5033|RYR1|protein_coding|CODING|ENST00000360985|89|T),UTR_3_PRIME(MODIFIER||49165||885|RYR1|nonsense_mediated_decay|CODING|ENST00000594335|48|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 71559097 Sibling 4B C CT . . Gene=ZNF638;MT=INDEL;MM=CM;CADD=19.5;VMM=57.66;EFF=INTRON(MODIFIER||||1978|ZNF638|protein_coding|CODING|ENST00000264447|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000494621|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000466975|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000410075|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000466330|1|CT),INTRON(MODIFIER||||196|ZNF638|protein_coding|CODING|ENST00000437658|1|CT|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||814|ZNF638|protein_coding|CODING|ENST00000377802|1|CT),INTRON(MODIFIER||||1139|ZNF638|protein_coding|CODING|ENST00000355812|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000464375|1|CT),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000475743|1|CT),INTRON(MODIFIER||||1978|ZNF638|protein_coding|CODING|ENST00000409544|1|CT),INTRON(MODIFIER||||61|ZNF638|protein_coding|CODING|ENST00000454278|1|CT|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||61|ZNF638|protein_coding|CODING|ENST00000455226|1|CT|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000487707|1|CT),INTRON(MODIFIER||||28|ZNF638|protein_coding|CODING|ENST00000417778|1|CT|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||35|ZNF638|protein_coding|CODING|ENST00000454122|1|CT|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 71576806 Sibling 4B A C . . Gene=ZNF638;MT=SNP;MM=CM;CADD=24;VMM=57.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E241A|1978|ZNF638|protein_coding|CODING|ENST00000264447|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E241A|814|ZNF638|protein_coding|CODING|ENST00000377802|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E241A|1139|ZNF638|protein_coding|CODING|ENST00000355812|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gCa|E241A|1978|ZNF638|protein_coding|CODING|ENST00000409544|2|C),DOWNSTREAM(MODIFIER||131||196|ZNF638|protein_coding|CODING|ENST00000437658||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||535||61|ZNF638|protein_coding|CODING|ENST00000454278||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||535||61|ZNF638|protein_coding|CODING|ENST00000455226||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||838|||ZNF638|processed_transcript|CODING|ENST00000487707||C),DOWNSTREAM(MODIFIER||634||28|ZNF638|protein_coding|CODING|ENST00000417778||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||613||35|ZNF638|protein_coding|CODING|ENST00000454122||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000494621|1|C),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000466975|1|C),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000466330|1|C),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000464375|1|C),INTRON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000475743|1|C),EXON(MODIFIER|||||ZNF638|processed_transcript|CODING|ENST00000410075|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 130869608 Sibling 4B T G . . Gene=POTEF;MT=SNP;MM=CM;CADD=20.6;VMM=57.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K293Q|1075|POTEF|protein_coding|CODING|ENST00000357462|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K293Q|1075|POTEF|protein_coding|CODING|ENST00000409914|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K293Q|376|POTEF|protein_coding|CODING|ENST00000360967|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K303Q|394|POTEF|protein_coding|CODING|ENST00000361163|4|G),UPSTREAM(MODIFIER||2725|||RNU6-1049P|snRNA|NON_CODING|ENST00000516414||G),DOWNSTREAM(MODIFIER||2294|||AC018804.3|antisense|NON_CODING|ENST00000433507||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 130877775 Sibling 4B C A . . Gene=POTEF;MT=SNP;MM=CM;CADD=22.6;VMM=57.45;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C105F|1075|POTEF|protein_coding|CODING|ENST00000357462|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C105F|1075|POTEF|protein_coding|CODING|ENST00000409914|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C105F|376|POTEF|protein_coding|CODING|ENST00000360967|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C105F|394|POTEF|protein_coding|CODING|ENST00000361163|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 29726465 Sibling 4B C A . . Gene=AP1B1;MT=SNP;MM=CM;CADD=23.2;VMM=53.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V890L|949|AP1B1|protein_coding|CODING|ENST00000357586|21|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V883L|942|AP1B1|protein_coding|CODING|ENST00000356015|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V883L|939|AP1B1|protein_coding|CODING|ENST00000432560|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V890L|949|AP1B1|protein_coding|CODING|ENST00000405198|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V863L|919|AP1B1|protein_coding|CODING|ENST00000317368|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V883L|939|AP1B1|protein_coding|CODING|ENST00000402502|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V883L|939|AP1B1|protein_coding|CODING|ENST00000415447|19|A),DOWNSTREAM(MODIFIER||2687|||SNORD125|snoRNA|NON_CODING|ENST00000459538||A),DOWNSTREAM(MODIFIER||981|||AP1B1|processed_transcript|CODING|ENST00000472057||A),EXON(MODIFIER|||||AP1B1|retained_intron|CODING|ENST00000482818|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 29735798 Sibling 4B C T . . Gene=AP1B1;MT=SNP;MM=CM;CADD=18.86;VMM=53.06;EFF=DOWNSTREAM(MODIFIER||1754||577|AP1B1|protein_coding|CODING|ENST00000421126||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||949|AP1B1|protein_coding|CODING|ENST00000357586|14|T),INTRON(MODIFIER||||942|AP1B1|protein_coding|CODING|ENST00000356015|14|T),INTRON(MODIFIER||||939|AP1B1|protein_coding|CODING|ENST00000432560|14|T),INTRON(MODIFIER||||949|AP1B1|protein_coding|CODING|ENST00000405198|13|T),INTRON(MODIFIER||||919|AP1B1|protein_coding|CODING|ENST00000317368|14|T),INTRON(MODIFIER||||939|AP1B1|protein_coding|CODING|ENST00000402502|13|T),INTRON(MODIFIER||||939|AP1B1|protein_coding|CODING|ENST00000415447|13|T),INTRON(MODIFIER|||||AP1B1|processed_transcript|CODING|ENST00000472057|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 125856688 Sibling 4B C G . . Gene=ALDH1L1;MT=SNP;MM=CM;CADD=20.8;VMM=37.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D408H|912|ALDH1L1|protein_coding|CODING|ENST00000273450|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D398H|902|ALDH1L1|protein_coding|CODING|ENST00000472186|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D297H|801|ALDH1L1|protein_coding|CODING|ENST00000452905|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D398H|902|ALDH1L1|protein_coding|CODING|ENST00000393434|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Cac|D398H|505|ALDH1L1|protein_coding|CODING|ENST00000393431|10|G),UTR_3_PRIME(MODIFIER||21705||47|ALDH1L1|nonsense_mediated_decay|CODING|ENST00000473607|11|G),EXON(MODIFIER|||||ALDH1L1|retained_intron|CODING|ENST00000476245|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 125897485 Sibling 4B C T . . Gene=ALDH1L1;MT=SNP;MM=CM;CADD=15.8;VMM=37.57;EFF=UPSTREAM(MODIFIER||1423|||ALDH1L1-AS2|antisense|NON_CODING|ENST00000500232||T),UPSTREAM(MODIFIER||1434|||ALDH1L1-AS2|antisense|NON_CODING|ENST00000502278||T),INTRON(MODIFIER||||912|ALDH1L1|protein_coding|CODING|ENST00000273450|1|T),INTRON(MODIFIER||||902|ALDH1L1|protein_coding|CODING|ENST00000472186|1|T),INTRON(MODIFIER||||801|ALDH1L1|protein_coding|CODING|ENST00000452905|1|T),INTRON(MODIFIER||||902|ALDH1L1|protein_coding|CODING|ENST00000393434|1|T),INTRON(MODIFIER||||505|ALDH1L1|protein_coding|CODING|ENST00000393431|1|T),INTRON(MODIFIER||||47|ALDH1L1|nonsense_mediated_decay|CODING|ENST00000473607|1|T),INTRON(MODIFIER||||160|ALDH1L1|protein_coding|CODING|ENST00000455064|1|T),INTRON(MODIFIER||||81|ALDH1L1|nonsense_mediated_decay|CODING|ENST00000493803|1|T),INTRON(MODIFIER||||176|ALDH1L1|protein_coding|CODING|ENST00000490367|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||167|ALDH1L1|protein_coding|CODING|ENST00000460368|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||156|ALDH1L1|protein_coding|CODING|ENST00000488356|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||99|ALDH1L1|protein_coding|CODING|ENST00000509952|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||47|ALDH1L1|nonsense_mediated_decay|CODING|ENST00000511283|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 22424324 Sibling 4B C G . . Gene=SORBS3;MT=SNP;MM=CM;CADD=17.04;VMM=75.4;EFF=UPSTREAM(MODIFIER||227||225|SORBS3|protein_coding|CODING|ENST00000523348||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4133||185|SORBS3|protein_coding|CODING|ENST00000517962||G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4881||156|SORBS3|protein_coding|CODING|ENST00000520207||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||117||328|SORBS3|nonsense_mediated_decay|CODING|ENST00000517500||G),DOWNSTREAM(MODIFIER||2505||150|SORBS3|protein_coding|CODING|ENST00000520563||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2449||186|SORBS3|protein_coding|CODING|ENST00000524057||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||939|||SORBS3|processed_transcript|CODING|ENST00000518512||G),DOWNSTREAM(MODIFIER||1146|||SORBS3|retained_intron|CODING|ENST00000520574||G),INTRON(MODIFIER||||671|SORBS3|protein_coding|CODING|ENST00000240123|14|G),INTRON(MODIFIER|||||RP11-582J16.3|antisense|NON_CODING|ENST00000517384|1|G),INTRON(MODIFIER|||||SORBS3|retained_intron|CODING|ENST00000517535|12|G),INTRON(MODIFIER|||||SORBS3|processed_transcript|CODING|ENST00000521787|4|G),INTRON(MODIFIER|||||SORBS3|processed_transcript|CODING|ENST00000523740|5|G),INTRON(MODIFIER||||173|SORBS3|protein_coding|CODING|ENST00000523900|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||134|SORBS3|protein_coding|CODING|ENST00000518912|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||329|SORBS3|protein_coding|CODING|ENST00000428103|3|G),INTRON(MODIFIER||||259|SORBS3|protein_coding|CODING|ENST00000523965|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||284|SORBS3|protein_coding|CODING|ENST00000521554|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||93|SORBS3|protein_coding|CODING|ENST00000522721|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||SORBS3|retained_intron|CODING|ENST00000522315|2|G),EXON(MODIFIER|||||SORBS3|retained_intron|CODING|ENST00000519453|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 22426701 Sibling 4B C T . . Gene=SORBS3;MT=SNP;MM=CM;CADD=35;VMM=75.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P449L|671|SORBS3|protein_coding|CODING|ENST00000240123|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P107L|173|SORBS3|protein_coding|CODING|ENST00000523900|6|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P107L|134|SORBS3|protein_coding|CODING|ENST00000518912|6|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P107L|329|SORBS3|protein_coding|CODING|ENST00000428103|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P107L|259|SORBS3|protein_coding|CODING|ENST00000523965|6|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P120L|284|SORBS3|protein_coding|CODING|ENST00000521554|5|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P60L|225|SORBS3|protein_coding|CODING|ENST00000523348|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2017|||RP11-582J16.3|antisense|NON_CODING|ENST00000517384||T),UPSTREAM(MODIFIER||1756||185|SORBS3|protein_coding|CODING|ENST00000517962||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2504||156|SORBS3|protein_coding|CODING|ENST00000520207||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4149||68|SORBS3|protein_coding|CODING|ENST00000519127||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2494||328|SORBS3|nonsense_mediated_decay|CODING|ENST00000517500||T),DOWNSTREAM(MODIFIER||4882||150|SORBS3|protein_coding|CODING|ENST00000520563||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4826||186|SORBS3|protein_coding|CODING|ENST00000524057||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3316|||SORBS3|processed_transcript|CODING|ENST00000518512||T),DOWNSTREAM(MODIFIER||3523|||SORBS3|retained_intron|CODING|ENST00000520574||T),DOWNSTREAM(MODIFIER||2333|||SORBS3|processed_transcript|CODING|ENST00000521787||T),DOWNSTREAM(MODIFIER||2076|||SORBS3|retained_intron|CODING|ENST00000522315||T),DOWNSTREAM(MODIFIER||2010||93|SORBS3|protein_coding|CODING|ENST00000522721||T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||SORBS3|retained_intron|CODING|ENST00000517535|15|T),EXON(MODIFIER|||||SORBS3|processed_transcript|CODING|ENST00000523740|8|T),EXON(MODIFIER|||||SORBS3|retained_intron|CODING|ENST00000519453|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 33457501 Sibling 5A T C . . Gene=TARS;MT=SNP;MM=CM;CADD=28.8;VMM=33.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I359T|756|TARS|protein_coding|CODING|ENST00000455217|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I326T|723|TARS|protein_coding|CODING|ENST00000502553|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I326T|723|TARS|protein_coding|CODING|ENST00000265112|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I222T|619|TARS|protein_coding|CODING|ENST00000541634|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I205T|602|TARS|protein_coding|CODING|ENST00000414361|8|C),UTR_3_PRIME(MODIFIER||4075||56|TARS|nonsense_mediated_decay|CODING|ENST00000508361|8|C),UTR_3_PRIME(MODIFIER||2348||131|TARS|nonsense_mediated_decay|CODING|ENST00000507716|8|C),UTR_3_PRIME(MODIFIER||10722||55|TARS|nonsense_mediated_decay|CODING|ENST00000509731|10|C),UPSTREAM(MODIFIER||3612|||TARS|processed_transcript|CODING|ENST00000509410||C),DOWNSTREAM(MODIFIER||4050||128|TARS|protein_coding|CODING|ENST00000514259||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2384||118|TARS|nonsense_mediated_decay|CODING|ENST00000505012||C),DOWNSTREAM(MODIFIER||4030||66|TARS|nonsense_mediated_decay|CODING|ENST00000513066||C),EXON(MODIFIER|||||TARS|retained_intron|CODING|ENST00000504698|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 33468779 Sibling 5A A T . . Gene=TARS;MT=SNP;MM=CM;CADD=10.97;VMM=33.59;EFF=UTR_3_PRIME(MODIFIER||966||723|TARS|protein_coding|CODING|ENST00000265112|19|T),DOWNSTREAM(MODIFIER||836||756|TARS|protein_coding|CODING|ENST00000455217||T),DOWNSTREAM(MODIFIER||741||723|TARS|protein_coding|CODING|ENST00000502553||T),DOWNSTREAM(MODIFIER||612||619|TARS|protein_coding|CODING|ENST00000541634||T),DOWNSTREAM(MODIFIER||589||56|TARS|nonsense_mediated_decay|CODING|ENST00000508361||T),DOWNSTREAM(MODIFIER||612||602|TARS|protein_coding|CODING|ENST00000414361||T),DOWNSTREAM(MODIFIER||612||131|TARS|nonsense_mediated_decay|CODING|ENST00000507716||T),DOWNSTREAM(MODIFIER||1757||55|TARS|nonsense_mediated_decay|CODING|ENST00000509731||T),DOWNSTREAM(MODIFIER||2458|||TARS|processed_transcript|CODING|ENST00000509410||T),DOWNSTREAM(MODIFIER||583|||TARS|retained_intron|CODING|ENST00000503422||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 131767637 Sibling 5B C T . . Gene=NUP188;MT=SNP;MM=DN;CADD=23.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1522L|1749|NUP188|protein_coding|CODING|ENST00000372577|40|T),UPSTREAM(MODIFIER||360|||RP11-167N5.5|lincRNA|NON_CODING|ENST00000594418||T),DOWNSTREAM(MODIFIER||2681||404|SH3GLB2|protein_coding|CODING|ENST00000372554||T),DOWNSTREAM(MODIFIER||1365|||NUP188|retained_intron|CODING|ENST00000477069||T),DOWNSTREAM(MODIFIER||3467|||NUP188|retained_intron|CODING|ENST00000487952||T),DOWNSTREAM(MODIFIER||1678||395|SH3GLB2|protein_coding|CODING|ENST00000372564||T),DOWNSTREAM(MODIFIER||2434|||SH3GLB2|retained_intron|CODING|ENST00000479237||T),DOWNSTREAM(MODIFIER||2676||395|SH3GLB2|protein_coding|CODING|ENST00000372559||T),DOWNSTREAM(MODIFIER||2779|||SH3GLB2|retained_intron|CODING|ENST00000461811||T),DOWNSTREAM(MODIFIER||3092||400|SH3GLB2|protein_coding|CODING|ENST00000417224||T),DOWNSTREAM(MODIFIER||3092||374|SH3GLB2|protein_coding|CODING|ENST00000416629||T),DOWNSTREAM(MODIFIER||3869||24|SH3GLB2|nonsense_mediated_decay|CODING|ENST00000455407||T),DOWNSTREAM(MODIFIER||4378|||SH3GLB2|retained_intron|CODING|ENST00000483980||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 10443250 Sibling 5B G A . . Gene=MID1;MT=SNP;MM=XL;CADD=17.52;VMM=0;EFF=INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000317552|5|A),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000453318|5|A),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380779|5|A),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380780|5|A),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380785|6|A),INTRON(MODIFIER||||667|MID1|protein_coding|CODING|ENST00000380787|5|A),INTRON(MODIFIER||||552|MID1|protein_coding|CODING|ENST00000380782|5|A),INTRON(MODIFIER||||482|MID1|protein_coding|CODING|ENST00000413894|5|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 29816040 Sibling 5B G A . . Gene=SVIL;MT=SNP;MM=CM;CADD=18.23;VMM=48.77;EFF=UPSTREAM(MODIFIER||4584||1128|SVIL|protein_coding|CODING|ENST00000535393||A),UPSTREAM(MODIFIER||4543|||SVIL|processed_transcript|CODING|ENST00000464984||A),INTRON(MODIFIER||||2214|SVIL|protein_coding|CODING|ENST00000355867|12|A),INTRON(MODIFIER||||1788|SVIL|protein_coding|CODING|ENST00000375400|11|A),INTRON(MODIFIER||||2214|SVIL|protein_coding|CODING|ENST00000375398|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 29839731 Sibling 5B C A . . Gene=SVIL;MT=SNP;MM=CM;CADD=22.4;VMM=48.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G208C|2214|SVIL|protein_coding|CODING|ENST00000355867|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G208C|1788|SVIL|protein_coding|CODING|ENST00000375400|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G208C|2214|SVIL|protein_coding|CODING|ENST00000375398|8|A),DOWNSTREAM(MODIFIER||4288|||SVIL|processed_transcript|CODING|ENST00000483758||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 108381471 Sibling 5B C G . . Gene=EXPH5;MT=SNP;MM=CM;CADD=20.5;VMM=47.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R1588T|1989|EXPH5|protein_coding|CODING|ENST00000265843|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R1400T|1801|EXPH5|protein_coding|CODING|ENST00000443411|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R1512T|1913|EXPH5|protein_coding|CODING|ENST00000428840|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R1581T|1982|EXPH5|protein_coding|CODING|ENST00000525344|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R1512T|1732|EXPH5|protein_coding|CODING|ENST00000526312|6|G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||623||1191|EXPH5|protein_coding|CODING|ENST00000533052||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2663|||EXPH5|processed_transcript|CODING|ENST00000524840||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 108384021 Sibling 5B G C . . Gene=EXPH5;MT=SNP;MM=CM;CADD=19.47;VMM=47.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S738C|1989|EXPH5|protein_coding|CODING|ENST00000265843|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S550C|1801|EXPH5|protein_coding|CODING|ENST00000443411|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S662C|1913|EXPH5|protein_coding|CODING|ENST00000428840|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S731C|1982|EXPH5|protein_coding|CODING|ENST00000525344|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S662C|1732|EXPH5|protein_coding|CODING|ENST00000526312|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S550C|1191|EXPH5|protein_coding|CODING|ENST00000533052|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||113|||EXPH5|processed_transcript|CODING|ENST00000524840||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3715446 Sibling 5B A T . . Gene=C17orf85;MT=SNP;MM=CM;CADD=15.7;VMM=51.28;EFF=UTR_3_PRIME(MODIFIER||892||620|C17orf85|protein_coding|CODING|ENST00000389005|13|T),UTR_3_PRIME(MODIFIER||892||340|C17orf85|protein_coding|CODING|ENST00000158149|14|T),UTR_3_PRIME(MODIFIER||11912||35|C17orf85|nonsense_mediated_decay|CODING|ENST00000574911|8|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3298|||CTD-3195I5.1|lincRNA|NON_CODING|ENST00000571336||T),DOWNSTREAM(MODIFIER||388||80|C17orf85|protein_coding|CODING|ENST00000576523||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||C17orf85|retained_intron|CODING|ENST00000575815|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3716416 Sibling 5B C G . . Gene=C17orf85;MT=SNP;MM=CM;CADD=27.6;VMM=51.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K595N|620|C17orf85|protein_coding|CODING|ENST00000389005|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K315N|340|C17orf85|protein_coding|CODING|ENST00000158149|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K43N|80|C17orf85|protein_coding|CODING|ENST00000576523|1|G|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||10942||35|C17orf85|nonsense_mediated_decay|CODING|ENST00000574911|8|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4268|||CTD-3195I5.1|lincRNA|NON_CODING|ENST00000571336||G),EXON(MODIFIER|||||C17orf85|retained_intron|CODING|ENST00000575815|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27677498 Sibling 5B C A . . Gene=IFT172;MT=SNP;MM=CM;CADD=35;VMM=91.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R1134L|1749|IFT172|protein_coding|CODING|ENST00000260570|31|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R2L|195|IFT172|protein_coding|CODING|ENST00000443889|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||525|||AC074117.13|processed_pseudogene|NON_CODING|ENST00000417130||A),UPSTREAM(MODIFIER||544||323|IFT172|nonsense_mediated_decay|CODING|ENST00000509128||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||497||96|IFT172|nonsense_mediated_decay|CODING|ENST00000450564||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863|||IFT172|retained_intron|CODING|ENST00000475909||A),DOWNSTREAM(MODIFIER||3262|||IFT172|retained_intron|CODING|ENST00000476693||A),EXON(MODIFIER|||||IFT172|retained_intron|CODING|ENST00000507184|31|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27712638 Sibling 5B G A . . Gene=IFT172;MT=SNP;MM=CM;CADD=19.49;VMM=91.21;EFF=UTR_5_PRIME(MODIFIER||118||532|IFT172|protein_coding|CODING|ENST00000359466|1|A),UTR_5_PRIME(MODIFIER||4292||511|IFT172|protein_coding|CODING|ENST00000416524|1|A),UPSTREAM(MODIFIER||14||1749|IFT172|protein_coding|CODING|ENST00000260570||A),UPSTREAM(MODIFIER||70|||IFT172|retained_intron|CODING|ENST00000507184||A),UPSTREAM(MODIFIER||93|||IFT172|retained_intron|CODING|ENST00000511842||A),UPSTREAM(MODIFIER||38|||IFT172|retained_intron|CODING|ENST00000476264||A),UPSTREAM(MODIFIER||17|||IFT172|retained_intron|CODING|ENST00000475476||A),DOWNSTREAM(MODIFIER||2112||234|FNDC4|protein_coding|CODING|ENST00000264703||A),DOWNSTREAM(MODIFIER||2130|||FNDC4|retained_intron|CODING|ENST00000491414||A),DOWNSTREAM(MODIFIER||2942|||FNDC4|retained_intron|CODING|ENST00000476197||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 134357108 Sibling 5B G C . . Gene=PRRC2B;MT=SNP;MM=CM;CADD=11.06;VMM=30.05;EFF=SPLICE_SITE_REGION+INTRON(LOW||||2229|PRRC2B|protein_coding|CODING|ENST00000357304|18|C),SPLICE_SITE_REGION+INTRON(LOW||||1535|PRRC2B|protein_coding|CODING|ENST00000405995|18|C),SPLICE_SITE_REGION+INTRON(LOW||||1535|PRRC2B|protein_coding|CODING|ENST00000458550|17|C),SPLICE_SITE_REGION+INTRON(LOW||||268|PRRC2B|protein_coding|CODING|ENST00000372249|12|C),SPLICE_SITE_REGION+INTRON(LOW||||586|PRRC2B|protein_coding|CODING|ENST00000451855|4|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3944|||SNORD62A|snoRNA|NON_CODING|ENST00000428514||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 134357164 Sibling 5B C T . . Gene=PRRC2B;MT=SNP;MM=CM;CADD=25.5;VMM=30.05;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A1651V|2229|PRRC2B|protein_coding|CODING|ENST00000357304|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A957V|1535|PRRC2B|protein_coding|CODING|ENST00000405995|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A957V|1535|PRRC2B|protein_coding|CODING|ENST00000458550|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A384V|586|PRRC2B|protein_coding|CODING|ENST00000451855|5|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_5_PRIME(MODIFIER||3315||268|PRRC2B|protein_coding|CODING|ENST00000372249|13|T),UPSTREAM(MODIFIER||3888|||SNORD62A|snoRNA|NON_CODING|ENST00000428514||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 32073296 Sibling 6A C G . . Gene=DTNA;MT=SNP;MM=DN;CADD=15.36;VMM=0;EFF=UTR_5_PRIME(MODIFIER||262645||686|DTNA|protein_coding|CODING|ENST00000283365|1|G),UTR_5_PRIME(MODIFIER||262645||320|DTNA|protein_coding|CODING|ENST00000596745|1|G),UTR_5_PRIME(MODIFIER||262645||374|DTNA|protein_coding|CODING|ENST00000315456|1|G),UPSTREAM(MODIFIER||39|||DTNA|processed_transcript|CODING|ENST00000588771||G),UPSTREAM(MODIFIER||78|||DTNA|processed_transcript|CODING|ENST00000588506||G),UPSTREAM(MODIFIER||571||118|DTNA|protein_coding|CODING|ENST00000590412||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149498325 Sibling 6A G A . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=14.94;VMM=50.19;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G963|1106|PDGFRB|protein_coding|CODING|ENST00000261799|21|A),UTR_3_PRIME(MODIFIER||15192||239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579|21|A),UPSTREAM(MODIFIER||3804|||PDGFRB|processed_transcript|CODING|ENST00000520851||A),DOWNSTREAM(MODIFIER||705|||PDGFRB|processed_transcript|CODING|ENST00000519575||A),DOWNSTREAM(MODIFIER||2165|||PDGFRB|processed_transcript|CODING|ENST00000521723||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149514495 Sibling 6A C T . . Gene=PDGFRB;MT=SNP;MM=CM;CADD=28.7;VMM=50.19;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1106|PDGFRB|protein_coding|CODING||4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|1106|PDGFRB|protein_coding|CODING|ENST00000261799|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|239|PDGFRB|nonsense_mediated_decay|CODING|ENST00000520579|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R86Q|145|PDGFRB|protein_coding|CODING|ENST00000517488|3|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R150Q|173|PDGFRB|protein_coding|CODING|ENST00000517957|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||822|||PDGFRB|retained_intron|CODING|ENST00000522466||T),DOWNSTREAM(MODIFIER||2372|||PDGFRB|processed_transcript|CODING|ENST00000517660||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 27419389 Sibling 6A G A . . Gene=ZNF184;MT=SNP;MM=CM;CADD=22.5;VMM=43.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T650I|751|ZNF184|protein_coding|CODING|ENST00000211936|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T650I|751|ZNF184|protein_coding|CODING|ENST00000377419|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 27435642 Sibling 6A G A . . Gene=ZNF184;MT=SNP;MM=CM;CADD=16.44;VMM=43.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A22V|751|ZNF184|protein_coding|CODING|ENST00000211936|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A22V|751|ZNF184|protein_coding|CODING|ENST00000377419|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 76558195 Sibling 6A C T . . Gene=MYO6;MT=SNP;MM=CM;CADD=25.3;VMM=34.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A342V|1286|MYO6|protein_coding|CODING|ENST00000369981|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A342V|1262|MYO6|protein_coding|CODING|ENST00000369985|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A342V|1285|MYO6|protein_coding|CODING|ENST00000369977|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A342V|1253|MYO6|protein_coding|CODING|ENST00000369975|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 76627263 Sibling 6A C CACCT . . Gene=MYO6;MT=INDEL;MM=CM;CADD=12.51;VMM=34.81;EFF=UTR_3_PRIME(MODIFIER||2535||1286|MYO6|protein_coding|CODING|ENST00000369981|35|CACCT),UTR_3_PRIME(MODIFIER||2535||1262|MYO6|protein_coding|CODING|ENST00000369985|33|CACCT),DOWNSTREAM(MODIFIER||3568||797|IMPG1|protein_coding|CODING|ENST00000369950||CACCT),DOWNSTREAM(MODIFIER||935||1285|MYO6|protein_coding|CODING|ENST00000369977||CACCT),DOWNSTREAM(MODIFIER||935||1253|MYO6|protein_coding|CODING|ENST00000369975||CACCT),DOWNSTREAM(MODIFIER||3568||147|IMPG1|protein_coding|CODING|ENST00000369963||CACCT),DOWNSTREAM(MODIFIER||4184||158|IMPG1|protein_coding|CODING|ENST00000369952||CACCT|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 160337038 Sibling 7A C T . . Gene=NHLH1;MT=SNP;MM=CM;CADD=17.68;VMM=36.38;EFF=START_GAINED(LOW||||133|NHLH1|protein_coding|CODING|ENST00000302101|1|T),UTR_5_PRIME(MODIFIER||3484||133|NHLH1|protein_coding|CODING|ENST00000302101|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 160342123 Sibling 7A ATATT A . . Gene=NHLH1;MT=INDEL;MM=CM;CADD=17.99;VMM=36.38;EFF=UTR_3_PRIME(MODIFIER||1201||133|NHLH1|protein_coding|CODING|ENST00000302101|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 74879875 Sibling 7A T A . . Gene=NUDT13;MT=SNP;MM=CM;CADD=12.97;VMM=35.22;EFF=SYNONYMOUS_CODING(LOW|SILENT|acT/acA|T61|352|NUDT13|protein_coding|CODING|ENST00000357321|3|A),SYNONYMOUS_CODING(LOW|SILENT|acT/acA|T61|263|NUDT13|protein_coding|CODING|ENST00000349051|3|A),SYNONYMOUS_CODING(LOW|SILENT|acT/acA|T61|235|NUDT13|protein_coding|CODING|ENST00000372997|3|A),UTR_5_PRIME(MODIFIER||5281||155|NUDT13|protein_coding|CODING|ENST00000537969|4|A),UTR_5_PRIME(MODIFIER||4117||226|NUDT13|protein_coding|CODING|ENST00000544879|4|A),DOWNSTREAM(MODIFIER||4456|||RP11-152N13.16|antisense|NON_CODING|ENST00000608444||A),DOWNSTREAM(MODIFIER||4949|||NUDT13|processed_transcript|CODING|ENST00000469925||A),EXON(MODIFIER|||||NUDT13|processed_transcript|CODING|ENST00000488223|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 74882044 Sibling 7A T G . . Gene=NUDT13;MT=SNP;MM=CM;CADD=24.5;VMM=35.22;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L112R|352|NUDT13|protein_coding|CODING|ENST00000357321|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L112R|263|NUDT13|protein_coding|CODING|ENST00000349051|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L112R|235|NUDT13|protein_coding|CODING|ENST00000372997|4|G),UTR_5_PRIME(MODIFIER||3112||155|NUDT13|protein_coding|CODING|ENST00000537969|5|G),UTR_5_PRIME(MODIFIER||1948||226|NUDT13|protein_coding|CODING|ENST00000544879|5|G),DOWNSTREAM(MODIFIER||2287|||RP11-152N13.16|antisense|NON_CODING|ENST00000608444||G),DOWNSTREAM(MODIFIER||3794|||SNORA11|snoRNA|NON_CODING|ENST00000408237||G),EXON(MODIFIER|||||NUDT13|processed_transcript|CODING|ENST00000488223|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 27678473 Sibling 7A TAAAAC T . . Gene=BDNF;MT=INDEL;MM=CM;CADD=15.88;VMM=31.81;EFF=UTR_3_PRIME(MODIFIER||890||329|BDNF|protein_coding|CODING|ENST00000438929|3|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000439476|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000525528|1|T),UTR_3_PRIME(MODIFIER||890||262|BDNF|protein_coding|CODING|ENST00000395986|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000533131|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000356660|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000418212|3|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000533246|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000530861|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000395983|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000420794|4|T),UTR_3_PRIME(MODIFIER||3333||77|BDNF|nonsense_mediated_decay|CODING|ENST00000530786|4|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000395980|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000532997|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000395978|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000395981|2|T),UTR_3_PRIME(MODIFIER||890||247|BDNF|protein_coding|CODING|ENST00000525950|2|T),UTR_3_PRIME(MODIFIER||890||255|BDNF|protein_coding|CODING|ENST00000314915|2|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000499008|4|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000530686|3|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000532965|5|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000501176|4|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000499568|3|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000500662|3|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000502161|3|T),INTRON(MODIFIER|||||BDNF-AS|antisense|NON_CODING|ENST00000530313|1|T),EXON(MODIFIER|||||BDNF|processed_transcript|CODING|ENST00000584049|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 27722638 Sibling 7A C T . . Gene=BDNF;MT=SNP;MM=CM;CADD=17.83;VMM=31.81;EFF=UPSTREAM(MODIFIER||38||329|BDNF|protein_coding|CODING|ENST00000438929||T),UPSTREAM(MODIFIER||1424||262|BDNF|protein_coding|CODING|ENST00000395986||T),UPSTREAM(MODIFIER||1424||247|BDNF|protein_coding|CODING|ENST00000533131||T),UPSTREAM(MODIFIER||603||247|BDNF|protein_coding|CODING|ENST00000356660||T),UPSTREAM(MODIFIER||603||247|BDNF|protein_coding|CODING|ENST00000418212||T),UPSTREAM(MODIFIER||603||247|BDNF|protein_coding|CODING|ENST00000533246||T),UPSTREAM(MODIFIER||191||247|BDNF|protein_coding|CODING|ENST00000530861||T),UPSTREAM(MODIFIER||38||247|BDNF|protein_coding|CODING|ENST00000395983||T),UPSTREAM(MODIFIER||38||247|BDNF|protein_coding|CODING|ENST00000420794||T),UPSTREAM(MODIFIER||38||77|BDNF|nonsense_mediated_decay|CODING|ENST00000530786||T),DOWNSTREAM(MODIFIER||2917|||BDNF-AS|antisense|NON_CODING|ENST00000499568||T),DOWNSTREAM(MODIFIER||2917|||BDNF-AS|antisense|NON_CODING|ENST00000500662||T),DOWNSTREAM(MODIFIER||2917|||BDNF-AS|antisense|NON_CODING|ENST00000502161||T),INTRON(MODIFIER|||||RP11-587D21.4|sense_overlapping|NON_CODING|ENST00000530663|1|T),INTRON(MODIFIER||||247|BDNF|protein_coding|CODING|ENST00000395980|1|T),INTRON(MODIFIER|||||BDNF|processed_transcript|CODING|ENST00000584049|1|T),INTRON(MODIFIER||||247|BDNF|protein_coding|CODING|ENST00000532997|1|T),INTRON(MODIFIER||||247|BDNF|protein_coding|CODING|ENST00000395978|1|T),INTRON(MODIFIER||||247|BDNF|protein_coding|CODING|ENST00000395981|1|T),INTRON(MODIFIER||||247|BDNF|protein_coding|CODING|ENST00000525950|1|T),INTRON(MODIFIER||||255|BDNF|protein_coding|CODING|ENST00000314915|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 133362993 Sibling 7A C G . . Gene=GOLGA3;MT=SNP;MM=CM;CADD=22.6;VMM=43.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1019P|1498|GOLGA3|protein_coding|CODING|ENST00000204726|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1019P|1498|GOLGA3|protein_coding|CODING|ENST00000450791|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1019P|1390|GOLGA3|protein_coding|CODING|ENST00000456883|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1019P|1134|GOLGA3|protein_coding|CODING|ENST00000537452|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A1019P|1134|GOLGA3|protein_coding|CODING|ENST00000545875|15|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 133384494 Sibling 7A TCTCCGA T . . Gene=GOLGA3;MT=INDEL;MM=CM;CADD=16.4;VMM=43.2;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtcggaga/aga|SRR385R|1498|GOLGA3|protein_coding|CODING|ENST00000204726|5|T),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtcggaga/aga|SRR385R|1498|GOLGA3|protein_coding|CODING|ENST00000450791|4|T),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtcggaga/aga|SRR385R|1390|GOLGA3|protein_coding|CODING|ENST00000456883|5|T),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtcggaga/aga|SRR385R|1134|GOLGA3|protein_coding|CODING|ENST00000537452|4|T),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtcggaga/aga|SRR385R|1134|GOLGA3|protein_coding|CODING|ENST00000545875|5|T),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||1498|GOLGA3|protein_coding|CODING||5|T),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||1390|GOLGA3|protein_coding|CODING||5|T),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||1134|GOLGA3|protein_coding|CODING||5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31596974 Sibling 7A C G . . Gene=PRRC2A;MT=SNP;MM=CM;CADD=19.25;VMM=64.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P607A|2157|PRRC2A|protein_coding|CODING|ENST00000376007|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P607A|2157|PRRC2A|protein_coding|CODING|ENST00000376033|13|G),UPSTREAM(MODIFIER||4757|||PRRC2A|retained_intron|CODING|ENST00000460302||G),DOWNSTREAM(MODIFIER||2335|||PRRC2A|processed_transcript|CODING|ENST00000469577||G),DOWNSTREAM(MODIFIER||3700|||PRRC2A|retained_intron|CODING|ENST00000464079||G),DOWNSTREAM(MODIFIER||2123|||PRRC2A|retained_intron|CODING|ENST00000464890||G),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000483470|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31604894 Sibling 7A C T . . Gene=PRRC2A;MT=SNP;MM=CM;CADD=26.6;VMM=64.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2075W|2157|PRRC2A|protein_coding|CODING|ENST00000376007|29|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2075W|2157|PRRC2A|protein_coding|CODING|ENST00000376033|29|T),DOWNSTREAM(MODIFIER||1912||1162|BAG6|protein_coding|CODING|ENST00000404765||T),DOWNSTREAM(MODIFIER||2361|||PRRC2A|retained_intron|CODING|ENST00000460302||T),DOWNSTREAM(MODIFIER||1801|||PRRC2A|retained_intron|CODING|ENST00000484787||T),DOWNSTREAM(MODIFIER||1408|||PRRC2A|retained_intron|CODING|ENST00000469501||T),DOWNSTREAM(MODIFIER||867|||PRRC2A|retained_intron|CODING|ENST00000487089||T),DOWNSTREAM(MODIFIER||306|||PRRC2A|retained_intron|CODING|ENST00000487839||T),DOWNSTREAM(MODIFIER||1911|||BAG6|processed_transcript|CODING|ENST00000464869||T),DOWNSTREAM(MODIFIER||1911|||BAG6|processed_transcript|CODING|ENST00000464126||T),DOWNSTREAM(MODIFIER||1911||135|BAG6|protein_coding|CODING|ENST00000422948||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1911||225|BAG6|protein_coding|CODING|ENST00000441793||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1911||1126|BAG6|protein_coding|CODING|ENST00000375976||T),DOWNSTREAM(MODIFIER||1911||1126|BAG6|protein_coding|CODING|ENST00000211379||T),DOWNSTREAM(MODIFIER||1912||903|BAG6|protein_coding|CODING|ENST00000439687||T),DOWNSTREAM(MODIFIER||1912||1132|BAG6|protein_coding|CODING|ENST00000375964||T),DOWNSTREAM(MODIFIER||1924||1077|BAG6|protein_coding|CODING|ENST00000362049||T),DOWNSTREAM(MODIFIER||3708|||BAG6|retained_intron|CODING|ENST00000462875||T),DOWNSTREAM(MODIFIER||4731|||BAG6|processed_transcript|CODING|ENST00000470875||T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000492691|4|T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000462617|2|T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000482441|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 205409 Sibling 7A A G . . Gene=PLCXD1;MT=SNP;MM=CM;CADD=24.8;VMM=77.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|323|PLCXD1|protein_coding|CODING|ENST00000381657|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|323|PLCXD1|protein_coding|CODING|ENST00000399012|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|173|PLCXD1|protein_coding|CODING|ENST00000430923|3|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|87|PLCXD1|protein_coding|CODING|ENST00000445062|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|59|PLCXD1|protein_coding|CODING|ENST00000429181|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|323|PLCXD1|protein_coding|CODING|ENST00000381663|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|73|PLCXD1|protein_coding|CODING|ENST00000443019|3|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|177|PLCXD1|protein_coding|CODING|ENST00000415337|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|173|PLCXD1|protein_coding|CODING|ENST00000447472|3|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D46G|123|PLCXD1|protein_coding|CODING|ENST00000448477|2|G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||PLCXD1|processed_transcript|CODING|ENST00000484611|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 208319 Sibling 7A G T . . Gene=PLCXD1;MT=SNP;MM=CM;CADD=23.7;VMM=77.24;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Tgg|G183W|323|PLCXD1|protein_coding|CODING|ENST00000381657|5|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Tgg|G183W|323|PLCXD1|protein_coding|CODING|ENST00000399012|6|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Tgg|G183W|323|PLCXD1|protein_coding|CODING|ENST00000381663|5|T),DOWNSTREAM(MODIFIER||115|||PLCXD1|processed_transcript|CODING|ENST00000484611||T),DOWNSTREAM(MODIFIER||23||173|PLCXD1|protein_coding|CODING|ENST00000430923||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2783||87|PLCXD1|protein_coding|CODING|ENST00000445062||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2865||59|PLCXD1|protein_coding|CODING|ENST00000429181||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2823||73|PLCXD1|protein_coding|CODING|ENST00000443019||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||13||177|PLCXD1|protein_coding|CODING|ENST00000415337||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||23||173|PLCXD1|protein_coding|CODING|ENST00000447472||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||895||123|PLCXD1|protein_coding|CODING|ENST00000448477||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 78789517 Sibling 8A A T . . Gene=IREB2;MT=SNP;MM=DN;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cTt|H882L|963|IREB2|protein_coding|CODING|ENST00000258886|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAt/cTt|H35L|88|IREB2|protein_coding|CODING|ENST00000559091|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||25401||220|IREB2|nonsense_mediated_decay|CODING|ENST00000558570|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 119077190 Sibling 8A G C . . Gene=NKAP;MT=SNP;MM=XL;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R127G|415|NKAP|protein_coding|CODING|ENST00000371410|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 28923439 Sibling 8A G A . . Gene=DSG1;MT=SNP;MM=CM;CADD=23.5;VMM=75.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D572N|1049|DSG1|protein_coding|CODING|ENST00000257192|12|A),UPSTREAM(MODIFIER||155||408|DSG1|protein_coding|CODING|ENST00000462981||A),DOWNSTREAM(MODIFIER||1886|||RNU6-167P|snRNA|NON_CODING|ENST00000384292||A),DOWNSTREAM(MODIFIER||4192|||RP11-534N16.1|antisense|NON_CODING|ENST00000578477||A),EXON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581856|4|A),EXON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000578119|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 28934374 Sibling 8A A G . . Gene=DSG1;MT=SNP;MM=CM;CADD=24.7;VMM=75.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I739V|1049|DSG1|protein_coding|CODING|ENST00000257192|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I98V|408|DSG1|protein_coding|CODING|ENST00000462981|4|G),UPSTREAM(MODIFIER||475|||RP11-534N16.1|antisense|NON_CODING|ENST00000578119||G),EXON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581856|2|G),EXON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000578477|3|G),EXON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581452|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 10197097 Sibling 9A A G . . Gene=UBE4B;MT=SNP;MM=CM;CADD=19.19;VMM=73.67;EFF=DOWNSTREAM(MODIFIER||4559|||UBE4B|processed_transcript|CODING|ENST00000475795||G),INTRON(MODIFIER||||1302|UBE4B|protein_coding|CODING|ENST00000343090|16|G),INTRON(MODIFIER||||1173|UBE4B|protein_coding|CODING|ENST00000253251|15|G),INTRON(MODIFIER||||1061|UBE4B|protein_coding|CODING|ENST00000377157|15|G),INTRON(MODIFIER||||274|UBE4B|protein_coding|CODING|ENST00000470736|6|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||UBE4B|retained_intron|CODING|ENST00000466379|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 10228220 Sibling 9A G C . . Gene=UBE4B;MT=SNP;MM=CM;CADD=29.9;VMM=73.67;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q1075H|1302|UBE4B|protein_coding|CODING|ENST00000343090|24|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q946H|1173|UBE4B|protein_coding|CODING|ENST00000253251|23|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q830H|1061|UBE4B|protein_coding|CODING|ENST00000377157|23|C),UTR_3_PRIME(MODIFIER||1898||97|UBE4B|nonsense_mediated_decay|CODING|ENST00000488228|4|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2794|||UBE4B|retained_intron|CODING|ENST00000487244||C),DOWNSTREAM(MODIFIER||4788|||RNU6-828P|snRNA|NON_CODING|ENST00000364876||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117724018 Sibling 9A T G . . Gene=NOS1;MT=SNP;MM=CM;CADD=15.62;VMM=32.4;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1468|NOS1|protein_coding|CODING||5|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1434|NOS1|protein_coding|CODING||6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D394A|1468|NOS1|protein_coding|CODING|ENST00000338101|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D394A|1434|NOS1|protein_coding|CODING|ENST00000317775|6|G),UTR_3_PRIME(MODIFIER||13||407|NOS1|protein_coding|CODING|ENST00000344089|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117799675 Sibling 9A C T . . Gene=NOS1;MT=SNP;MM=CM;CADD=18.44;VMM=32.4;EFF=UPSTREAM(MODIFIER||93||1434|NOS1|protein_coding|CODING|ENST00000317775||T),UPSTREAM(MODIFIER||93||407|NOS1|protein_coding|CODING|ENST00000344089||T),UPSTREAM(MODIFIER||241|||NOS1|processed_transcript|CODING|ENST00000477584||T),INTRON(MODIFIER|||||NOS1|processed_transcript|CODING|ENST00000549189|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49357286 Sibling 9A A G . . Gene=PLEKHA4;MT=SNP;MM=CM;CADD=22.2;VMM=79.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I385T|779|PLEKHA4|protein_coding|CODING|ENST00000263265|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I360T|583|PLEKHA4|protein_coding|CODING|ENST00000355496|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I40T|125|PLEKHA4|protein_coding|CODING|ENST00000594195|4|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||6019||58|PLEKHA4|protein_coding|CODING|ENST00000595867|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1723|||PLEKHA4|retained_intron|CODING|ENST00000597406||G),DOWNSTREAM(MODIFIER||4832|||PLEKHA4|processed_transcript|CODING|ENST00000596713||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49364921 Sibling 9A C T . . Gene=PLEKHA4;MT=SNP;MM=CM;CADD=27.2;VMM=79.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R74H|779|PLEKHA4|protein_coding|CODING|ENST00000263265|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R74H|583|PLEKHA4|protein_coding|CODING|ENST00000355496|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R29H|199|PLEKHA4|protein_coding|CODING|ENST00000594100|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2282||58|PLEKHA4|protein_coding|CODING|ENST00000595867||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2290||125|PLEKHA4|protein_coding|CODING|ENST00000594195||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1546|||PLEKHA4|processed_transcript|CODING|ENST00000596713||T),INTRON(MODIFIER||||25|PLEKHA4|nonsense_mediated_decay|CODING|ENST00000596982|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152651557 Sibling 9A G A . . Gene=SYNE1;MT=SNP;MM=CM;CADD=24.1;VMM=43.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4755F|8797|SYNE1|protein_coding|CODING|ENST00000265368|78|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4755F|8797|SYNE1|protein_coding|CODING|ENST00000367255|78|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4684F|8749|SYNE1|protein_coding|CODING|ENST00000423061|77|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4502F|8409|SYNE1|protein_coding|CODING|ENST00000341594|81|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4684F|8749|SYNE1|protein_coding|CODING|ENST00000448038|78|A),DOWNSTREAM(MODIFIER||4856|||SYNE1|retained_intron|CODING|ENST00000471834||A),EXON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000490135|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 152772411 Sibling 9A C CA . . Gene=SYNE1;MT=INDEL;MM=CM;CADD=15.64;VMM=43.78;EFF=DOWNSTREAM(MODIFIER||2139||612|SYNE1|protein_coding|CODING|ENST00000495090||CA),DOWNSTREAM(MODIFIER||2140||61|SYNE1|nonsense_mediated_decay|CODING|ENST00000474655||CA|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||8797|SYNE1|protein_coding|CODING|ENST00000265368|25|CA),INTRON(MODIFIER||||8797|SYNE1|protein_coding|CODING|ENST00000367255|25|CA),INTRON(MODIFIER||||8749|SYNE1|protein_coding|CODING|ENST00000423061|25|CA),INTRON(MODIFIER||||8409|SYNE1|protein_coding|CODING|ENST00000341594|28|CA),INTRON(MODIFIER||||8749|SYNE1|protein_coding|CODING|ENST00000448038|26|CA),INTRON(MODIFIER|||||SYNE1|retained_intron|CODING|ENST00000461872|23|CA),INTRON(MODIFIER||||1725|SYNE1|protein_coding|CODING|ENST00000367253|23|CA),INTRON(MODIFIER||||1433|SYNE1|protein_coding|CODING|ENST00000367248|24|CA),INTRON(MODIFIER||||1443|SYNE1|protein_coding|CODING|ENST00000413186|23|CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 24914382 Sibling 10A C T . . Gene=NCOA1;MT=SNP;MM=DN;CADD=39;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1441|NCOA1|protein_coding|CODING|ENST00000348332|7|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1441|NCOA1|protein_coding|CODING|ENST00000406961|9|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1399|NCOA1|protein_coding|CODING|ENST00000405141|10|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R38*|1248|NCOA1|protein_coding|CODING|ENST00000407230|7|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1399|NCOA1|protein_coding|CODING|ENST00000538539|8|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1399|NCOA1|protein_coding|CODING|ENST00000288599|7|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R189*|1440|NCOA1|protein_coding|CODING|ENST00000395856|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31352749 Sibling 11A G T . . Gene=TRPM1;MT=SNP;MM=CM;CADD=26.6;VMM=38.68;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P438T|1642|TRPM1|protein_coding|CODING|ENST00000542188|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P399T|1603|TRPM1|protein_coding|CODING|ENST00000397795|10|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P421T|1625|TRPM1|protein_coding|CODING|ENST00000256552|11|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P323T|1527|TRPM1|protein_coding|CODING|ENST00000558768|8|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ccg/Acg|P399T|1389|TRPM1|protein_coding|CODING|ENST00000558445|10|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SPLICE_SITE_REGION(LOW||||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|8|T),UTR_3_PRIME(MODIFIER||2568||230|TRPM1|nonsense_mediated_decay|CODING|ENST00000560801|8|T),UTR_3_PRIME(MODIFIER||2568||300|TRPM1|nonsense_mediated_decay|CODING|ENST00000560658|10|T),DOWNSTREAM(MODIFIER||4486|||MIR211|miRNA|NON_CODING|ENST00000384969||T),INTRON(MODIFIER||||504|TRPM1|protein_coding|CODING|ENST00000559177|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||TRPM1|retained_intron|CODING|ENST00000558070|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 31394174 Sibling 11A C A . . Gene=TRPM1;MT=SNP;MM=CM;CADD=13.04;VMM=38.68;EFF=UPSTREAM(MODIFIER||264||1603|TRPM1|protein_coding|CODING|ENST00000397795||A),UPSTREAM(MODIFIER||250||1625|TRPM1|protein_coding|CODING|ENST00000256552||A),UPSTREAM(MODIFIER||265||300|TRPM1|nonsense_mediated_decay|CODING|ENST00000560658||A),UPSTREAM(MODIFIER||244||136|TRPM1|protein_coding|CODING|ENST00000559179||A),INTRON(MODIFIER||||1642|TRPM1|protein_coding|CODING|ENST00000542188|1|A),INTRON(MODIFIER||||1389|TRPM1|protein_coding|CODING|ENST00000558445|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||504|TRPM1|protein_coding|CODING|ENST00000559177|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55118288 Sibling 11A G A . . Gene=EML6;MT=SNP;MM=CM;CADD=22.6;VMM=40.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A846T|1958|EML6|protein_coding|CODING|ENST00000356458|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55198839 Sibling 11A CAG C . . Gene=EML6;MT=INDEL;MM=CM;CADD=15.64;VMM=40.73;EFF=UTR_3_PRIME(MODIFIER||1609||1958|EML6|protein_coding|CODING|ENST00000356458|41|C),DOWNSTREAM(MODIFIER||485||1192|RTN4|protein_coding|CODING|ENST00000337526||C),DOWNSTREAM(MODIFIER||386|||EML6|processed_transcript|CODING|ENST00000490828||C),DOWNSTREAM(MODIFIER||3469|||EML6|processed_transcript|CODING|ENST00000472965||C),DOWNSTREAM(MODIFIER||1372|||EML6|processed_transcript|CODING|ENST00000488611||C),DOWNSTREAM(MODIFIER||485||199|RTN4|protein_coding|CODING|ENST00000394609||C),DOWNSTREAM(MODIFIER||485||986|RTN4|protein_coding|CODING|ENST00000405240||C),DOWNSTREAM(MODIFIER||485||986|RTN4|protein_coding|CODING|ENST00000357376||C),DOWNSTREAM(MODIFIER||485||373|RTN4|protein_coding|CODING|ENST00000317610||C),DOWNSTREAM(MODIFIER||485||392|RTN4|protein_coding|CODING|ENST00000357732||C),DOWNSTREAM(MODIFIER||485||986|RTN4|protein_coding|CODING|ENST00000394611||C),DOWNSTREAM(MODIFIER||485||986|RTN4|protein_coding|CODING|ENST00000404909||C),DOWNSTREAM(MODIFIER||881|||RTN4|processed_transcript|CODING|ENST00000486085||C),DOWNSTREAM(MODIFIER||1092|||RTN4|processed_transcript|CODING|ENST00000491592||C),DOWNSTREAM(MODIFIER||1093|||RTN4|processed_transcript|CODING|ENST00000485749||C),DOWNSTREAM(MODIFIER||1110||960|RTN4|protein_coding|CODING|ENST00000354474||C),DOWNSTREAM(MODIFIER||1110||345|RTN4|protein_coding|CODING|ENST00000402434||C),DOWNSTREAM(MODIFIER||1809||202|RTN4|protein_coding|CODING|ENST00000438462||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||EML6|processed_transcript|CODING|ENST00000466608|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 118579599 Sibling 11A A G . . Gene=DDX18;MT=SNP;MM=CM;CADD=14.79;VMM=44.19;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||670|DDX18|protein_coding|CODING||6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I305V|670|DDX18|protein_coding|CODING|ENST00000263239|6|G),UPSTREAM(MODIFIER||124||213|DDX18|protein_coding|CODING|ENST00000415038||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2314|||DDX18|retained_intron|CODING|ENST00000476149||G),UPSTREAM(MODIFIER||2974|||DDX18|retained_intron|CODING|ENST00000461443||G),EXON(MODIFIER|||||DDX18|processed_transcript|CODING|ENST00000474694|7|G),EXON(MODIFIER|||||DDX18|retained_intron|CODING|ENST00000489933|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 118582624 Sibling 11A A C . . Gene=DDX18;MT=SNP;MM=CM;CADD=25.9;VMM=44.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K439Q|670|DDX18|protein_coding|CODING|ENST00000263239|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K103Q|213|DDX18|protein_coding|CODING|ENST00000415038|3|C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||449|||DDX18|processed_transcript|CODING|ENST00000474694||C),DOWNSTREAM(MODIFIER||2268|||DDX18|retained_intron|CODING|ENST00000489933||C),EXON(MODIFIER|||||DDX18|retained_intron|CODING|ENST00000476149|2|C),EXON(MODIFIER|||||DDX18|retained_intron|CODING|ENST00000461443|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 113303632 Sibling 11A A G . . Gene=ALPK1;MT=SNP;MM=CM;CADD=25.7;VMM=107.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q67R|1244|ALPK1|protein_coding|CODING|ENST00000177648|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q67R|1244|ALPK1|protein_coding|CODING|ENST00000458497|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q67R|304|ALPK1|nonsense_mediated_decay|CODING|ENST00000505127|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q67R|168|ALPK1|nonsense_mediated_decay|CODING|ENST00000515330|4|G),UPSTREAM(MODIFIER||28|||ALPK1|retained_intron|CODING|ENST00000504745||G),INTRON(MODIFIER||||1166|ALPK1|protein_coding|CODING|ENST00000504176|3|G),INTRON(MODIFIER||||133|ALPK1|nonsense_mediated_decay|CODING|ENST00000509722|3|G),INTRON(MODIFIER||||109|ALPK1|nonsense_mediated_decay|CODING|ENST00000515106|3|G),EXON(MODIFIER|||||ALPK1|retained_intron|CODING|ENST00000509688|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 113356306 Sibling 11A G A . . Gene=ALPK1;MT=SNP;MM=CM;CADD=29.4;VMM=107.46;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gct/Act|A1013T|1244|ALPK1|protein_coding|CODING|ENST00000177648|12|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gct/Act|A1013T|1244|ALPK1|protein_coding|CODING|ENST00000458497|12|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gct/Act|A935T|1166|ALPK1|protein_coding|CODING|ENST00000504176|11|A),SPLICE_SITE_REGION(LOW||||133|ALPK1|nonsense_mediated_decay|CODING|ENST00000509722|11|A),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|V301|304|ALPK1|nonsense_mediated_decay|CODING|ENST00000505127|11|A),SPLICE_SITE_REGION+EXON(LOW|||||ALPK1|retained_intron|CODING|ENST00000504745|8|A),UTR_3_PRIME(MODIFIER||9464||133|ALPK1|nonsense_mediated_decay|CODING|ENST00000509722|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 45477815 Sibling 12A C A . . Gene=CLPTM1;MT=SNP;MM=DN;CADD=25.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D143E|669|CLPTM1|protein_coding|CODING|ENST00000337392|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D41E|567|CLPTM1|protein_coding|CODING|ENST00000546079|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D129E|655|CLPTM1|protein_coding|CODING|ENST00000541297|4|A),DOWNSTREAM(MODIFIER||68||17|CLPTM1|protein_coding|CODING|ENST00000585961||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||170|CLPTM1|protein_coding|CODING|ENST00000591304|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||CLPTM1|retained_intron|CODING|ENST00000588855|4|A),EXON(MODIFIER|||||CLPTM1|retained_intron|CODING|ENST00000587537|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 130994655 Sibling 12A T A . . Gene=FNIP1;MT=SNP;MM=CM;CADD=16.82;VMM=69.12;EFF=INTRON(MODIFIER||||1651|CTC-432M15.3|protein_coding|CODING|ENST00000514667|2|A),INTRON(MODIFIER||||1166|FNIP1|protein_coding|CODING|ENST00000510461|15|A),INTRON(MODIFIER||||1138|FNIP1|protein_coding|CODING|ENST00000307968|14|A),INTRON(MODIFIER||||1121|FNIP1|protein_coding|CODING|ENST00000307954|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 131008584 Sibling 12A C T . . Gene=FNIP1;MT=SNP;MM=CM;CADD=33;VMM=69.12;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R518Q|1166|FNIP1|protein_coding|CODING|ENST00000510461|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R490Q|1138|FNIP1|protein_coding|CODING|ENST00000307968|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R473Q|1121|FNIP1|protein_coding|CODING|ENST00000307954|13|T),DOWNSTREAM(MODIFIER||4706||508|FNIP1|protein_coding|CODING|ENST00000511848||T),INTRON(MODIFIER||||1651|CTC-432M15.3|protein_coding|CODING|ENST00000514667|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 108032227 Sibling 13A G A . . Gene=NPAT;MT=SNP;MM=DN;CADD=36;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R1196*|1427|NPAT|protein_coding|CODING|ENST00000278612|17|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R194*|297|NPAT|protein_coding|CODING|ENST00000527296|2|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||NPAT|retained_intron|CODING|ENST00000530926|1|A),EXON(MODIFIER|||||NPAT|retained_intron|CODING|ENST00000530859|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 2838762 Sibling 13A T C . . Gene=ARSD;MT=SNP;MM=XL;CADD=21.9;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Atg/Gtg|M107V|593|ARSD|protein_coding|CODING|ENST00000381154|4|C),SPLICE_SITE_REGION+EXON(LOW|||||ARSD|processed_transcript|CODING|ENST00000217890|4|C),SPLICE_SITE_REGION+EXON(LOW|||||ARSD|retained_intron|CODING|ENST00000494870|4|C),SPLICE_SITE_REGION(LOW||||82|ARSD|nonsense_mediated_decay|CODING|ENST00000559324|5|C),UTR_3_PRIME(MODIFIER||2531||82|ARSD|nonsense_mediated_decay|CODING|ENST00000559324|5|C),UPSTREAM(MODIFIER||2843|||ARSD|processed_transcript|CODING|ENST00000481340||C),INTRON(MODIFIER|||||ARSD|processed_transcript|CODING|ENST00000495294|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 106819663 Sibling 13A C T . . Gene=PIH1D3(dist=332190),KIAA1817(dist=23972);MT=SNP;MM=XL;CADD=29.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P505L|1810|FRMPD3|protein_coding|CODING|ENST00000276185|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P453L|1758|FRMPD3|protein_coding|CODING|ENST00000439554|12|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 48184124 Sibling 13A G C . . Gene=HDAC7;MT=SNP;MM=CM;CADD=17.14;VMM=35.21;EFF=UPSTREAM(MODIFIER||4960|||HDAC7|processed_transcript|CODING|ENST00000549883||C),UPSTREAM(MODIFIER||3674||109|HDAC7|nonsense_mediated_decay|CODING|ENST00000547259||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2172|||HDAC7|retained_intron|CODING|ENST00000471235||C),DOWNSTREAM(MODIFIER||4337||140|AC004466.1|protein_coding|CODING|ENST00000599515||C),DOWNSTREAM(MODIFIER||36|||HDAC7|processed_transcript|CODING|ENST00000477937||C),DOWNSTREAM(MODIFIER||4466|||HDAC7|retained_intron|CODING|ENST00000491464||C),DOWNSTREAM(MODIFIER||4495|||HDAC7|retained_intron|CODING|ENST00000463732||C),DOWNSTREAM(MODIFIER||4528||152|HDAC7|nonsense_mediated_decay|CODING|ENST00000485796||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1014|HDAC7|protein_coding|CODING|ENST00000380610|16|C),INTRON(MODIFIER||||991|HDAC7|protein_coding|CODING|ENST00000080059|16|C),INTRON(MODIFIER||||954|HDAC7|protein_coding|CODING|ENST00000354334|15|C),INTRON(MODIFIER||||60|HDAC7|nonsense_mediated_decay|CODING|ENST00000548938|5|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||HDAC7|retained_intron|CODING|ENST00000470668|11|C),INTRON(MODIFIER||||383|HDAC7|protein_coding|CODING|ENST00000548080|3|C),INTRON(MODIFIER||||974|HDAC7|protein_coding|CODING|ENST00000552960|15|C),INTRON(MODIFIER||||224|HDAC7|nonsense_mediated_decay|CODING|ENST00000477203|13|C),INTRON(MODIFIER||||952|HDAC7|protein_coding|CODING|ENST00000427332|16|C),INTRON(MODIFIER|||||HDAC7|processed_transcript|CODING|ENST00000488927|3|C),EXON(MODIFIER|||||HDAC7|retained_intron|CODING|ENST00000459625|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 48189754 Sibling 13A G T . . Gene=HDAC7;MT=SNP;MM=CM;CADD=18.04;VMM=35.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P298T|1014|HDAC7|protein_coding|CODING|ENST00000380610|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P281T|991|HDAC7|protein_coding|CODING|ENST00000080059|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P264T|974|HDAC7|protein_coding|CODING|ENST00000552960|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P242T|952|HDAC7|protein_coding|CODING|ENST00000427332|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Acg|P125T|152|HDAC7|nonsense_mediated_decay|CODING|ENST00000485796|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2473|||HDAC7|retained_intron|CODING|ENST00000459625||T),UPSTREAM(MODIFIER||2429||60|HDAC7|nonsense_mediated_decay|CODING|ENST00000548938||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3967||383|HDAC7|protein_coding|CODING|ENST00000548080||T),UPSTREAM(MODIFIER||3971|||HDAC7|processed_transcript|CODING|ENST00000488927||T),UPSTREAM(MODIFIER||2585|||HDAC7|processed_transcript|CODING|ENST00000477937||T),UPSTREAM(MODIFIER||367|||HDAC7|retained_intron|CODING|ENST00000491464||T),UPSTREAM(MODIFIER||121|||HDAC7|retained_intron|CODING|ENST00000463732||T),DOWNSTREAM(MODIFIER||1136||140|HDAC7|protein_coding|CODING|ENST00000422254||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1147||158|HDAC7|protein_coding|CODING|ENST00000440293||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1169||153|HDAC7|protein_coding|CODING|ENST00000447463||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1413||152|HDAC7|protein_coding|CODING|ENST00000434070||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1459||137|HDAC7|protein_coding|CODING|ENST00000421231||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2143||111|HDAC7|protein_coding|CODING|ENST00000450805||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2147||132|HDAC7|protein_coding|CODING|ENST00000417902||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2217||87|HDAC7|protein_coding|CODING|ENST00000433685||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2589||77|HDAC7|protein_coding|CODING|ENST00000417107||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2669||50|HDAC7|protein_coding|CODING|ENST00000445237||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||954|HDAC7|protein_coding|CODING|ENST00000354334|8|T),INTRON(MODIFIER|||||HDAC7|retained_intron|CODING|ENST00000470668|4|T),INTRON(MODIFIER||||224|HDAC7|nonsense_mediated_decay|CODING|ENST00000477203|6|T),INTRON(MODIFIER||||101|HDAC7|nonsense_mediated_decay|CODING|ENST00000425451|4|T),INTRON(MODIFIER||||273|HDAC7|protein_coding|CODING|ENST00000430670|8|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 76803183 Sibling 13A G A . . Gene=USP36;MT=SNP;MM=CM;CADD=22.9;VMM=45.56;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A648V|1123|USP36|protein_coding|CODING|ENST00000312010|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A648V|1123|USP36|nonsense_mediated_decay|CODING|ENST00000589225|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A648V|1123|USP36|protein_coding|CODING|ENST00000542802|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A348V|728|USP36|protein_coding|CODING|ENST00000449938|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A648V|960|USP36|non_stop_decay|CODING|ENST00000588086|14|A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||512|||USP36|processed_transcript|CODING|ENST00000588467||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 76817121 Sibling 13A G A . . Gene=USP36;MT=SNP;MM=CM;CADD=16.91;VMM=45.56;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S260|1123|USP36|protein_coding|CODING|ENST00000312010|8|A),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S260|1123|USP36|nonsense_mediated_decay|CODING|ENST00000589225|8|A),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S260|1123|USP36|protein_coding|CODING|ENST00000542802|8|A),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S260|960|USP36|non_stop_decay|CODING|ENST00000588086|8|A|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S50|258|USP36|protein_coding|CODING|ENST00000586066|5|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||1099||728|USP36|protein_coding|CODING|ENST00000449938|2|A),UPSTREAM(MODIFIER||1942|||USP36|processed_transcript|CODING|ENST00000588467||A),UPSTREAM(MODIFIER||2096|||USP36|retained_intron|CODING|ENST00000590312||A),DOWNSTREAM(MODIFIER||2083||234|USP36|protein_coding|CODING|ENST00000589424||A),EXON(MODIFIER|||||USP36|retained_intron|CODING|ENST00000589254|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 20579393 Sibling 13A C T . . Gene=RALGAPA2;MT=SNP;MM=CM;CADD=19.79;VMM=42.43;EFF=DOWNSTREAM(MODIFIER||35|||RALGAPA2|processed_transcript|CODING|ENST00000495793||T),INTRON(MODIFIER||||1873|RALGAPA2|protein_coding|CODING|ENST00000202677|16|T),INTRON(MODIFIER||||1739|RALGAPA2|protein_coding|CODING|ENST00000430436|10|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 20579582 Sibling 13A C T . . Gene=RALGAPA2;MT=SNP;MM=CM;CADD=18.33;VMM=42.43;EFF=INTRON(MODIFIER||||1873|RALGAPA2|protein_coding|CODING|ENST00000202677|16|T),INTRON(MODIFIER||||1739|RALGAPA2|protein_coding|CODING|ENST00000430436|10|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||RALGAPA2|processed_transcript|CODING|ENST00000495793|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 34457175 Sibling 13A G A . . Gene=PHF20;MT=SNP;MM=CM;CADD=15.18;VMM=37.71;EFF=UPSTREAM(MODIFIER||277|||PHF20|retained_intron|CODING|ENST00000485604||A),INTRON(MODIFIER||||1012|PHF20|protein_coding|CODING|ENST00000374012|6|A),INTRON(MODIFIER||||272|PHF20|protein_coding|CODING|ENST00000439301|7|A),INTRON(MODIFIER||||542|PHF20|protein_coding|CODING|ENST00000339089|7|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||PHF20|processed_transcript|CODING|ENST00000481202|5|A),INTRON(MODIFIER||||548|PHF20|protein_coding|CODING|ENST00000374000|7|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||PHF20|processed_transcript|CODING|ENST00000486408|3|A),INTRON(MODIFIER|||||PHF20|processed_transcript|CODING|ENST00000495338|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 34538154 Sibling 13A C G . . Gene=PHF20;MT=SNP;MM=CM;CADD=21.8;VMM=37.71;EFF=UTR_3_PRIME(MODIFIER||2605||1012|PHF20|protein_coding|CODING|ENST00000374012|18|G),UTR_3_PRIME(MODIFIER||80719||272|PHF20|protein_coding|CODING|ENST00000439301|19|G),DOWNSTREAM(MODIFIER||3385||179|SCAND1|protein_coding|CODING|ENST00000305978||G),DOWNSTREAM(MODIFIER||3397||179|SCAND1|protein_coding|CODING|ENST00000373991||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 151851438 Sibling 13A T C . . Gene=KMT2C;MT=SNP;MM=CM;CADD=26.7;VMM=33.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y4075C|4968|KMT2C|protein_coding|CODING|ENST00000355193|48|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1578C|2440|KMT2C|protein_coding|CODING|ENST00000360104|11|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y4018C|4911|KMT2C|protein_coding|CODING|ENST00000262189|47|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y635C|1524|KMT2C|protein_coding|CODING|ENST00000424877|6|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y144C|235|KMT2C|protein_coding|CODING|ENST00000418061|4|C|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||93601||825|KMT2C|nonsense_mediated_decay|CODING|ENST00000558084|47|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||KMT2C|retained_intron|CODING|ENST00000473186|34|C),EXON(MODIFIER|||||KMT2C|processed_transcript|CODING|ENST00000485241|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 152104478 Sibling 13A C T . . Gene=KMT2C;MT=SNP;MM=CM;CADD=11.49;VMM=33.03;EFF=DOWNSTREAM(MODIFIER||4500|||Y_RNA|misc_RNA|NON_CODING|ENST00000517279||T),INTRON(MODIFIER||||4968|KMT2C|protein_coding|CODING|ENST00000355193|1|T),INTRON(MODIFIER||||4911|KMT2C|protein_coding|CODING|ENST00000262189|1|T),INTRON(MODIFIER||||825|KMT2C|nonsense_mediated_decay|CODING|ENST00000558084|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||154|KMT2C|protein_coding|CODING|ENST00000452749|1|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 100405634 Sibling 13A G A . . Gene=NCBP1;MT=SNP;MM=CM;CADD=23.1;VMM=33.47;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||790|NCBP1|protein_coding|CODING||4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V125M|790|NCBP1|protein_coding|CODING|ENST00000375147|4|A),INTRON(MODIFIER||||82|NCBP1|nonsense_mediated_decay|CODING|ENST00000478100|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 100408229 Sibling 13A T C . . Gene=NCBP1;MT=SNP;MM=CM;CADD=13.09;VMM=33.47;EFF=NEXT_PROT[cross-link:Glycyl_lysine_isopeptide__Lys-Gly___interchain_with_G-Cter_in_ubiquitin_](MODERATE||||790|NCBP1|protein_coding|CODING||6|C),NEXT_PROT[modified-residue:N6-acetyllysine](MODERATE||||790|NCBP1|protein_coding|CODING||6|C),INTRON(MODIFIER||||790|NCBP1|protein_coding|CODING|ENST00000375147|6|C),INTRON(MODIFIER||||82|NCBP1|nonsense_mediated_decay|CODING|ENST00000478100|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 11354265 Sibling 14A GT G . . Gene=GALNT18;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||tac/|Y464|607|GALNT18|protein_coding|CODING|ENST00000227756|8|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 131207052 Sibling 14A C T . . Gene=MST4;MT=SNP;MM=XL;CADD=21.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A408V|438|MST4|protein_coding|CODING|ENST00000481105|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A386V|416|MST4|protein_coding|CODING|ENST00000394334|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A362V|392|MST4|protein_coding|CODING|ENST00000354719|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A309V|339|MST4|protein_coding|CODING|ENST00000394335|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gTt|A324V|354|MST4|protein_coding|CODING|ENST00000496850|9|T),DOWNSTREAM(MODIFIER||3971||714|FRMD7|protein_coding|CODING|ENST00000298542||T),DOWNSTREAM(MODIFIER||3969||594|FRMD7|protein_coding|CODING|ENST00000370879||T),DOWNSTREAM(MODIFIER||4848||699|FRMD7|protein_coding|CODING|ENST00000464296||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201759624 Sibling 14A C T . . Gene=NAV1;MT=SNP;MM=CM;CADD=15.26;VMM=43.43;EFF=INTRON(MODIFIER||||1877|NAV1|protein_coding|CODING|ENST00000367296|11|T),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000413035|2|T),INTRON(MODIFIER||||1830|NAV1|protein_coding|CODING|ENST00000367302|12|T),INTRON(MODIFIER||||1874|NAV1|protein_coding|CODING|ENST00000295624|11|T),INTRON(MODIFIER||||1869|NAV1|protein_coding|CODING|ENST00000367297|11|T),INTRON(MODIFIER||||1817|NAV1|protein_coding|CODING|ENST00000367300|10|T),INTRON(MODIFIER|||||NAV1|processed_transcript|CODING|ENST00000490213|9|T),INTRON(MODIFIER||||1483|NAV1|protein_coding|CODING|ENST00000367295|9|T),INTRON(MODIFIER||||753|NAV1|protein_coding|CODING|ENST00000430015|8|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||NAV1|processed_transcript|CODING|ENST00000469130|6|T),INTRON(MODIFIER||||225|NAV1|protein_coding|CODING|ENST00000438083|2|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||26|NAV1|nonsense_mediated_decay|CODING|ENST00000477118|4|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201779668 Sibling 14A G A . . Gene=NAV1;MT=SNP;MM=CM;CADD=24.6;VMM=43.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1527I|1877|NAV1|protein_coding|CODING|ENST00000367296|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1480I|1830|NAV1|protein_coding|CODING|ENST00000367302|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1524I|1874|NAV1|protein_coding|CODING|ENST00000295624|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1519I|1869|NAV1|protein_coding|CODING|ENST00000367297|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1467I|1817|NAV1|protein_coding|CODING|ENST00000367300|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1133I|1483|NAV1|protein_coding|CODING|ENST00000367295|21|A),DOWNSTREAM(MODIFIER||1838|||MIR1231|miRNA|NON_CODING|ENST00000408101||A),DOWNSTREAM(MODIFIER||2495||225|NAV1|protein_coding|CODING|ENST00000438083||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000413035|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 31618745 Sibling 14A A G . . Gene=ASIC2;MT=SNP;MM=CM;CADD=27.4;VMM=34.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTc/tCc|F130S|563|ASIC2|protein_coding|CODING|ENST00000225823|1|G),UPSTREAM(MODIFIER||286|||ASIC2|processed_transcript|CODING|ENST00000448983||G),UPSTREAM(MODIFIER||620|||ASIC2|processed_transcript|CODING|ENST00000579816||G),INTRON(MODIFIER||||512|ASIC2|protein_coding|CODING|ENST00000359872|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 32366082 Sibling 14A G C . . Gene=ASIC2;MT=SNP;MM=CM;CADD=11.59;VMM=34.29;EFF=INTRON(MODIFIER||||512|ASIC2|protein_coding|CODING|ENST00000359872|1|C),EXON(MODIFIER|||||TLK2P1|processed_pseudogene|NON_CODING|ENST00000530992|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 14297224 Sibling 14A G A . . Gene=TRIO;MT=SNP;MM=CM;CADD=34;VMM=115.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R407H|3097|TRIO|protein_coding|CODING|ENST00000344204|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R407H|2921|TRIO|protein_coding|CODING|ENST00000537187|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R348H|2309|TRIO|nonsense_mediated_decay|CODING|ENST00000512070|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R358H|1508|TRIO|protein_coding|CODING|ENST00000509967|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R140H|2546|TRIO|protein_coding|CODING|ENST00000513206|3|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000504606|3|A),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000515144|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 14465708 Sibling 14A G A . . Gene=TRIO;MT=SNP;MM=CM;CADD=23.6;VMM=115.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1908K|3097|TRIO|protein_coding|CODING|ENST00000344204|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1908K|2921|TRIO|protein_coding|CODING|ENST00000537187|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1849K|2309|TRIO|nonsense_mediated_decay|CODING|ENST00000512070|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1641K|2546|TRIO|protein_coding|CODING|ENST00000513206|33|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||TRIO|retained_intron|CODING|ENST00000515144|32|A),EXON(MODIFIER|||||TRIO|processed_transcript|CODING|ENST00000515710|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 4839339 Sibling 14A G A . . Gene=RADIL;MT=SNP;MM=CM;CADD=26.2;VMM=88.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A1015V|1075|RADIL|protein_coding|CODING|ENST00000399583|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A775V|835|RADIL|protein_coding|CODING|ENST00000538469|13|A),UTR_3_PRIME(MODIFIER||35086||407|RADIL|nonsense_mediated_decay|CODING|ENST00000445392|14|A),UTR_3_PRIME(MODIFIER||16696||542|RADIL|protein_coding|CODING|ENST00000536091|13|A),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000472999|4|A),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000473130|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 4854949 Sibling 14A G A . . Gene=RADIL;MT=SNP;MM=CM;CADD=24.8;VMM=88.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T700I|1075|RADIL|protein_coding|CODING|ENST00000399583|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T460I|835|RADIL|protein_coding|CODING|ENST00000538469|8|A),UTR_3_PRIME(MODIFIER||19476||407|RADIL|nonsense_mediated_decay|CODING|ENST00000445392|9|A),UTR_3_PRIME(MODIFIER||1086||542|RADIL|protein_coding|CODING|ENST00000536091|8|A),UPSTREAM(MODIFIER||4029|||Y_RNA|misc_RNA|NON_CODING|ENST00000384168||A),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000473130|5|A),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000469399|1|A),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000484211|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 22873214 Sibling 14A G A . . Gene=RHOBTB2;MT=SNP;MM=CM;CADD=33;VMM=35.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V664M|749|RHOBTB2|protein_coding|CODING|ENST00000519685|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V649M|734|RHOBTB2|protein_coding|CODING|ENST00000522948|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V642M|727|RHOBTB2|protein_coding|CODING|ENST00000251822|9|A),DOWNSTREAM(MODIFIER||4432||440|TNFRSF10B|protein_coding|CODING|ENST00000276431||A),DOWNSTREAM(MODIFIER||4432|||TNFRSF10B|retained_intron|CODING|ENST00000523752||A),INTRON(MODIFIER|||||RP11-875O11.1|antisense|NON_CODING|ENST00000502083|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 22877681 Sibling 14A G A . . Gene=RHOBTB2;MT=SNP;MM=CM;CADD=10.36;VMM=35.65;EFF=UTR_3_PRIME(MODIFIER||2503||440|TNFRSF10B|protein_coding|CODING|ENST00000276431|9|A),UTR_3_PRIME(MODIFIER||2699||734|RHOBTB2|protein_coding|CODING|ENST00000522948|10|A),UTR_3_PRIME(MODIFIER||2699||727|RHOBTB2|protein_coding|CODING|ENST00000251822|10|A),UPSTREAM(MODIFIER||833|||RP11-875O11.1|antisense|NON_CODING|ENST00000502083||A),DOWNSTREAM(MODIFIER||1727||749|RHOBTB2|protein_coding|CODING|ENST00000519685||A),DOWNSTREAM(MODIFIER||2143||411|TNFRSF10B|protein_coding|CODING|ENST00000347739||A),DOWNSTREAM(MODIFIER||2306||90|TNFRSF10B|nonsense_mediated_decay|CODING|ENST00000523504||A),DOWNSTREAM(MODIFIER||2306||260|TNFRSF10B|protein_coding|CODING|ENST00000542226||A),DOWNSTREAM(MODIFIER||2718|||TNFRSF10B|retained_intron|CODING|ENST00000520109||A),EXON(MODIFIER|||||TNFRSF10B|retained_intron|CODING|ENST00000523752|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 139749229 Sibling 14A C T . . Gene=MAMDC4;MT=SNP;MM=CM;CADD=22.2;VMM=78.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S317F|1216|MAMDC4|protein_coding|CODING|ENST00000445819|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S317F|1137|MAMDC4|protein_coding|CODING|ENST00000317446|9|T),UPSTREAM(MODIFIER||782|||MAMDC4|processed_transcript|CODING|ENST00000481327||T),UPSTREAM(MODIFIER||2228||236|MAMDC4|nonsense_mediated_decay|CODING|ENST00000479475||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3755||125|PHPT1|protein_coding|CODING|ENST00000247665||T),DOWNSTREAM(MODIFIER||3755||124|PHPT1|protein_coding|CODING|ENST00000371661||T),DOWNSTREAM(MODIFIER||3741||124|PHPT1|protein_coding|CODING|ENST00000545326||T),DOWNSTREAM(MODIFIER||3755|||PHPT1|processed_transcript|CODING|ENST00000492540||T),DOWNSTREAM(MODIFIER||3753|||PHPT1|processed_transcript|CODING|ENST00000462205||T),DOWNSTREAM(MODIFIER||3750|||PHPT1|processed_transcript|CODING|ENST00000497413||T),DOWNSTREAM(MODIFIER||3755|||PHPT1|processed_transcript|CODING|ENST00000463215||T),INTRON(MODIFIER|||||MAMDC4|processed_transcript|CODING|ENST00000485732|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 139753562 Sibling 14A T G . . Gene=MAMDC4;MT=SNP;MM=CM;CADD=26.9;VMM=78.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTa/gGa|V1100G|1216|MAMDC4|protein_coding|CODING|ENST00000445819|26|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTa/gGa|V1021G|1137|MAMDC4|protein_coding|CODING|ENST00000317446|24|G),UTR_3_PRIME(MODIFIER||950||236|MAMDC4|nonsense_mediated_decay|CODING|ENST00000479475|6|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3009||148|EDF1|protein_coding|CODING|ENST00000224073||G),DOWNSTREAM(MODIFIER||2891|||MAMDC4|processed_transcript|CODING|ENST00000481327||G),DOWNSTREAM(MODIFIER||3009||141|EDF1|protein_coding|CODING|ENST00000371649||G),DOWNSTREAM(MODIFIER||3380||139|EDF1|protein_coding|CODING|ENST00000371648||G),EXON(MODIFIER|||||MAMDC4|processed_transcript|CODING|ENST00000485732|22|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 44724090 Sibling 15A T G . . Gene=GNPDA2;MT=SNP;MM=HM;CADD=15.96;VMM=0;EFF=INTRON(MODIFIER||||276|GNPDA2|protein_coding|CODING|ENST00000295448|2|G),INTRON(MODIFIER||||242|GNPDA2|protein_coding|CODING|ENST00000507917|2|G),INTRON(MODIFIER||||206|GNPDA2|protein_coding|CODING|ENST00000507534|1|G),INTRON(MODIFIER||||259|GNPDA2|protein_coding|CODING|ENST00000509756|2|G),INTRON(MODIFIER|||||GNPDA2|processed_transcript|CODING|ENST00000511187|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 28370205 Sibling 15A T G . . Gene=HERC2;MT=SNP;MM=CM;CADD=32;VMM=104.82;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||4834|HERC2|protein_coding|CODING||84|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T4313P|4834|HERC2|protein_coding|CODING|ENST00000261609|84|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 28538139 Sibling 15A T G . . Gene=HERC2;MT=SNP;MM=CM;CADD=23.3;VMM=104.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K73Q|4834|HERC2|protein_coding|CODING|ENST00000261609|4|G),UTR_3_PRIME(MODIFIER||5581||80|HERC2|nonsense_mediated_decay|CODING|ENST00000564734|5|G),EXON(MODIFIER|||||HERC2|retained_intron|CODING|ENST00000564383|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 21133339 Sibling 15A G A . . Gene=DNAH3;MT=SNP;MM=CM;CADD=23.1;VMM=49.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S504F|4116|DNAH3|protein_coding|CODING|ENST00000261383|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S504F|1887|DNAH3|protein_coding|CODING|ENST00000415178|10|A),INTRON(MODIFIER|||||CTC-508F8.1|antisense|NON_CODING|ENST00000575612|1|A),EXON(MODIFIER|||||DNAH3|retained_intron|CODING|ENST00000396036|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 21139137 Sibling 15A C A . . Gene=DNAH3;MT=SNP;MM=CM;CADD=17.87;VMM=49.32;EFF=SPLICE_SITE_REGION+INTRON(LOW||||4116|DNAH3|protein_coding|CODING|ENST00000261383|7|A),SPLICE_SITE_REGION+INTRON(LOW||||1887|DNAH3|protein_coding|CODING|ENST00000415178|7|A),SPLICE_SITE_REGION+INTRON(LOW|||||DNAH3|retained_intron|CODING|ENST00000396036|8|A),INTRON(MODIFIER|||||CTC-508F8.1|antisense|NON_CODING|ENST00000575612|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 61775264 Sibling 15A C A . . Gene=LIMD2;MT=SNP;MM=CM;CADD=16.98;VMM=31.85;EFF=UTR_3_PRIME(MODIFIER||648||127|LIMD2|protein_coding|CODING|ENST00000259006|5|A),UTR_3_PRIME(MODIFIER||648||127|LIMD2|protein_coding|CODING|ENST00000578402|5|A),UTR_3_PRIME(MODIFIER||648||78|LIMD2|protein_coding|CODING|ENST00000583211|5|A),DOWNSTREAM(MODIFIER||1601||657|MAP3K3|protein_coding|CODING|ENST00000361357||A),DOWNSTREAM(MODIFIER||4941||53|RP11-51F16.8|nonsense_mediated_decay|CODING|ENST00000580553||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4961||431|STRADA|protein_coding|CODING|ENST00000336174||A),DOWNSTREAM(MODIFIER||2815||657|MAP3K3|protein_coding|CODING|ENST00000579585||A),DOWNSTREAM(MODIFIER||3944||653|MAP3K3|protein_coding|CODING|ENST00000584573||A),DOWNSTREAM(MODIFIER||2799||626|MAP3K3|protein_coding|CODING|ENST00000361733||A),DOWNSTREAM(MODIFIER||4030||622|MAP3K3|protein_coding|CODING|ENST00000577395||A),DOWNSTREAM(MODIFIER||4030||56|MAP3K3|nonsense_mediated_decay|CODING|ENST00000577597||A),DOWNSTREAM(MODIFIER||285||78|LIMD2|nonsense_mediated_decay|CODING|ENST00000580222||A),DOWNSTREAM(MODIFIER||352|||LIMD2|retained_intron|CODING|ENST00000579329||A),DOWNSTREAM(MODIFIER||385||127|LIMD2|protein_coding|CODING|ENST00000578061||A),DOWNSTREAM(MODIFIER||431||87|LIMD2|protein_coding|CODING|ENST00000578993||A),DOWNSTREAM(MODIFIER||563|||LIMD2|retained_intron|CODING|ENST00000579814||A),DOWNSTREAM(MODIFIER||574||78|LIMD2|protein_coding|CODING|ENST00000582055||A),DOWNSTREAM(MODIFIER||594|||LIMD2|retained_intron|CODING|ENST00000578297||A),DOWNSTREAM(MODIFIER||705||108|LIMD2|protein_coding|CODING|ENST00000584645||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4928||234|STRADA|protein_coding|CODING|ENST00000245865||A),DOWNSTREAM(MODIFIER||4928||373|STRADA|protein_coding|CODING|ENST00000375840||A),DOWNSTREAM(MODIFIER||4936|||STRADA|retained_intron|CODING|ENST00000583085||A),DOWNSTREAM(MODIFIER||4938||348|STRADA|protein_coding|CODING|ENST00000392950||A),EXON(MODIFIER|||||LIMD2|retained_intron|CODING|ENST00000578067|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 61775387 Sibling 15A T G . . Gene=LIMD2;MT=SNP;MM=CM;CADD=16.68;VMM=31.85;EFF=MOTIF[MA0079.1:SP1](MODIFIER||||||||||G),UTR_3_PRIME(MODIFIER||525||127|LIMD2|protein_coding|CODING|ENST00000259006|5|G),UTR_3_PRIME(MODIFIER||525||127|LIMD2|protein_coding|CODING|ENST00000578402|5|G),UTR_3_PRIME(MODIFIER||525||78|LIMD2|protein_coding|CODING|ENST00000583211|5|G),DOWNSTREAM(MODIFIER||1724||657|MAP3K3|protein_coding|CODING|ENST00000361357||G),DOWNSTREAM(MODIFIER||4818||53|RP11-51F16.8|nonsense_mediated_decay|CODING|ENST00000580553||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4838||431|STRADA|protein_coding|CODING|ENST00000336174||G),DOWNSTREAM(MODIFIER||2938||657|MAP3K3|protein_coding|CODING|ENST00000579585||G),DOWNSTREAM(MODIFIER||4067||653|MAP3K3|protein_coding|CODING|ENST00000584573||G),DOWNSTREAM(MODIFIER||2922||626|MAP3K3|protein_coding|CODING|ENST00000361733||G),DOWNSTREAM(MODIFIER||4153||622|MAP3K3|protein_coding|CODING|ENST00000577395||G),DOWNSTREAM(MODIFIER||4153||56|MAP3K3|nonsense_mediated_decay|CODING|ENST00000577597||G),DOWNSTREAM(MODIFIER||162||78|LIMD2|nonsense_mediated_decay|CODING|ENST00000580222||G),DOWNSTREAM(MODIFIER||229|||LIMD2|retained_intron|CODING|ENST00000579329||G),DOWNSTREAM(MODIFIER||262||127|LIMD2|protein_coding|CODING|ENST00000578061||G),DOWNSTREAM(MODIFIER||308||87|LIMD2|protein_coding|CODING|ENST00000578993||G),DOWNSTREAM(MODIFIER||440|||LIMD2|retained_intron|CODING|ENST00000579814||G),DOWNSTREAM(MODIFIER||451||78|LIMD2|protein_coding|CODING|ENST00000582055||G),DOWNSTREAM(MODIFIER||471|||LIMD2|retained_intron|CODING|ENST00000578297||G),DOWNSTREAM(MODIFIER||582||108|LIMD2|protein_coding|CODING|ENST00000584645||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4805||234|STRADA|protein_coding|CODING|ENST00000245865||G),DOWNSTREAM(MODIFIER||4805||373|STRADA|protein_coding|CODING|ENST00000375840||G),DOWNSTREAM(MODIFIER||4813|||STRADA|retained_intron|CODING|ENST00000583085||G),DOWNSTREAM(MODIFIER||4815||348|STRADA|protein_coding|CODING|ENST00000392950||G),EXON(MODIFIER|||||LIMD2|retained_intron|CODING|ENST00000578067|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 137300061 Sibling 15A G A . . Gene=RXRA;MT=SNP;MM=CM;CADD=18.64;VMM=37.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V116I|462|RXRA|protein_coding|CODING|ENST00000481739|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V19I|365|RXRA|protein_coding|CODING|ENST00000540193|2|A),DOWNSTREAM(MODIFIER||1821|||RXRA|processed_transcript|CODING|ENST00000484822||A),EXON(MODIFIER|||||RXRA|processed_transcript|CODING|ENST00000356384|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 137332011 Sibling 15A C G . . Gene=RXRA;MT=SNP;MM=CM;CADD=17.53;VMM=37.53;EFF=DOWNSTREAM(MODIFIER||3146||462|RXRA|protein_coding|CODING|ENST00000481739||G),DOWNSTREAM(MODIFIER||3151||365|RXRA|protein_coding|CODING|ENST00000540193||G),EXON(MODIFIER|||||RXRA|processed_transcript|CODING|ENST00000356384|12|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 44916445 Sibling 16A T C . . Gene=PURB;MT=SNP;MM=DN;CADD=15.09;VMM=0;EFF=UTR_3_PRIME(MODIFIER||7564||312|PURB|protein_coding|CODING|ENST00000395699|1|C),DOWNSTREAM(MODIFIER||4902|||MIR4657|miRNA|NON_CODING|ENST00000578157||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 18443686 Sibling 16A C G . . Gene=CDKL5;MT=SNP;MM=XL;CADD=16.7;VMM=0;EFF=UPSTREAM(MODIFIER||17||1030|CDKL5|protein_coding|CODING|ENST00000379996||G),INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153171436 Sibling 16A C T . . Gene=AVPR2;MT=SNP;MM=XL;CADD=23.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P159L|371|AVPR2|protein_coding|CODING|ENST00000337474|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P159L|371|AVPR2|protein_coding|CODING|ENST00000358927|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P159L|371|AVPR2|protein_coding|CODING|ENST00000430697|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P159L|309|AVPR2|protein_coding|CODING|ENST00000370049|2|T),DOWNSTREAM(MODIFIER||1394||986|ARHGAP4|protein_coding|CODING|ENST00000370028||T),DOWNSTREAM(MODIFIER||1385||768|ARHGAP4|protein_coding|CODING|ENST00000393721||T),DOWNSTREAM(MODIFIER||1395||946|ARHGAP4|protein_coding|CODING|ENST00000350060||T),DOWNSTREAM(MODIFIER||1395||625|ARHGAP4|nonsense_mediated_decay|CODING|ENST00000420383||T),DOWNSTREAM(MODIFIER||1433|||ARHGAP4|retained_intron|CODING|ENST00000494397||T),DOWNSTREAM(MODIFIER||1457|||ARHGAP4|retained_intron|CODING|ENST00000466928||T),DOWNSTREAM(MODIFIER||1472||925|ARHGAP4|protein_coding|CODING|ENST00000370016||T),DOWNSTREAM(MODIFIER||1472|||ARHGAP4|retained_intron|CODING|ENST00000470209||T),DOWNSTREAM(MODIFIER||1472|||ARHGAP4|retained_intron|CODING|ENST00000494302||T),DOWNSTREAM(MODIFIER||1487||217|ARHGAP4|nonsense_mediated_decay|CODING|ENST00000404127||T),DOWNSTREAM(MODIFIER||1584||923|ARHGAP4|protein_coding|CODING|ENST00000537206||T),DOWNSTREAM(MODIFIER||3486||247|ARHGAP4|protein_coding|CODING|ENST00000454164||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3526|||ARHGAP4|processed_transcript|CODING|ENST00000467421||T),DOWNSTREAM(MODIFIER||3759||291|ARHGAP4|protein_coding|CODING|ENST00000442172||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3837|||ARHGAP4|retained_intron|CODING|ENST00000461739||T),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|1|T),INTRON(MODIFIER||||48|AVPR2|nonsense_mediated_decay|CODING|ENST00000434679|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61802477 Sibling 16A C T . . Gene=ANK3;MT=SNP;MM=CM;CADD=35;VMM=32.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R4369Q|4377|ANK3|protein_coding|CODING|ENST00000280772|43|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1853Q|1861|ANK3|protein_coding|CODING|ENST00000373827|43|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R451Q|459|ANK3|protein_coding|CODING|ENST00000373820|10|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R158Q|166|ANK3|protein_coding|CODING|ENST00000502769|3|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R993Q|1001|ANK3|protein_coding|CODING|ENST00000355288|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1860Q|1868|ANK3|protein_coding|CODING|ENST00000503366|43|T),EXON(MODIFIER|||||ANK3|retained_intron|CODING|ENST00000489505|1|T),EXON(MODIFIER|||||ANK3|processed_transcript|CODING|ENST00000480699|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61941168 Sibling 16A G A . . Gene=ANK3;MT=SNP;MM=CM;CADD=9.326;VMM=32.75;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L701|4377|ANK3|protein_coding|CODING|ENST00000280772|18|A),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L695|1861|ANK3|protein_coding|CODING|ENST00000373827|19|A),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L684|1868|ANK3|protein_coding|CODING|ENST00000503366|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 52650087 Sibling 16A T C . . Gene=NEK5;MT=SNP;MM=CM;CADD=12.48;VMM=44.39;EFF=INTRON(MODIFIER||||708|NEK5|protein_coding|CODING|ENST00000355568|19|C),INTRON(MODIFIER||||295|NEK5|nonsense_mediated_decay|CODING|ENST00000465811|12|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 52660472 Sibling 16A G A . . Gene=NEK5;MT=SNP;MM=CM;CADD=32;VMM=44.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R474C|708|NEK5|protein_coding|CODING|ENST00000355568|16|A),UTR_3_PRIME(MODIFIER||2969||295|NEK5|nonsense_mediated_decay|CODING|ENST00000465811|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 68394042 Sibling 16A A G . . Gene=SMPD3;MT=SNP;MM=CM;CADD=18.34;VMM=48.36;EFF=UTR_3_PRIME(MODIFIER||1067||655|SMPD3|protein_coding|CODING|ENST00000219334|9|G),DOWNSTREAM(MODIFIER||1586||692|PRMT7|protein_coding|CODING|ENST00000339507||G),DOWNSTREAM(MODIFIER||2880||642|PRMT7|protein_coding|CODING|ENST00000449359||G),DOWNSTREAM(MODIFIER||2880||544|PRMT7|protein_coding|CODING|ENST00000348497||G),DOWNSTREAM(MODIFIER||2880||642|PRMT7|protein_coding|CODING|ENST00000441236||G),DOWNSTREAM(MODIFIER||2880||567|PRMT7|nonsense_mediated_decay|CODING|ENST00000568975||G),DOWNSTREAM(MODIFIER||1576|||PRMT7|retained_intron|CODING|ENST00000567542||G),DOWNSTREAM(MODIFIER||3390|||PRMT7|retained_intron|CODING|ENST00000563608||G),DOWNSTREAM(MODIFIER||2890|||PRMT7|retained_intron|CODING|ENST00000568463||G),DOWNSTREAM(MODIFIER||399||206|SMPD3|protein_coding|CODING|ENST00000574662||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||988||638|SMPD3|protein_coding|CODING|ENST00000568373||G),DOWNSTREAM(MODIFIER||995||647|SMPD3|protein_coding|CODING|ENST00000563226||G),DOWNSTREAM(MODIFIER||1160|||SMPD3|retained_intron|CODING|ENST00000563396||G),DOWNSTREAM(MODIFIER||3603|||SMPD3|retained_intron|CODING|ENST00000567223||G),DOWNSTREAM(MODIFIER||4275|||SMPD3|processed_transcript|CODING|ENST00000566009||G),DOWNSTREAM(MODIFIER||4441|||SMPD3|retained_intron|CODING|ENST00000567811||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 68395579 Sibling 16A AGCTCCTTCC A . . Gene=SMPD3;MT=INDEL;MM=CM;CADD=22.1;VMM=48.36;EFF=CODON_DELETION(MODERATE||ggaaggagc/|GRS203|206|SMPD3|protein_coding|CODING|ENST00000574662|6|A|WARNING_TRANSCRIPT_NO_START_CODON),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cggaaggagctg/ctg|RKEL595L|655|SMPD3|protein_coding|CODING|ENST00000219334|8|A),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cggaaggagctg/ctg|RKEL578L|638|SMPD3|protein_coding|CODING|ENST00000568373|6|A),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cggaaggagctg/ctg|RKEL587L|647|SMPD3|protein_coding|CODING|ENST00000563226|6|A),DOWNSTREAM(MODIFIER||3124||692|PRMT7|protein_coding|CODING|ENST00000339507||A),DOWNSTREAM(MODIFIER||4418||642|PRMT7|protein_coding|CODING|ENST00000449359||A),DOWNSTREAM(MODIFIER||4418||544|PRMT7|protein_coding|CODING|ENST00000348497||A),DOWNSTREAM(MODIFIER||4418||642|PRMT7|protein_coding|CODING|ENST00000441236||A),DOWNSTREAM(MODIFIER||4418||567|PRMT7|nonsense_mediated_decay|CODING|ENST00000568975||A),DOWNSTREAM(MODIFIER||3114|||PRMT7|retained_intron|CODING|ENST00000567542||A),DOWNSTREAM(MODIFIER||4928|||PRMT7|retained_intron|CODING|ENST00000563608||A),DOWNSTREAM(MODIFIER||4428|||PRMT7|retained_intron|CODING|ENST00000568463||A),DOWNSTREAM(MODIFIER||2065|||SMPD3|retained_intron|CODING|ENST00000567223||A),DOWNSTREAM(MODIFIER||2737|||SMPD3|processed_transcript|CODING|ENST00000566009||A),DOWNSTREAM(MODIFIER||2903|||SMPD3|retained_intron|CODING|ENST00000567811||A),EXON(MODIFIER|||||SMPD3|retained_intron|CODING|ENST00000563396|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 1371325 Sibling 16A C T . . Gene=MYO1C;MT=SNP;MM=CM;CADD=15.26;VMM=43.03;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E951|1063|MYO1C|protein_coding|CODING|ENST00000359786|28|T),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E932|1044|MYO1C|protein_coding|CODING|ENST00000438665|28|T),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E916|1028|MYO1C|protein_coding|CODING|ENST00000575158|28|T),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E916|1028|MYO1C|protein_coding|CODING|ENST00000361007|28|T),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E927|1039|MYO1C|protein_coding|CODING|ENST00000545534|28|T),UPSTREAM(MODIFIER||4869|||CRK|processed_transcript|CODING|ENST00000572145||T),DOWNSTREAM(MODIFIER||192|||MYO1C|retained_intron|CODING|ENST00000574308||T),DOWNSTREAM(MODIFIER||759|||MYO1C|retained_intron|CODING|ENST00000572615||T),DOWNSTREAM(MODIFIER||2209||64|MYO1C|nonsense_mediated_decay|CODING|ENST00000575011||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2600|||MYO1C|retained_intron|CODING|ENST00000575864||T),DOWNSTREAM(MODIFIER||3103|||MYO1C|retained_intron|CODING|ENST00000571615||T),EXON(MODIFIER|||||MYO1C|retained_intron|CODING|ENST00000574341|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 1382733 Sibling 16A C T . . Gene=MYO1C;MT=SNP;MM=CM;CADD=24.4;VMM=43.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G362R|1063|MYO1C|protein_coding|CODING|ENST00000359786|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G343R|1044|MYO1C|protein_coding|CODING|ENST00000438665|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G327R|1028|MYO1C|protein_coding|CODING|ENST00000575158|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G327R|1028|MYO1C|protein_coding|CODING|ENST00000361007|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G338R|1039|MYO1C|protein_coding|CODING|ENST00000545534|9|T),UPSTREAM(MODIFIER||4508|||MYO1C|retained_intron|CODING|ENST00000571615||T),UPSTREAM(MODIFIER||1298|||MYO1C|retained_intron|CODING|ENST00000573961||T),DOWNSTREAM(MODIFIER||247|||MYO1C|processed_transcript|CODING|ENST00000571851||T),DOWNSTREAM(MODIFIER||1088||266|MYO1C|protein_coding|CODING|ENST00000570984||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1168|||MYO1C|processed_transcript|CODING|ENST00000576822||T),DOWNSTREAM(MODIFIER||3050||169|MYO1C|protein_coding|CODING|ENST00000573853||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3067||163|MYO1C|protein_coding|CODING|ENST00000574790||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3094||167|MYO1C|protein_coding|CODING|ENST00000570490||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3450||136|MYO1C|protein_coding|CODING|ENST00000575335||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3461||133|MYO1C|protein_coding|CODING|ENST00000571715||T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||MYO1C|processed_transcript|CODING|ENST00000573198|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 105621733 Sibling 16A A G . . Gene=CDHR3;MT=SNP;MM=CM;CADD=12.72;VMM=32.17;EFF=INTRON(MODIFIER||||885|CDHR3|protein_coding|CODING|ENST00000317716|3|G),INTRON(MODIFIER|||||CDHR3|processed_transcript|CODING|ENST00000470188|5|G),INTRON(MODIFIER||||61|CDHR3|nonsense_mediated_decay|CODING|ENST00000488386|2|G),INTRON(MODIFIER||||279|CDHR3|protein_coding|CODING|ENST00000343407|3|G),INTRON(MODIFIER||||885|CDHR3|protein_coding|CODING|ENST00000542731|3|G),INTRON(MODIFIER||||797|CDHR3|protein_coding|CODING|ENST00000478080|2|G),INTRON(MODIFIER|||||CDHR3|processed_transcript|CODING|ENST00000461766|2|G),INTRON(MODIFIER||||149|CDHR3|nonsense_mediated_decay|CODING|ENST00000496633|3|G),INTRON(MODIFIER||||149|CDHR3|protein_coding|CODING|ENST00000541203|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 105672877 Sibling 16A G T . . Gene=CDHR3;MT=SNP;MM=CM;CADD=23;VMM=32.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A798S|885|CDHR3|protein_coding|CODING|ENST00000317716|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A798S|885|CDHR3|protein_coding|CODING|ENST00000542731|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A710S|797|CDHR3|protein_coding|CODING|ENST00000478080|18|T),UTR_3_PRIME(MODIFIER||1611||279|CDHR3|protein_coding|CODING|ENST00000343407|17|T),UTR_3_PRIME(MODIFIER||1611||318|CDHR3|protein_coding|CODING|ENST00000466045|10|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CDHR3|processed_transcript|CODING|ENST00000470188|15|T),EXON(MODIFIER|||||CDHR3|retained_intron|CODING|ENST00000468143|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 19705801 Sibling 17A T C . . Gene=SH3KBP1;MT=SNP;MM=XL;CADD=16.91;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T132A|645|SH3KBP1|protein_coding|CODING|ENST00000379726|5|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T196A|553|SH3KBP1|protein_coding|CODING|ENST00000379697|7|C),INTRON(MODIFIER||||665|SH3KBP1|protein_coding|CODING|ENST00000397821|5|C),INTRON(MODIFIER||||628|SH3KBP1|protein_coding|CODING|ENST00000379698|4|C),INTRON(MODIFIER|||||SH3KBP1|processed_transcript|CODING|ENST00000494961|1|C),INTRON(MODIFIER||||207|SH3KBP1|protein_coding|CODING|ENST00000432234|4|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||148|SH3KBP1|protein_coding|CODING|ENST00000431164|3|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 53631677 Sibling 17A C T . . Gene=HUWE1;MT=SNP;MM=XL;CADD=24.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R872Q|4374|HUWE1|protein_coding|CODING|ENST00000262854|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R872Q|4374|HUWE1|protein_coding|CODING|ENST00000342160|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R872Q|1672|HUWE1|protein_coding|CODING|ENST00000218328|26|T),UPSTREAM(MODIFIER||1346||3407|HUWE1|protein_coding|CODING|ENST00000427052||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 135482096 Sibling 17A G A . . Gene=GPR112;MT=SNP;MM=XL;CADD=52;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W2799*|3080|GPR112|protein_coding|CODING|ENST00000370652|19|A),STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W2799*|3080|GPR112|protein_coding|CODING|ENST00000394143|21|A),STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W2594*|2875|GPR112|protein_coding|CODING|ENST00000412101|18|A),STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W2552*|2804|GPR112|protein_coding|CODING|ENST00000287534|13|A),STOP_GAINED(HIGH|NONSENSE|tGg/tAg|W2594*|2875|GPR112|protein_coding|CODING|ENST00000394141|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43647255 Sibling 17A C T . . Gene=WDR65;MT=SNP;MM=CM;CADD=35;VMM=49.98;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R70W|1250|WDR65|protein_coding|CODING|ENST00000372492|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R70W|698|WDR65|protein_coding|CODING|ENST00000528956|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R70W|165|WDR65|protein_coding|CODING|ENST00000529956|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||4429||63|WDR65|nonsense_mediated_decay|CODING|ENST00000525227|4|T),UTR_3_PRIME(MODIFIER||4429||63|WDR65|nonsense_mediated_decay|CODING|ENST00000533339|4|T),UPSTREAM(MODIFIER||3294|||WDR65|retained_intron|CODING|ENST00000534615||T),DOWNSTREAM(MODIFIER||98|||EBNA1BP2|processed_transcript|CODING|ENST00000466927||T),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000461557|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43652360 Sibling 17A G GTTT . . Gene=WDR65;MT=INDEL;MM=CM;CADD=12.7;VMM=49.98;EFF=DOWNSTREAM(MODIFIER||3076||165|WDR65|protein_coding|CODING|ENST00000529956||GTTT|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1250|WDR65|protein_coding|CODING|ENST00000372492|5|GTTT),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000461557|4|GTTT),INTRON(MODIFIER||||698|WDR65|protein_coding|CODING|ENST00000528956|5|GTTT),INTRON(MODIFIER||||63|WDR65|nonsense_mediated_decay|CODING|ENST00000533339|6|GTTT),INTRON(MODIFIER|||||EBNA1BP2|processed_transcript|CODING|ENST00000466927|2|GTTT),INTRON(MODIFIER|||||WDR65|retained_intron|CODING|ENST00000534615|1|GTTT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61828528 Sibling 17A C T . . Gene=ANK3;MT=SNP;MM=CM;CADD=13.43;VMM=30.43;EFF=NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1861|ANK3|protein_coding|CODING||36|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1001|ANK3|protein_coding|CODING||13|T),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1868|ANK3|protein_coding|CODING||36|T),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|S4037|4377|ANK3|protein_coding|CODING|ENST00000280772|37|T),UPSTREAM(MODIFIER||4482||215|ANK3|protein_coding|CODING|ENST00000514197||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4478|||ANK3|retained_intron|CODING|ENST00000459732||T),INTRON(MODIFIER||||1861|ANK3|protein_coding|CODING|ENST00000373827|36|T),INTRON(MODIFIER||||459|ANK3|protein_coding|CODING|ENST00000373820|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1001|ANK3|protein_coding|CODING|ENST00000355288|13|T),INTRON(MODIFIER||||1868|ANK3|protein_coding|CODING|ENST00000503366|36|T),INTRON(MODIFIER||||185|ANK3|protein_coding|CODING|ENST00000511043|1|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61905646 Sibling 17A A G . . Gene=ANK3;MT=SNP;MM=CM;CADD=20.5;VMM=30.43;EFF=UPSTREAM(MODIFIER||4872||1001|ANK3|protein_coding|CODING|ENST00000355288||G),INTRON(MODIFIER||||4377|ANK3|protein_coding|CODING|ENST00000280772|23|G),INTRON(MODIFIER||||1861|ANK3|protein_coding|CODING|ENST00000373827|24|G),INTRON(MODIFIER||||1868|ANK3|protein_coding|CODING|ENST00000503366|24|G),INTRON(MODIFIER||||86|ANK3|protein_coding|CODING|ENST00000460468|2|G),INTRON(MODIFIER||||114|ANK3|protein_coding|CODING|ENST00000474360|3|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119044233 Sibling 17A G A . . Gene=NLRX1;MT=SNP;MM=CM;CADD=24.7;VMM=127.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|975|NLRX1|protein_coding|CODING|ENST00000292199|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|150|NLRX1|protein_coding|CODING|ENST00000454811|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|136|NLRX1|protein_coding|CODING|ENST00000449394|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|126|NLRX1|protein_coding|CODING|ENST00000422249|5|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|975|NLRX1|protein_coding|CODING|ENST00000409991|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|921|NLRX1|protein_coding|CODING|ENST00000409265|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|975|NLRX1|protein_coding|CODING|ENST00000409109|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R92Q|921|NLRX1|protein_coding|CODING|ENST00000525863|4|A),UPSTREAM(MODIFIER||4253|||NLRX1|processed_transcript|CODING|ENST00000469103||A),EXON(MODIFIER|||||NLRX1|processed_transcript|CODING|ENST00000482180|4|A),EXON(MODIFIER|||||NLRX1|processed_transcript|CODING|ENST00000474751|4|A),EXON(MODIFIER|||||NLRX1|retained_intron|CODING|ENST00000481860|4|A),EXON(MODIFIER|||||NLRX1|processed_transcript|CODING|ENST00000468765|4|A),EXON(MODIFIER|||||NLRX1|retained_intron|CODING|ENST00000524562|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119044532 Sibling 17A G T . . Gene=NLRX1;MT=SNP;MM=CM;CADD=35;VMM=127.96;EFF=STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E192*|975|NLRX1|protein_coding|CODING|ENST00000292199|5|T),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E192*|975|NLRX1|protein_coding|CODING|ENST00000409991|5|T),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E192*|921|NLRX1|protein_coding|CODING|ENST00000409265|5|T),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E192*|975|NLRX1|protein_coding|CODING|ENST00000409109|5|T),STOP_GAINED(HIGH|NONSENSE|Gag/Tag|E192*|921|NLRX1|protein_coding|CODING|ENST00000525863|4|T),UPSTREAM(MODIFIER||3954|||NLRX1|processed_transcript|CODING|ENST00000469103||T),DOWNSTREAM(MODIFIER||118|||NLRX1|processed_transcript|CODING|ENST00000482180||T),DOWNSTREAM(MODIFIER||120||150|NLRX1|protein_coding|CODING|ENST00000454811||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||161||136|NLRX1|protein_coding|CODING|ENST00000449394||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||193||126|NLRX1|protein_coding|CODING|ENST00000422249||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||161|||NLRX1|processed_transcript|CODING|ENST00000474751||T),DOWNSTREAM(MODIFIER||131|||NLRX1|processed_transcript|CODING|ENST00000468765||T),EXON(MODIFIER|||||NLRX1|retained_intron|CODING|ENST00000481860|4|T),EXON(MODIFIER|||||NLRX1|retained_intron|CODING|ENST00000524562|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6857381 Sibling 17A G A . . Gene=MLF2;MT=SNP;MM=CM;CADD=17.56;VMM=30.03;EFF=UTR_3_PRIME(MODIFIER||580||248|MLF2|protein_coding|CODING|ENST00000203630|9|A),UTR_3_PRIME(MODIFIER||580||248|MLF2|protein_coding|CODING|ENST00000435120|9|A),DOWNSTREAM(MODIFIER||4574|||RP4-761J14.10|lincRNA|NON_CODING|ENST00000602431||A),DOWNSTREAM(MODIFIER||506|||MLF2|retained_intron|CODING|ENST00000541305||A),DOWNSTREAM(MODIFIER||552||248|MLF2|protein_coding|CODING|ENST00000542154||A),DOWNSTREAM(MODIFIER||580||248|MLF2|protein_coding|CODING|ENST00000539187||A),DOWNSTREAM(MODIFIER||667||229|MLF2|protein_coding|CODING|ENST00000537126||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1572|||MLF2|retained_intron|CODING|ENST00000541346||A),DOWNSTREAM(MODIFIER||1997||120|MLF2|protein_coding|CODING|ENST00000540710||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2129|||MLF2|processed_transcript|CODING|ENST00000564181||A),DOWNSTREAM(MODIFIER||2530||78|MLF2|protein_coding|CODING|ENST00000536207||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3607|||MLF2|retained_intron|CODING|ENST00000536249||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6862942 Sibling 17A A G . . Gene=MLF2;MT=SNP;MM=CM;CADD=15.33;VMM=30.03;EFF=MOTIF[MA0139.1:CTCF](MODIFIER||||||||||G),MOTIF[MA0095.1:Yy1](MODIFIER||||||||||G),UPSTREAM(MODIFIER||221||248|MLF2|protein_coding|CODING|ENST00000203630||G),UPSTREAM(MODIFIER||860||248|MLF2|protein_coding|CODING|ENST00000435120||G),UPSTREAM(MODIFIER||3458|||MLF2|retained_intron|CODING|ENST00000541305||G),UPSTREAM(MODIFIER||860||248|MLF2|protein_coding|CODING|ENST00000542154||G),UPSTREAM(MODIFIER||707||229|MLF2|protein_coding|CODING|ENST00000537126||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||659|||MLF2|retained_intron|CODING|ENST00000541346||G),UPSTREAM(MODIFIER||1068||120|MLF2|protein_coding|CODING|ENST00000540710||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2620|||MLF2|processed_transcript|CODING|ENST00000564181||G),UPSTREAM(MODIFIER||1098||78|MLF2|protein_coding|CODING|ENST00000536207||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||809|||MLF2|retained_intron|CODING|ENST00000536249||G),INTRON(MODIFIER||||248|MLF2|protein_coding|CODING|ENST00000539187|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 8203129 Sibling 17A G C . . Gene=FOXJ2;MT=SNP;MM=CM;CADD=26.2;VMM=50.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G517R|574|FOXJ2|protein_coding|CODING|ENST00000162391|10|C),DOWNSTREAM(MODIFIER||311||526|FOXJ2|protein_coding|CODING|ENST00000428177||C),EXON(MODIFIER|||||FOXJ2|processed_transcript|CODING|ENST00000539192|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 8208048 Sibling 17A AGTT A . . Gene=FOXJ2;MT=INDEL;MM=CM;CADD=16.32;VMM=50.83;EFF=UTR_3_PRIME(MODIFIER||2603||574|FOXJ2|protein_coding|CODING|ENST00000162391|11|A),DOWNSTREAM(MODIFIER||2849||482|C3AR1|protein_coding|CODING|ENST00000307637||A),DOWNSTREAM(MODIFIER||2440|||FOXJ2|processed_transcript|CODING|ENST00000539192||A),DOWNSTREAM(MODIFIER||4293||145|C3AR1|protein_coding|CODING|ENST00000546241||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 73335809 Sibling 17A C T . . Gene=DIS3;MT=SNP;MM=CM;CADD=35;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R829H|958|DIS3|protein_coding|CODING|ENST00000377767|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R799H|928|DIS3|protein_coding|CODING|ENST00000377780|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R667H|796|DIS3|protein_coding|CODING|ENST00000545453|19|T),UTR_3_PRIME(MODIFIER||7232||559|DIS3|nonsense_mediated_decay|CODING|ENST00000490646|17|T),INTRON(MODIFIER|||||DIS3|processed_transcript|CODING|ENST00000469339|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 73346905 Sibling 17A C T . . Gene=DIS3;MT=SNP;MM=CM;CADD=34;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D438N|958|DIS3|protein_coding|CODING|ENST00000377767|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D408N|928|DIS3|protein_coding|CODING|ENST00000377780|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D276N|796|DIS3|protein_coding|CODING|ENST00000545453|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D438N|559|DIS3|nonsense_mediated_decay|CODING|ENST00000490646|9|T),EXON(MODIFIER|||||DIS3|processed_transcript|CODING|ENST00000469339|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 102642617 Sibling 17A T C . . Gene=IL1R2;MT=SNP;MM=CM;CADD=26.1;VMM=68.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I311T|398|IL1R2|protein_coding|CODING|ENST00000332549|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I311T|398|IL1R2|protein_coding|CODING|ENST00000393414|8|C),DOWNSTREAM(MODIFIER||1329||296|IL1R2|protein_coding|CODING|ENST00000441002||C),EXON(MODIFIER|||||IL1R2|retained_intron|CODING|ENST00000474085|3|C),EXON(MODIFIER|||||IL1R2|processed_transcript|CODING|ENST00000485335|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 102642635 Sibling 17A G A . . Gene=IL1R2;MT=SNP;MM=CM;CADD=20.5;VMM=68.15;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R317K|398|IL1R2|protein_coding|CODING|ENST00000332549|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aAa|R317K|398|IL1R2|protein_coding|CODING|ENST00000393414|8|A),DOWNSTREAM(MODIFIER||1347||296|IL1R2|protein_coding|CODING|ENST00000441002||A),EXON(MODIFIER|||||IL1R2|retained_intron|CODING|ENST00000474085|3|A),EXON(MODIFIER|||||IL1R2|processed_transcript|CODING|ENST00000485335|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 81556686 Sibling 17A CT C . . Gene=ZNF704;MT=INDEL;MM=CM;CADD=18.82;VMM=35.47;EFF=UPSTREAM(MODIFIER||3757|||ZNF704|processed_transcript|CODING|ENST00000517379||C),DOWNSTREAM(MODIFIER||487|||CKS1BP7|processed_pseudogene|NON_CODING|ENST00000522230||C),INTRON(MODIFIER||||412|ZNF704|protein_coding|CODING|ENST00000327835|7|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 81556815 Sibling 17A C T . . Gene=ZNF704;MT=SNP;MM=CM;CADD=16.55;VMM=35.47;EFF=UPSTREAM(MODIFIER||3885|||ZNF704|processed_transcript|CODING|ENST00000517379||T),DOWNSTREAM(MODIFIER||359|||CKS1BP7|processed_pseudogene|NON_CODING|ENST00000522230||T),INTRON(MODIFIER||||412|ZNF704|protein_coding|CODING|ENST00000327835|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 79322556 Sibling 17A G A . . Gene=PRUNE2;MT=SNP;MM=CM;CADD=23.1;VMM=107.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A1545V|3088|PRUNE2|protein_coding|CODING|ENST00000376718|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A1186V|2730|PRUNE2|protein_coding|CODING|ENST00000428286|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A866V|2383|PRUNE2|protein_coding|CODING|ENST00000426088|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4202|||PRUNE2|processed_transcript|CODING|ENST00000480674||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 79465455 Sibling 17A C T . . Gene=PRUNE2;MT=SNP;MM=CM;CADD=33;VMM=107.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D90N|3088|PRUNE2|protein_coding|CODING|ENST00000376718|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D90N|298|PRUNE2|protein_coding|CODING|ENST00000376713|3|T),UTR_5_PRIME(MODIFIER||139343||2730|PRUNE2|protein_coding|CODING|ENST00000428286|3|T),EXON(MODIFIER|||||PRUNE2|processed_transcript|CODING|ENST00000492157|3|T),EXON(MODIFIER|||||PRUNE2|processed_transcript|CODING|ENST00000489555|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 44818173 Sibling 18A C CA . . Gene=CTDSPL2;MT=INDEL;MM=HR;CADD=17.68;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1802||466|CTDSPL2|protein_coding|CODING|ENST00000260327|13|CA),UTR_3_PRIME(MODIFIER||1802||394|CTDSPL2|protein_coding|CODING|ENST00000396780|12|CA),UTR_3_PRIME(MODIFIER||1802||394|CTDSPL2|protein_coding|CODING|ENST00000558373|11|CA),DOWNSTREAM(MODIFIER||1433||466|CTDSPL2|protein_coding|CODING|ENST00000558966||CA),DOWNSTREAM(MODIFIER||4570||85|CTDSPL2|nonsense_mediated_decay|CODING|ENST00000560620||CA|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1540|||CTDSPL2|processed_transcript|CODING|ENST00000559738||CA),DOWNSTREAM(MODIFIER||29|||CTDSPL2|retained_intron|CODING|ENST00000559175||CA),DOWNSTREAM(MODIFIER||1281|||EIF3J-AS1|lincRNA|NON_CODING|ENST00000560750||CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56357785 Sibling 18A A G . . Gene=DST;MT=SNP;MM=CM;CADD=24.7;VMM=41.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S6802P|7750|DST|protein_coding|CODING|ENST00000370754|84|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S4210P|5171|DST|protein_coding|CODING|ENST00000244364|65|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S6298P|7246|DST|protein_coding|CODING|ENST00000446842|71|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S6624P|7572|DST|protein_coding|CODING|ENST00000370769|81|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S4536P|5457|DST|protein_coding|CODING|ENST00000421834|75|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S4427P|5375|DST|protein_coding|CODING|ENST00000370788|74|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S6513P|7461|DST|protein_coding|CODING|ENST00000361203|79|G),UTR_3_PRIME(MODIFIER||80025||4200|DST|protein_coding|CODING|ENST00000312431|80|G),UPSTREAM(MODIFIER||744|||DST|retained_intron|CODING|ENST00000487754||G),DOWNSTREAM(MODIFIER||46|||DST|retained_intron|CODING|ENST00000459869||G),DOWNSTREAM(MODIFIER||1078|||DST|processed_transcript|CODING|ENST00000340834||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 56425409 Sibling 18A G A . . Gene=DST;MT=SNP;MM=CM;CADD=14.67;VMM=41.49;EFF=UPSTREAM(MODIFIER||169|||DST|retained_intron|CODING|ENST00000520144||A),INTRON(MODIFIER||||7750|DST|protein_coding|CODING|ENST00000370754|57|A),INTRON(MODIFIER||||5171|DST|protein_coding|CODING|ENST00000244364|38|A),INTRON(MODIFIER||||7246|DST|protein_coding|CODING|ENST00000446842|44|A),INTRON(MODIFIER||||4200|DST|protein_coding|CODING|ENST00000312431|53|A),INTRON(MODIFIER||||7572|DST|protein_coding|CODING|ENST00000370769|54|A),INTRON(MODIFIER||||5457|DST|protein_coding|CODING|ENST00000421834|48|A),INTRON(MODIFIER||||5375|DST|protein_coding|CODING|ENST00000370788|48|A),INTRON(MODIFIER||||7461|DST|protein_coding|CODING|ENST00000361203|53|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 5330436 Sibling 18A C T . . Gene=SLC29A4;MT=SNP;MM=CM;CADD=16.51;VMM=45.99;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F81|530|SLC29A4|protein_coding|CODING|ENST00000297195|3|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F81|162|SLC29A4|protein_coding|CODING|ENST00000434816|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F81|530|SLC29A4|protein_coding|CODING|ENST00000396872|3|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F81|150|SLC29A4|protein_coding|CODING|ENST00000444741|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F81|516|SLC29A4|protein_coding|CODING|ENST00000406453|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 5336815 Sibling 18A G A . . Gene=SLC29A4;MT=SNP;MM=CM;CADD=23.7;VMM=45.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G290R|530|SLC29A4|protein_coding|CODING|ENST00000297195|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G290R|530|SLC29A4|protein_coding|CODING|ENST00000396872|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G276R|516|SLC29A4|protein_coding|CODING|ENST00000406453|7|A),UPSTREAM(MODIFIER||2145|||SLC29A4|processed_transcript|CODING|ENST00000439491||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 66038022 Sibling 19A C G . . Gene=LEPR;MT=SNP;MM=DN;CADD=21.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N128K|1165|LEPR|protein_coding|CODING|ENST00000349533|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N128K|906|LEPR|protein_coding|CODING|ENST00000344610|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N128K|958|LEPR|protein_coding|CODING|ENST00000371059|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N128K|896|LEPR|protein_coding|CODING|ENST00000371060|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N128K|906|LEPR|protein_coding|CODING|ENST00000371058|3|G),UTR_5_PRIME(MODIFIER||63978||232|LEPR|protein_coding|CODING|ENST00000406510|5|G),DOWNSTREAM(MODIFIER||687|||snoU13|snoRNA|NON_CODING|ENST00000459362||G),DOWNSTREAM(MODIFIER||3790|||RP11-430H12.2|processed_pseudogene|NON_CODING|ENST00000426714||G),EXON(MODIFIER|||||LEPR|processed_transcript|CODING|ENST00000462765|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 3656571 Sibling 19A C T . . Gene=SLX4;MT=SNP;MM=DN;CADD=21.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E222K|1834|SLX4|protein_coding|CODING|ENST00000294008|3|T),EXON(MODIFIER|||||SLX4|retained_intron|CODING|ENST00000466154|2|T),EXON(MODIFIER|||||SLX4|retained_intron|CODING|ENST00000486524|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140222486 Sibling 19A A G . . Gene=PCDHA8;MT=SNP;MM=HM;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E527G|950|PCDHA8|protein_coding|CODING|ENST00000531613|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E527G|814|PCDHA8|protein_coding|CODING|ENST00000378123|1|G),UPSTREAM(MODIFIER||4562||950|PCDHA9|protein_coding|CODING|ENST00000532602||G),UPSTREAM(MODIFIER||4871||842|PCDHA9|protein_coding|CODING|ENST00000378122||G),INTRON(MODIFIER||||950|PCDHA1|protein_coding|CODING|ENST00000504120|1|G),INTRON(MODIFIER||||948|PCDHA2|protein_coding|CODING|ENST00000526136|1|G),INTRON(MODIFIER||||950|PCDHA3|protein_coding|CODING|ENST00000522353|1|G),INTRON(MODIFIER||||947|PCDHA4|protein_coding|CODING|ENST00000530339|1|G),INTRON(MODIFIER||||936|PCDHA5|protein_coding|CODING|ENST00000529859|1|G),INTRON(MODIFIER||||950|PCDHA6|protein_coding|CODING|ENST00000529310|1|G),INTRON(MODIFIER||||937|PCDHA7|protein_coding|CODING|ENST00000525929|1|G),INTRON(MODIFIER||||686|PCDHA1|protein_coding|CODING|ENST00000394633|1|G),INTRON(MODIFIER||||901|PCDHA4|protein_coding|CODING|ENST00000512229|1|G),INTRON(MODIFIER||||890|PCDHA5|protein_coding|CODING|ENST00000529619|1|G),INTRON(MODIFIER||||686|PCDHA6|protein_coding|CODING|ENST00000527624|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 846959 Sibling 19A G T . . Gene=DMRT1;MT=SNP;MM=DN;CADD=24.4;VMM=0;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||373|DMRT1|protein_coding|CODING|ENST00000382276|1|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||DMRT1|retained_intron|CODING|ENST00000564322|1|T),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||215|DMRT1|protein_coding|CODING|ENST00000569227|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 14882830 Sibling 19A A T . . Gene=FANCB;MT=SNP;MM=XL;CADD=25.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F268Y|859|FANCB|protein_coding|CODING|ENST00000324138|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F268Y|859|FANCB|protein_coding|CODING|ENST00000398334|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tAt|F268Y|817|FANCB|protein_coding|CODING|ENST00000452869|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||635|||FANCB|retained_intron|CODING|ENST00000489126||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 32173349 Sibling 19A C T . . Gene=DMD;MT=SNP;MM=XL;CADD=15.32;VMM=0;EFF=INTRON(MODIFIER||||3685|DMD|protein_coding|CODING|ENST00000357033|44|T),INTRON(MODIFIER||||1133|DMD|protein_coding|CODING|ENST00000343523|1|T),INTRON(MODIFIER||||1230|DMD|protein_coding|CODING|ENST00000359836|1|T),INTRON(MODIFIER||||1225|DMD|protein_coding|CODING|ENST00000378707|1|T),INTRON(MODIFIER||||1115|DMD|protein_coding|CODING|ENST00000541735|1|T),INTRON(MODIFIER||||3681|DMD|protein_coding|CODING|ENST00000378677|44|T),INTRON(MODIFIER||||1243|DMD|protein_coding|CODING|ENST00000474231|1|T),INTRON(MODIFIER|||||DMD|processed_transcript|CODING|ENST00000488902|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 47628042 Sibling 19A T A . . Gene=PHKB;MT=SNP;MM=CM;CADD=13.68;VMM=44.16;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1093|PHKB|protein_coding|CODING|ENST00000299167|11|A),SPLICE_SITE_REGION+INTRON(LOW||||1086|PHKB|protein_coding|CODING|ENST00000566044|12|A),SPLICE_SITE_REGION+INTRON(LOW||||1086|PHKB|protein_coding|CODING|ENST00000455779|12|A),SPLICE_SITE_REGION+INTRON(LOW||||1093|PHKB|protein_coding|CODING|ENST00000323584|11|A),UPSTREAM(MODIFIER||19|||PHKB|processed_transcript|CODING|ENST00000566436||A),UPSTREAM(MODIFIER||2297||75|PHKB|protein_coding|CODING|ENST00000568439||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4523|||NDUFA5P11|processed_pseudogene|NON_CODING|ENST00000567995||A),DOWNSTREAM(MODIFIER||3293|||PHKB|processed_transcript|CODING|ENST00000567402||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 47732476 Sibling 19A C T . . Gene=PHKB;MT=SNP;MM=CM;CADD=28.4;VMM=44.16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1041W|1093|PHKB|protein_coding|CODING|ENST00000299167|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1034W|1086|PHKB|protein_coding|CODING|ENST00000566044|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1034W|1086|PHKB|protein_coding|CODING|ENST00000455779|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1041W|1093|PHKB|protein_coding|CODING|ENST00000323584|30|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R45W|77|PHKB|protein_coding|CODING|ENST00000564711|2|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PHKB|retained_intron|CODING|ENST00000566319|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38950653 Sibling 19A G T . . Gene=SCN11A;MT=SNP;MM=CM;CADD=21;VMM=59.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F378L|1791|SCN11A|protein_coding|CODING|ENST00000302328|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F378L|1791|SCN11A|protein_coding|CODING|ENST00000450244|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F378L|1753|SCN11A|protein_coding|CODING|ENST00000456224|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttA|F378L|1444|SCN11A|protein_coding|CODING|ENST00000444237|9|T),DOWNSTREAM(MODIFIER||1773|||AC116038.1|miRNA|NON_CODING|ENST00000401122||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 38962696 Sibling 19A T G . . Gene=SCN11A;MT=SNP;MM=CM;CADD=22.9;VMM=59.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N255H|1791|SCN11A|protein_coding|CODING|ENST00000302328|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N255H|1791|SCN11A|protein_coding|CODING|ENST00000450244|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N255H|1753|SCN11A|protein_coding|CODING|ENST00000456224|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Cac|N255H|1444|SCN11A|protein_coding|CODING|ENST00000444237|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 126853315 Sibling 19A A C . . Gene=PRRC1;MT=SNP;MM=CM;CADD=17.67;VMM=31.28;EFF=START_GAINED(LOW||||445|PRRC1|protein_coding|CODING|ENST00000296666|1|C),UTR_5_PRIME(MODIFIER||5857||445|PRRC1|protein_coding|CODING|ENST00000296666|1|C),UPSTREAM(MODIFIER||4781|||HNRNPKP1|processed_pseudogene|NON_CODING|ENST00000510896||C),UPSTREAM(MODIFIER||33||462|PRRC1|protein_coding|CODING|ENST00000512635||C),UPSTREAM(MODIFIER||17|||PRRC1|retained_intron|CODING|ENST00000512871||C),UPSTREAM(MODIFIER||28||418|PRRC1|protein_coding|CODING|ENST00000442138||C),UPSTREAM(MODIFIER||323|||PRRC1|retained_intron|CODING|ENST00000507774||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 126866060 Sibling 19A G A . . Gene=PRRC1;MT=SNP;MM=CM;CADD=15.79;VMM=31.28;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T243|462|PRRC1|protein_coding|CODING|ENST00000512635|5|A),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T243|445|PRRC1|protein_coding|CODING|ENST00000296666|5|A),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T243|418|PRRC1|protein_coding|CODING|ENST00000442138|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144997023 Sibling 19A C T . . Gene=PLEC;MT=SNP;MM=CM;CADD=13.14;VMM=33.79;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2495|4684|PLEC|protein_coding|CODING|ENST00000322810|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2358|4547|PLEC|protein_coding|CODING|ENST00000345136|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2362|4551|PLEC|protein_coding|CODING|ENST00000357649|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2358|4547|PLEC|protein_coding|CODING|ENST00000354589|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2326|4515|PLEC|protein_coding|CODING|ENST00000398774|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2336|4525|PLEC|protein_coding|CODING|ENST00000354958|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2344|4533|PLEC|protein_coding|CODING|ENST00000356346|31|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2385|4574|PLEC|protein_coding|CODING|ENST00000436759|32|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A2381|4570|PLEC|protein_coding|CODING|ENST00000527096|31|T),INTRON(MODIFIER||||197|PLEC|protein_coding|CODING|ENST00000527303|2|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 145004388 Sibling 19A C T . . Gene=PLEC;MT=SNP;MM=CM;CADD=23.2;VMM=33.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G983S|4684|PLEC|protein_coding|CODING|ENST00000322810|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G846S|4547|PLEC|protein_coding|CODING|ENST00000345136|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G850S|4551|PLEC|protein_coding|CODING|ENST00000357649|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G846S|4547|PLEC|protein_coding|CODING|ENST00000354589|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G814S|4515|PLEC|protein_coding|CODING|ENST00000398774|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G824S|4525|PLEC|protein_coding|CODING|ENST00000354958|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G832S|4533|PLEC|protein_coding|CODING|ENST00000356346|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G873S|4574|PLEC|protein_coding|CODING|ENST00000436759|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G869S|4570|PLEC|protein_coding|CODING|ENST00000527096|21|T),UPSTREAM(MODIFIER||3209||197|PLEC|protein_coding|CODING|ENST00000527303||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2180||702|PLEC|protein_coding|CODING|ENST00000528025||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 91434222 Sibling 20A C T . . Gene=FES;MT=SNP;MM=CM;CADD=18.33;VMM=37.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P444L|822|FES|protein_coding|CODING|ENST00000328850|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P444L|545|FES|nonsense_mediated_decay|CODING|ENST00000464684|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P386L|764|FES|protein_coding|CODING|ENST00000394300|9|T),DOWNSTREAM(MODIFIER||1614||121|FES|nonsense_mediated_decay|CODING|ENST00000470152||T),DOWNSTREAM(MODIFIER||3783||168|FES|protein_coding|CODING|ENST00000559355||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3977||146|FES|protein_coding|CODING|ENST00000452243||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1667|||FES|retained_intron|CODING|ENST00000497945||T),DOWNSTREAM(MODIFIER||1053|||FES|retained_intron|CODING|ENST00000494259||T),DOWNSTREAM(MODIFIER||467|||FES|retained_intron|CODING|ENST00000462476||T),INTRON(MODIFIER||||694|FES|protein_coding|CODING|ENST00000414248|9|T),INTRON(MODIFIER||||681|FES|protein_coding|CODING|ENST00000394302|9|T),INTRON(MODIFIER||||694|FES|protein_coding|CODING|ENST00000450438|8|T),INTRON(MODIFIER||||752|FES|protein_coding|CODING|ENST00000444422|9|T),INTRON(MODIFIER|||||FES|retained_intron|CODING|ENST00000496379|3|T),EXON(MODIFIER|||||FES|processed_transcript|CODING|ENST00000448367|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 91436548 Sibling 20A C G . . Gene=FES;MT=SNP;MM=CM;CADD=17.95;VMM=37.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T650R|822|FES|protein_coding|CODING|ENST00000328850|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T522R|694|FES|protein_coding|CODING|ENST00000414248|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T509R|681|FES|protein_coding|CODING|ENST00000394302|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T522R|694|FES|protein_coding|CODING|ENST00000450438|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T592R|764|FES|protein_coding|CODING|ENST00000394300|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T580R|752|FES|protein_coding|CODING|ENST00000444422|14|G),UTR_3_PRIME(MODIFIER||1701||545|FES|nonsense_mediated_decay|CODING|ENST00000464684|16|G),DOWNSTREAM(MODIFIER||3940||121|FES|nonsense_mediated_decay|CODING|ENST00000470152||G),DOWNSTREAM(MODIFIER||3993|||FES|retained_intron|CODING|ENST00000497945||G),DOWNSTREAM(MODIFIER||3379|||FES|retained_intron|CODING|ENST00000494259||G),DOWNSTREAM(MODIFIER||2296|||FES|processed_transcript|CODING|ENST00000448367||G),DOWNSTREAM(MODIFIER||909|||FES|retained_intron|CODING|ENST00000496379||G),DOWNSTREAM(MODIFIER||2793|||FES|retained_intron|CODING|ENST00000462476||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 40139921 Sibling 20A T C . . Gene=DNAJC7;MT=SNP;MM=CM;CADD=19.35;VMM=42.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K309R|494|DNAJC7|protein_coding|CODING|ENST00000457167|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K253R|438|DNAJC7|protein_coding|CODING|ENST00000426588|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K253R|438|DNAJC7|protein_coding|CODING|ENST00000316603|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K50R|88|DNAJC7|nonsense_mediated_decay|CODING|ENST00000586335|2|C|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E251|253|DNAJC7|nonsense_mediated_decay|CODING|ENST00000589810|9|C),UTR_3_PRIME(MODIFIER||7072||137|DNAJC7|nonsense_mediated_decay|CODING|ENST00000588814|9|C),UPSTREAM(MODIFIER||1836|||DNAJC7|retained_intron|CODING|ENST00000590197||C),DOWNSTREAM(MODIFIER||858||257|DNAJC7|protein_coding|CODING|ENST00000588641||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||923||260|DNAJC7|protein_coding|CODING|ENST00000590348||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1518|||DNAJC7|processed_transcript|CODING|ENST00000591153||C),DOWNSTREAM(MODIFIER||2408||127|DNAJC7|protein_coding|CODING|ENST00000589576||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2451||112|DNAJC7|protein_coding|CODING|ENST00000590774||C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DNAJC7|retained_intron|CODING|ENST00000590847|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 40169473 Sibling 20A G A . . Gene=DNAJC7;MT=SNP;MM=CM;CADD=18.84;VMM=42.7;EFF=START_GAINED(LOW||||494|DNAJC7|protein_coding|CODING|ENST00000457167|1|A),UTR_5_PRIME(MODIFIER||39||494|DNAJC7|protein_coding|CODING|ENST00000457167|1|A),UTR_5_PRIME(MODIFIER||4123||191|NKIRAS2|protein_coding|CODING|ENST00000307641|1|A),UPSTREAM(MODIFIER||2668||229|NKIRAS2|protein_coding|CODING|ENST00000316082||A),UPSTREAM(MODIFIER||304||438|DNAJC7|protein_coding|CODING|ENST00000426588||A),UPSTREAM(MODIFIER||36||137|DNAJC7|nonsense_mediated_decay|CODING|ENST00000588814||A),UPSTREAM(MODIFIER||36||438|DNAJC7|protein_coding|CODING|ENST00000316603||A),UPSTREAM(MODIFIER||304||253|DNAJC7|nonsense_mediated_decay|CODING|ENST00000589810||A),UPSTREAM(MODIFIER||32||257|DNAJC7|protein_coding|CODING|ENST00000588641||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||293||127|DNAJC7|protein_coding|CODING|ENST00000589576||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||757||112|DNAJC7|protein_coding|CODING|ENST00000590774||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||310||103|DNAJC7|protein_coding|CODING|ENST00000589586||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||32||39|DNAJC7|nonsense_mediated_decay|CODING|ENST00000585866||A),UPSTREAM(MODIFIER||453|||DNAJC7|processed_transcript|CODING|ENST00000589547||A),UPSTREAM(MODIFIER||2518|||DNAJC7|retained_intron|CODING|ENST00000587380||A),UPSTREAM(MODIFIER||302|||DNAJC7|retained_intron|CODING|ENST00000586240||A),UPSTREAM(MODIFIER||2596||191|NKIRAS2|protein_coding|CODING|ENST00000393885||A),UPSTREAM(MODIFIER||2614||189|NKIRAS2|protein_coding|CODING|ENST00000393884||A),UPSTREAM(MODIFIER||2617||139|NKIRAS2|protein_coding|CODING|ENST00000587337||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2623||97|NKIRAS2|protein_coding|CODING|ENST00000479407||A),UPSTREAM(MODIFIER||2623||58|NKIRAS2|nonsense_mediated_decay|CODING|ENST00000485789||A),UPSTREAM(MODIFIER||2642||191|NKIRAS2|protein_coding|CODING|ENST00000393880||A),UPSTREAM(MODIFIER||2642||191|NKIRAS2|protein_coding|CODING|ENST00000393881||A),UPSTREAM(MODIFIER||2646||41|NKIRAS2|protein_coding|CODING|ENST00000462043||A),UPSTREAM(MODIFIER||2647|||NKIRAS2|retained_intron|CODING|ENST00000587028||A),UPSTREAM(MODIFIER||2649||42|NKIRAS2|nonsense_mediated_decay|CODING|ENST00000491638||A),UPSTREAM(MODIFIER||2651||135|NKIRAS2|protein_coding|CODING|ENST00000449471||A),UPSTREAM(MODIFIER||2961|||NKIRAS2|retained_intron|CODING|ENST00000393879||A),INTRON(MODIFIER||||260|DNAJC7|protein_coding|CODING|ENST00000590348|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||101|DNAJC7|protein_coding|CODING|ENST00000589773|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||73|DNAJC7|protein_coding|CODING|ENST00000591787|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||45|NKIRAS2|protein_coding|CODING|ENST00000585955|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 47558420 Sibling 20A C T . . Gene=ARFGEF2;MT=SNP;MM=CM;CADD=22.8;VMM=42.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P58S|1785|ARFGEF2|protein_coding|CODING|ENST00000371917|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 47626793 Sibling 20A G A . . Gene=ARFGEF2;MT=SNP;MM=CM;CADD=16.02;VMM=42.38;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A1203|1785|ARFGEF2|protein_coding|CODING|ENST00000371917|27|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 96051098 Sibling 20A G A . . Gene=BMPR1B;MT=SNP;MM=CM;CADD=34;VMM=31.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R254H|532|BMPR1B|protein_coding|CODING|ENST00000440890|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R224H|502|BMPR1B|protein_coding|CODING|ENST00000515059|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R224H|502|BMPR1B|protein_coding|CODING|ENST00000512312|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R224H|502|BMPR1B|protein_coding|CODING|ENST00000509540|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R224H|502|BMPR1B|protein_coding|CODING|ENST00000264568|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R224H|502|BMPR1B|protein_coding|CODING|ENST00000394931|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 96077796 Sibling 20A C A . . Gene=BMPR1B;MT=SNP;MM=CM;CADD=9.191;VMM=31.25;EFF=UTR_3_PRIME(MODIFIER||1972||502|BMPR1B|protein_coding|CODING|ENST00000515059|13|A),DOWNSTREAM(MODIFIER||1828||532|BMPR1B|protein_coding|CODING|ENST00000440890||A),DOWNSTREAM(MODIFIER||1972||502|BMPR1B|protein_coding|CODING|ENST00000512312||A),DOWNSTREAM(MODIFIER||1828||502|BMPR1B|protein_coding|CODING|ENST00000509540||A),DOWNSTREAM(MODIFIER||1828||502|BMPR1B|protein_coding|CODING|ENST00000264568||A),DOWNSTREAM(MODIFIER||1629||502|BMPR1B|protein_coding|CODING|ENST00000394931||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 144854342 Sibling 20A G A . . Gene=UTRN;MT=SNP;MM=CM;CADD=10.31;VMM=36.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G2060D|3433|UTRN|protein_coding|CODING|ENST00000367545|42|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 144869898 Sibling 20A G A . . Gene=UTRN;MT=SNP;MM=CM;CADD=34;VMM=36.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2240N|3433|UTRN|protein_coding|CODING|ENST00000367545|46|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 36684816 Sibling 21A C T . . Gene=MYH9;MT=SNP;MM=HR;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1576Q|1960|MYH9|protein_coding|CODING|ENST00000216181|33|T),UPSTREAM(MODIFIER||2726|||MYH9|processed_transcript|CODING|ENST00000475726||T),UPSTREAM(MODIFIER||2749|||MYH9|retained_intron|CODING|ENST00000486218||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 104131527 Sibling 21A G A . . Gene=STAB2;MT=SNP;MM=CM;CADD=18.54;VMM=47.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R1889H|2551|STAB2|protein_coding|CODING|ENST00000388887|53|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 104156089 Sibling 21A T C . . Gene=STAB2;MT=SNP;MM=CM;CADD=21.5;VMM=47.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F2466S|2551|STAB2|protein_coding|CODING|ENST00000388887|67|C),UPSTREAM(MODIFIER||1187||135|STAB2|protein_coding|CODING|ENST00000552777||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1001|||RP11-341G23.4|antisense|NON_CODING|ENST00000550029||C),DOWNSTREAM(MODIFIER||4024|||STAB2|retained_intron|CODING|ENST00000548073||C),DOWNSTREAM(MODIFIER||957|||STAB2|retained_intron|CODING|ENST00000548579||C),INTRON(MODIFIER|||||RP11-341G23.4|antisense|NON_CODING|ENST00000551299|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 8000048 Sibling 21A C T . . Gene=ALOXE3;MT=SNP;MM=CM;CADD=23;VMM=82.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R834H|867|ALOXE3|protein_coding|CODING|ENST00000380149|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R678H|711|ALOXE3|protein_coding|CODING|ENST00000448843|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R810H|843|ALOXE3|protein_coding|CODING|ENST00000318227|16|T),EXON(MODIFIER|||||ALOXE3|retained_intron|CODING|ENST00000583808|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 8007512 Sibling 21A G T . . Gene=ALOXE3;MT=SNP;MM=CM;CADD=26.9;VMM=82.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T725N|867|ALOXE3|protein_coding|CODING|ENST00000380149|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T569N|711|ALOXE3|protein_coding|CODING|ENST00000448843|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T701N|843|ALOXE3|protein_coding|CODING|ENST00000318227|14|T),UPSTREAM(MODIFIER||679|||ALOXE3|retained_intron|CODING|ENST00000583808||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50197146 Sibling 21A C T . . Gene=SEMA3F;MT=SNP;MM=CM;CADD=29;VMM=72.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R31W|785|SEMA3F|protein_coding|CODING|ENST00000002829|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R31W|263|SEMA3F|protein_coding|CODING|ENST00000414301|2|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R31W|378|SEMA3F|protein_coding|CODING|ENST00000450338|2|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R31W|91|SEMA3F|protein_coding|CODING|ENST00000426511|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R31W|754|SEMA3F|protein_coding|CODING|ENST00000434342|2|T),START_GAINED(LOW||||686|SEMA3F|protein_coding|CODING|ENST00000413852|2|T),NEXT_PROT[domain:Sema](LOW||||785|SEMA3F|protein_coding|CODING||2|T),UTR_5_PRIME(MODIFIER||14172||686|SEMA3F|protein_coding|CODING|ENST00000413852|2|T),UPSTREAM(MODIFIER||3628|||RP11-493K19.3|antisense|NON_CODING|ENST00000437204||T),UPSTREAM(MODIFIER||3693|||RP11-493K19.3|antisense|NON_CODING|ENST00000425674||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50214233 Sibling 21A C T . . Gene=SEMA3F;MT=SNP;MM=CM;CADD=19.4;VMM=72.04;EFF=SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L194|785|SEMA3F|protein_coding|CODING|ENST00000002829|7|T),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L163|263|SEMA3F|protein_coding|CODING|ENST00000414301|6|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L163|378|SEMA3F|protein_coding|CODING|ENST00000450338|6|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L95|686|SEMA3F|protein_coding|CODING|ENST00000413852|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L163|754|SEMA3F|protein_coding|CODING|ENST00000434342|6|T),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|L127|146|SEMA3F|protein_coding|CODING|ENST00000420831|4|T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3381|||MIR566|miRNA|NON_CODING|ENST00000385187||T),DOWNSTREAM(MODIFIER||2844||91|SEMA3F|protein_coding|CODING|ENST00000426511||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 17868817 Sibling 21A A C . . Gene=PCM1;MT=SNP;MM=CM;CADD=18.32;VMM=44.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R1764S|2024|PCM1|protein_coding|CODING|ENST00000325083|33|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R1756S|2016|PCM1|protein_coding|CODING|ENST00000519253|33|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R1710S|1860|PCM1|protein_coding|CODING|ENST00000524226|31|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R463S|723|PCM1|protein_coding|CODING|ENST00000327578|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agA/agC|R503S|763|PCM1|protein_coding|CODING|ENST00000522275|12|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2520|||PCM1|retained_intron|CODING|ENST00000519802||C),UPSTREAM(MODIFIER||2574|||PCM1|retained_intron|CODING|ENST00000518877||C),UPSTREAM(MODIFIER||2680|||PCM1|processed_transcript|CODING|ENST00000524203||C),DOWNSTREAM(MODIFIER||1643|||PCM1|retained_intron|CODING|ENST00000521338||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 17872099 Sibling 21A A G . . Gene=PCM1;MT=SNP;MM=CM;CADD=20.5;VMM=44.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q1864R|2024|PCM1|protein_coding|CODING|ENST00000325083|36|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q1856R|2016|PCM1|protein_coding|CODING|ENST00000519253|36|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q563R|723|PCM1|protein_coding|CODING|ENST00000327578|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q603R|763|PCM1|protein_coding|CODING|ENST00000522275|15|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4925|||PCM1|retained_intron|CODING|ENST00000521338||G),INTRON(MODIFIER||||1860|PCM1|protein_coding|CODING|ENST00000524226|32|G),INTRON(MODIFIER|||||PCM1|retained_intron|CODING|ENST00000518877|1|G),EXON(MODIFIER|||||PCM1|retained_intron|CODING|ENST00000519802|2|G),EXON(MODIFIER|||||PCM1|processed_transcript|CODING|ENST00000524203|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105752715 Sibling 22A AT A . . Gene=SLK;MT=INDEL;MM=CM;CADD=12.95;VMM=40.33;EFF=INTRON(MODIFIER||||1235|SLK|protein_coding|CODING|ENST00000369755|3|A),INTRON(MODIFIER||||1204|SLK|protein_coding|CODING|ENST00000335753|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105762444 Sibling 22A C T . . Gene=SLK;MT=SNP;MM=CM;CADD=27.9;VMM=40.33;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S503F|1235|SLK|protein_coding|CODING|ENST00000369755|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S503F|1204|SLK|protein_coding|CODING|ENST00000335753|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 180332544 Sibling 22A CAGT C . . Gene=CCDC39;MT=INDEL;MM=CM;CADD=14.67;VMM=42.61;EFF=UTR_3_PRIME(MODIFIER||162||941|CCDC39|protein_coding|CODING|ENST00000442201|20|C),UTR_3_PRIME(MODIFIER||4589||671|CCDC39|nonsense_mediated_decay|CODING|ENST00000476379|25|C),UTR_3_PRIME(MODIFIER||4589||755|CCDC39|protein_coding|CODING|ENST00000273654|25|C),DOWNSTREAM(MODIFIER||3779||770|TTC14|protein_coding|CODING|ENST00000296015||C),DOWNSTREAM(MODIFIER||3783||439|TTC14|protein_coding|CODING|ENST00000412756||C),DOWNSTREAM(MODIFIER||3783||175|TTC14|nonsense_mediated_decay|CODING|ENST00000465065||C),DOWNSTREAM(MODIFIER||4754||439|TTC14|nonsense_mediated_decay|CODING|ENST00000470669||C),DOWNSTREAM(MODIFIER||4589|||TTC14|processed_transcript|CODING|ENST00000465625||C),DOWNSTREAM(MODIFIER||3777|||TTC14|processed_transcript|CODING|ENST00000487397||C),INTRON(MODIFIER||||653|TTC14|protein_coding|CODING|ENST00000382584|12|C),INTRON(MODIFIER||||101|CCDC39|protein_coding|CODING|ENST00000473854|3|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||67|CCDC39|protein_coding|CODING|ENST00000489868|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 180377308 Sibling 22A T C . . Gene=CCDC39;MT=SNP;MM=CM;CADD=25.3;VMM=42.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I224V|941|CCDC39|protein_coding|CODING|ENST00000442201|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I224V|671|CCDC39|nonsense_mediated_decay|CODING|ENST00000476379|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I308V|755|CCDC39|protein_coding|CODING|ENST00000273654|12|C),DOWNSTREAM(MODIFIER||2352||96|CCDC39|protein_coding|CODING|ENST00000471307||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 107558414 Sibling 22A C T . . Gene=ABCA1;MT=SNP;MM=CM;CADD=31;VMM=80.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1768M|2261|ABCA1|protein_coding|CODING|ENST00000374736|39|T),NEXT_PROT[transmembrane-region:Transmembrane_region](LOW||||2261|ABCA1|protein_coding|CODING||39|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 107579633 Sibling 22A T C . . Gene=ABCA1;MT=SNP;MM=CM;CADD=19.88;VMM=80.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E1172G|2261|ABCA1|protein_coding|CODING|ENST00000374736|24|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21760433 Sibling 22B G A . . Gene=DNAH11;MT=SNP;MM=HR;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A2416T|4523|DNAH11|protein_coding|CODING|ENST00000328843|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A2409T|4516|DNAH11|protein_coding|CODING|ENST00000409508|44|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 8784791 Sibling 22B C T . . Gene=SOGA2;MT=SNP;MM=CM;CADD=34;VMM=46.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R921W|1905|SOGA2|protein_coding|CODING|ENST00000306329|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R561W|1545|SOGA2|protein_coding|CODING|ENST00000517570|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R561W|1545|SOGA2|protein_coding|CODING|ENST00000400050|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R561W|1586|SOGA2|protein_coding|CODING|ENST00000359865|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R403W|509|SOGA2|nonsense_mediated_decay|CODING|ENST00000520495|2|T),START_GAINED(LOW||||976|SOGA2|protein_coding|CODING|ENST00000306285|6|T),UTR_5_PRIME(MODIFIER||11484||976|SOGA2|protein_coding|CODING|ENST00000306285|6|T),UPSTREAM(MODIFIER||4881||976|SOGA2|protein_coding|CODING|ENST00000518815||T),EXON(MODIFIER|||||SOGA2|processed_transcript|CODING|ENST00000523811|1|T),EXON(MODIFIER|||||SOGA2|retained_intron|CODING|ENST00000517554|1|T),EXON(MODIFIER|||||SOGA2|processed_transcript|CODING|ENST00000521018|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 8784913 Sibling 22B C T . . Gene=SOGA2;MT=SNP;MM=CM;CADD=12.34;VMM=46.59;EFF=UPSTREAM(MODIFIER||4759||976|SOGA2|protein_coding|CODING|ENST00000518815||T),INTRON(MODIFIER||||1905|SOGA2|protein_coding|CODING|ENST00000306329|5|T),INTRON(MODIFIER||||1545|SOGA2|protein_coding|CODING|ENST00000517570|5|T),INTRON(MODIFIER||||976|SOGA2|protein_coding|CODING|ENST00000306285|6|T),INTRON(MODIFIER||||1545|SOGA2|protein_coding|CODING|ENST00000400050|6|T),INTRON(MODIFIER||||1586|SOGA2|protein_coding|CODING|ENST00000359865|6|T),INTRON(MODIFIER||||509|SOGA2|nonsense_mediated_decay|CODING|ENST00000520495|2|T),INTRON(MODIFIER|||||SOGA2|processed_transcript|CODING|ENST00000523811|1|T),INTRON(MODIFIER|||||SOGA2|retained_intron|CODING|ENST00000517554|1|T),INTRON(MODIFIER|||||SOGA2|processed_transcript|CODING|ENST00000521018|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44065072 Sibling 22B C T . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=23.7;VMM=56.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1969K|2211|LOXHD1|protein_coding|CODING|ENST00000536736|38|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R920K|1114|LOXHD1|protein_coding|CODING|ENST00000300591|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R270K|457|LOXHD1|protein_coding|CODING|ENST00000398705|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R824K|1011|LOXHD1|protein_coding|CODING|ENST00000579038|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1753K|1947|LOXHD1|protein_coding|CODING|ENST00000398722|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R902K|1144|LOXHD1|protein_coding|CODING|ENST00000441893|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R858K|1100|LOXHD1|protein_coding|CODING|ENST00000582408|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R270K|512|LOXHD1|protein_coding|CODING|ENST00000398686|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R1825K|2067|LOXHD1|protein_coding|CODING|ENST00000441551|37|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44104491 Sibling 22B A G . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=19.31;VMM=56.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M1605T|2211|LOXHD1|protein_coding|CODING|ENST00000536736|31|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M494T|1114|LOXHD1|protein_coding|CODING|ENST00000300591|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M398T|1011|LOXHD1|protein_coding|CODING|ENST00000579038|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M1327T|1947|LOXHD1|protein_coding|CODING|ENST00000398722|24|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M538T|1144|LOXHD1|protein_coding|CODING|ENST00000441893|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M494T|1100|LOXHD1|protein_coding|CODING|ENST00000582408|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M1399T|2067|LOXHD1|protein_coding|CODING|ENST00000441551|29|G),UPSTREAM(MODIFIER||3830||179|LOXHD1|protein_coding|CODING|ENST00000414184||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3803||56|LOXHD1|protein_coding|CODING|ENST00000452425||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4772||306|LOXHD1|nonsense_mediated_decay|CODING|ENST00000536111||G),EXON(MODIFIER|||||LOXHD1|retained_intron|CODING|ENST00000335730|24|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 37035105 Sibling 22B G A . . Gene=MLH1;MT=SNP;MM=CM;CADD=33;VMM=73.09;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||756|MLH1|protein_coding|CODING||1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E23K|756|MLH1|protein_coding|CODING|ENST00000231790|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E23K|38|MLH1|nonsense_mediated_decay|CODING|ENST00000457004|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E23K|48|MLH1|nonsense_mediated_decay|CODING|ENST00000432299|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E23K|38|MLH1|nonsense_mediated_decay|CODING|ENST00000442249|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E23K|38|MLH1|nonsense_mediated_decay|CODING|ENST00000454028|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E14K|678|MLH1|protein_coding|CODING|ENST00000456676|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||310||607|EPM2AIP1|protein_coding|CODING|ENST00000322716||A),UPSTREAM(MODIFIER||162||515|MLH1|protein_coding|CODING|ENST00000458205||A),UPSTREAM(MODIFIER||163|||MLH1|processed_transcript|CODING|ENST00000476172||A),UPSTREAM(MODIFIER||163||515|MLH1|protein_coding|CODING|ENST00000539477||A),UPSTREAM(MODIFIER||184||515|MLH1|protein_coding|CODING|ENST00000455445||A),UPSTREAM(MODIFIER||190||104|MLH1|protein_coding|CODING|ENST00000441265||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||190||658|MLH1|protein_coding|CODING|ENST00000435176||A),UPSTREAM(MODIFIER||212||82|MLH1|protein_coding|CODING|ENST00000429117||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||212|||MLH1|processed_transcript|CODING|ENST00000492474||A),UPSTREAM(MODIFIER||234|||MLH1|processed_transcript|CODING|ENST00000466900||A),UPSTREAM(MODIFIER||234||460|MLH1|protein_coding|CODING|ENST00000536378||A),UPSTREAM(MODIFIER||613|||MLH1|processed_transcript|CODING|ENST00000485889||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 37038191 Sibling 22B C T . . Gene=MLH1;MT=SNP;MM=CM;CADD=17.51;VMM=73.09;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||756|MLH1|protein_coding|CODING||2|T),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T66|756|MLH1|protein_coding|CODING|ENST00000231790|2|T),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T57|678|MLH1|protein_coding|CODING|ENST00000456676|2|T|WARNING_TRANSCRIPT_NO_START_CODON),START_GAINED(LOW||||515|MLH1|protein_coding|CODING|ENST00000458205|2|T),START_GAINED(LOW||||515|MLH1|protein_coding|CODING|ENST00000539477|2|T),START_GAINED(LOW||||515|MLH1|protein_coding|CODING|ENST00000455445|2|T),START_GAINED(LOW||||104|MLH1|protein_coding|CODING|ENST00000441265|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||658|MLH1|protein_coding|CODING|ENST00000435176|2|T),START_GAINED(LOW||||82|MLH1|protein_coding|CODING|ENST00000429117|3|T|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||460|MLH1|protein_coding|CODING|ENST00000536378|2|T),UTR_5_PRIME(MODIFIER||17778||515|MLH1|protein_coding|CODING|ENST00000458205|2|T),UTR_5_PRIME(MODIFIER||17778||515|MLH1|protein_coding|CODING|ENST00000539477|2|T),UTR_5_PRIME(MODIFIER||17778||515|MLH1|protein_coding|CODING|ENST00000455445|2|T),UTR_5_PRIME(MODIFIER||17778||104|MLH1|protein_coding|CODING|ENST00000441265|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||4337||658|MLH1|protein_coding|CODING|ENST00000435176|2|T),UTR_5_PRIME(MODIFIER||4337||82|MLH1|protein_coding|CODING|ENST00000429117|3|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||17778||460|MLH1|protein_coding|CODING|ENST00000536378|2|T),UTR_3_PRIME(MODIFIER||76||38|MLH1|nonsense_mediated_decay|CODING|ENST00000457004|2|T),UTR_3_PRIME(MODIFIER||3006||48|MLH1|nonsense_mediated_decay|CODING|ENST00000432299|2|T),UTR_3_PRIME(MODIFIER||76||38|MLH1|nonsense_mediated_decay|CODING|ENST00000454028|2|T),UPSTREAM(MODIFIER||3396||607|EPM2AIP1|protein_coding|CODING|ENST00000322716||T),INTRON(MODIFIER||||38|MLH1|nonsense_mediated_decay|CODING|ENST00000442249|1|T),EXON(MODIFIER|||||MLH1|processed_transcript|CODING|ENST00000476172|3|T),EXON(MODIFIER|||||MLH1|processed_transcript|CODING|ENST00000492474|3|T),EXON(MODIFIER|||||MLH1|processed_transcript|CODING|ENST00000466900|2|T),EXON(MODIFIER|||||MLH1|processed_transcript|CODING|ENST00000485889|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 47333363 Sibling 23A C A . . Gene=TNS3;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R1247L|1445|TNS3|protein_coding|CODING|ENST00000311160|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R1007L|1205|TNS3|protein_coding|CODING|ENST00000355730|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R1247L|1445|TNS3|protein_coding|CODING|ENST00000398879|25|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 114172419 Sibling 23A C T . . Gene=KIAA0368;MT=SNP;MM=DN;CADD=22.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G996S|2017|KIAA0368|protein_coding|CODING|ENST00000259335|24|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G818S|1839|KIAA0368|protein_coding|CODING|ENST00000338205|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G824S|889|KIAA0368|protein_coding|CODING|ENST00000602447|22|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1554||129|KIAA0368|protein_coding|CODING|ENST00000374378||T),DOWNSTREAM(MODIFIER||1505|||RNA5SP294|rRNA|NON_CODING|ENST00000411306||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 85439579 Sibling 23A G A . . Gene=LRRIQ1;MT=SNP;MM=CM;CADD=14.68;VMM=30.66;EFF=INTRON(MODIFIER||||1722|LRRIQ1|protein_coding|CODING|ENST00000393217|4|A),INTRON(MODIFIER|||||LRRIQ1|retained_intron|CODING|ENST00000525971|4|A),INTRON(MODIFIER|||||LRRIQ1|retained_intron|CODING|ENST00000529408|4|A),INTRON(MODIFIER||||163|LRRIQ1|protein_coding|CODING|ENST00000393212|4|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||142|LRRIQ1|protein_coding|CODING|ENST00000533414|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 85450426 Sibling 23A G A . . Gene=LRRIQ1;MT=SNP;MM=CM;CADD=18.73;VMM=30.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E619K|1722|LRRIQ1|protein_coding|CODING|ENST00000393217|8|A),DOWNSTREAM(MODIFIER||1041||142|LRRIQ1|protein_coding|CODING|ENST00000533414||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||LRRIQ1|retained_intron|CODING|ENST00000525971|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136582549 Sibling 23A G A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=34;VMM=55.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R871C|920|BCLAF1|protein_coding|CODING|ENST00000531224|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000353331|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R76C|125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R822C|871|BCLAF1|protein_coding|CODING|ENST00000527536|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R698C|747|BCLAF1|protein_coding|CODING|ENST00000530767|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R869C|918|BCLAF1|protein_coding|CODING|ENST00000527759|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R89C|138|BCLAF1|protein_coding|CODING|ENST00000031135|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R137C|186|BCLAF1|protein_coding|CODING|ENST00000534762|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R820C|869|BCLAF1|protein_coding|CODING|ENST00000392348|9|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|A),UTR_3_PRIME(MODIFIER||12702||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|A),UTR_3_PRIME(MODIFIER||7853||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|A),UTR_3_PRIME(MODIFIER||7853||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|A),EXON(MODIFIER|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000526228|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136599775 Sibling 23A G C . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=14.01;VMM=55.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|920|BCLAF1|protein_coding|CODING|ENST00000531224|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q80E|869|BCLAF1|protein_coding|CODING|ENST00000353331|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|871|BCLAF1|protein_coding|CODING|ENST00000527536|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|747|BCLAF1|protein_coding|CODING|ENST00000530767|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q80E|918|BCLAF1|protein_coding|CODING|ENST00000527759|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q80E|467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q80E|750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q80E|869|BCLAF1|protein_coding|CODING|ENST00000392348|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Gaa|Q82E|724|BCLAF1|protein_coding|CODING|ENST00000529826|4|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||534||118|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533621||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||846|||BCLAF1|retained_intron|CODING|ENST00000528229||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 48129677 Sibling 23B C G . . Gene=MDGA2;MT=SNP;MM=HR;CADD=15.74;VMM=0;EFF=INTRON(MODIFIER||||956|MDGA2|protein_coding|CODING|ENST00000399232|1|G),INTRON(MODIFIER||||1025|MDGA2|protein_coding|CODING|ENST00000439988|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 11576094 Sibling 23B G A . . Gene=PTCHD2;MT=SNP;MM=CM;CADD=34;VMM=59.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R542H|1392|PTCHD2|protein_coding|CODING|ENST00000294484|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R542H|1392|PTCHD2|protein_coding|CODING|ENST00000389575|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 11594461 Sibling 23B C T . . Gene=PTCHD2;MT=SNP;MM=CM;CADD=14.71;VMM=59.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L20F|268|PTCHD2|protein_coding|CODING|ENST00000304391|2|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1133|1392|PTCHD2|protein_coding|CODING|ENST00000294484|18|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1133|1392|PTCHD2|protein_coding|CODING|ENST00000389575|18|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201184294 Sibling 23B C T . . Gene=IGFN1;MT=SNP;MM=CM;CADD=14.15;VMM=41.57;EFF=INTRON(MODIFIER||||3708|IGFN1|protein_coding|CODING|ENST00000335211|14|T),INTRON(MODIFIER||||570|IGFN1|protein_coding|CODING|ENST00000451870|15|T),INTRON(MODIFIER||||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|15|T),INTRON(MODIFIER||||608|IGFN1|protein_coding|CODING|ENST00000295591|14|T),INTRON(MODIFIER||||1125|IGFN1|protein_coding|CODING|ENST00000412892|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||IGFN1|retained_intron|CODING|ENST00000473483|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201185842 Sibling 23B G A . . Gene=IGFN1;MT=SNP;MM=CM;CADD=25.8;VMM=41.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E3186K|3708|IGFN1|protein_coding|CODING|ENST00000335211|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E346K|608|IGFN1|protein_coding|CODING|ENST00000295591|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E603K|1125|IGFN1|protein_coding|CODING|ENST00000412892|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||731||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|18|A),DOWNSTREAM(MODIFIER||731||570|IGFN1|protein_coding|CODING|ENST00000451870||A),EXON(MODIFIER|||||IGFN1|retained_intron|CODING|ENST00000473483|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 25744685 Sibling 23B G A . . Gene=AMER2;MT=SNP;MM=CM;CADD=26.2;VMM=39.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S358L|671|AMER2|protein_coding|CODING|ENST00000515384|1|A),NEXT_PROT[modified-residue:Phosphoserine](MODERATE||||671|AMER2|protein_coding|CODING||1|A),DOWNSTREAM(MODIFIER||2281|||AMER2-AS1|lincRNA|NON_CODING|ENST00000413501||A),INTRON(MODIFIER||||552|AMER2|protein_coding|CODING|ENST00000357816|2|A),INTRON(MODIFIER||||552|AMER2|protein_coding|CODING|ENST00000381853|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 25745871 Sibling 23B A G . . Gene=AMER2;MT=SNP;MM=CM;CADD=13.41;VMM=39.46;EFF=UTR_5_PRIME(MODIFIER||114||671|AMER2|protein_coding|CODING|ENST00000515384|1|G),UPSTREAM(MODIFIER||14||552|AMER2|protein_coding|CODING|ENST00000381853||G),DOWNSTREAM(MODIFIER||1095|||AMER2-AS1|lincRNA|NON_CODING|ENST00000413501||G),INTRON(MODIFIER||||552|AMER2|protein_coding|CODING|ENST00000357816|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15234355 Sibling 23B C T . . Gene=TEKT3;MT=SNP;MM=CM;CADD=24.4;VMM=33.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R183Q|490|TEKT3|protein_coding|CODING|ENST00000338696|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R183Q|490|TEKT3|protein_coding|CODING|ENST00000395930|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R183Q|225|TEKT3|nonsense_mediated_decay|CODING|ENST00000395931|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R17Q|192|TEKT3|protein_coding|CODING|ENST00000539245|4|T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||105||146|TEKT3|protein_coding|CODING|ENST00000536146||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||128||139|TEKT3|protein_coding|CODING|ENST00000539316||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||302||81|TEKT3|protein_coding|CODING|ENST00000543896||T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||TEKT3|retained_intron|CODING|ENST00000470325|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15243204 Sibling 23B T C . . Gene=TEKT3;MT=SNP;MM=CM;CADD=12.53;VMM=33.58;EFF=UPSTREAM(MODIFIER||1331||146|TEKT3|protein_coding|CODING|ENST00000536146||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||490|TEKT3|protein_coding|CODING|ENST00000338696|1|C),INTRON(MODIFIER||||490|TEKT3|protein_coding|CODING|ENST00000395930|2|C),INTRON(MODIFIER||||225|TEKT3|nonsense_mediated_decay|CODING|ENST00000395931|1|C),INTRON(MODIFIER||||192|TEKT3|protein_coding|CODING|ENST00000539245|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||139|TEKT3|protein_coding|CODING|ENST00000539316|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||81|TEKT3|protein_coding|CODING|ENST00000543896|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36047404 Sibling 23B AGA G . . Gene=HNF1B;MT=INDEL;MM=CM;CADD=19.18;VMM=37.2;EFF=DOWNSTREAM(MODIFIER||3149|||RP11-697E22.2|antisense|NON_CODING|ENST00000586163||G),INTRON(MODIFIER||||557|HNF1B|protein_coding|CODING|ENST00000225893|8|G),INTRON(MODIFIER||||531|HNF1B|protein_coding|CODING|ENST00000561193|8|G),INTRON(MODIFIER||||457|HNF1B|protein_coding|CODING|ENST00000427275|6|G),INTRON(MODIFIER||||548|HNF1B|protein_coding|CODING|ENST00000560016|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 36105315 Sibling 23B C T . . Gene=HNF1B;MT=SNP;MM=CM;CADD=16.92;VMM=37.2;EFF=UPSTREAM(MODIFIER||78||557|HNF1B|protein_coding|CODING|ENST00000225893||T),UPSTREAM(MODIFIER||265||531|HNF1B|protein_coding|CODING|ENST00000561193||T),UPSTREAM(MODIFIER||306||457|HNF1B|protein_coding|CODING|ENST00000427275||T),UPSTREAM(MODIFIER||306||548|HNF1B|protein_coding|CODING|ENST00000560016||T),EXON(MODIFIER|||||RP11-115K3.1|antisense|NON_CODING|ENST00000558143|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17760708 Sibling 23B T C . . Gene=KIF13A;MT=SNP;MM=CM;CADD=17.51;VMM=31.91;EFF=UTR_3_PRIME(MODIFIER||380||1749|KIF13A|protein_coding|CODING|ENST00000378814|38|C),UTR_3_PRIME(MODIFIER||380||801|KIF13A|protein_coding|CODING|ENST00000502297|16|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3216||1805|KIF13A|protein_coding|CODING|ENST00000259711||C),DOWNSTREAM(MODIFIER||3218||1757|KIF13A|protein_coding|CODING|ENST00000378843||C),DOWNSTREAM(MODIFIER||3218||1770|KIF13A|protein_coding|CODING|ENST00000378826||C),DOWNSTREAM(MODIFIER||3220||1770|KIF13A|protein_coding|CODING|ENST00000378816||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 17878929 Sibling 23B T A . . Gene=KIF13A;MT=SNP;MM=CM;CADD=16.21;VMM=31.91;EFF=INTRON(MODIFIER||||1805|KIF13A|protein_coding|CODING|ENST00000259711|3|A),INTRON(MODIFIER||||1749|KIF13A|protein_coding|CODING|ENST00000378814|3|A),INTRON(MODIFIER||||1757|KIF13A|protein_coding|CODING|ENST00000378843|3|A),INTRON(MODIFIER||||1770|KIF13A|protein_coding|CODING|ENST00000378826|3|A),INTRON(MODIFIER||||1770|KIF13A|protein_coding|CODING|ENST00000378816|3|A),INTRON(MODIFIER|||||KIF13A|processed_transcript|CODING|ENST00000507576|2|A),INTRON(MODIFIER|||||KIF13A|retained_intron|CODING|ENST00000505588|2|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ibling 23B C T . . Gene=ARHGEF10;MT=SNP;MM=CM;CADD=23.1;VMM=77.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H758Y|1369|ARHGEF10|protein_coding|CODING|ENST00000398564|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H733Y|1344|ARHGEF10|protein_coding|CODING|ENST00000349830|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H695Y|1306|ARHGEF10|protein_coding|CODING|ENST00000520359|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H757Y|1368|ARHGEF10|protein_coding|CODING|ENST00000518288|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H758Y|1340|ARHGEF10|protein_coding|CODING|ENST00000262112|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H406Y|988|ARHGEF10|protein_coding|CODING|ENST00000522435|10|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||179|||ARHGEF10|retained_intron|CODING|ENST00000519641||T),EXON(MODIFIER|||||ARHGEF10|retained_intron|CODING|ENST00000523711|11|T),EXON(MODIFIER|||||ARHGEF10|processed_transcript|CODING|ENST00000524212|4|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ibling 23B A G . . Gene=ARHGEF10;MT=SNP;MM=CM;CADD=25.6;VMM=77.79;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1058G|1369|ARHGEF10|protein_coding|CODING|ENST00000398564|26|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1033G|1344|ARHGEF10|protein_coding|CODING|ENST00000349830|26|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E995G|1306|ARHGEF10|protein_coding|CODING|ENST00000520359|25|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1057G|1368|ARHGEF10|protein_coding|CODING|ENST00000518288|27|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E1029G|1340|ARHGEF10|protein_coding|CODING|ENST00000262112|25|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E677G|988|ARHGEF10|protein_coding|CODING|ENST00000522435|16|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 108488751 Sibling 24A G A . . Gene=RGPD4;MT=SNP;MM=CM;CADD=25.6;VMM=77.35;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1431T|1766|RGPD4|protein_coding|CODING|ENST00000354986|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A1431T|1758|RGPD4|protein_coding|CODING|ENST00000408999|20|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 108496503 Sibling 24A C G . . Gene=RGPD4;MT=SNP;MM=CM;CADD=23;VMM=77.35;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caG|H1668Q|1766|RGPD4|protein_coding|CODING|ENST00000354986|21|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caC/caG|H1668Q|1758|RGPD4|protein_coding|CODING|ENST00000408999|21|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ibling 24A C T . . Gene=USP42;MT=SNP;MM=CM;CADD=24.6;VMM=74.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A166V|1316|USP42|protein_coding|CODING|ENST00000306177|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A99V|474|USP42|protein_coding|CODING|ENST00000465073|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A166V|219|USP42|nonsense_mediated_decay|CODING|ENST00000521713|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCa/gTa|A12V|1042|USP42|protein_coding|CODING|ENST00000426246|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||19018||174|USP42|nonsense_mediated_decay|CODING|ENST00000404008|6|T),EXON(MODIFIER|||||USP42|retained_intron|CODING|ENST00000479544|4|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ibling 24A C T . . Gene=USP42;MT=SNP;MM=CM;CADD=23.3;VMM=74.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H516Y|1316|USP42|protein_coding|CODING|ENST00000306177|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H449Y|474|USP42|protein_coding|CODING|ENST00000465073|12|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H362Y|1042|USP42|protein_coding|CODING|ENST00000426246|11|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||10544||219|USP42|nonsense_mediated_decay|CODING|ENST00000521713|12|T),DOWNSTREAM(MODIFIER||4167||174|USP42|nonsense_mediated_decay|CODING|ENST00000404008||T),EXON(MODIFIER|||||USP42|retained_intron|CODING|ENST00000479544|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 154836547 Sibling 24A C A . . Gene=MME;MT=SNP;MM=CNC;CADD=19.85;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|750|MME|protein_coding|CODING|ENST00000360490|8|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|750|MME|protein_coding|CODING|ENST00000492661|8|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|750|MME|protein_coding|CODING|ENST00000460393|8|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|232|MME|protein_coding|CODING|ENST00000481828|8|A|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|750|MME|protein_coding|CODING|ENST00000462745|8|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R223|750|MME|protein_coding|CODING|ENST00000493237|8|A),DOWNSTREAM(MODIFIER||3603||118|MME|protein_coding|CODING|ENST00000491026||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3681||92|MME|protein_coding|CODING|ENST00000473730||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2050||160|MME|protein_coding|CODING|ENST00000462837||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3611|||MME|processed_transcript|CODING|ENST00000477669||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 154836554 Sibling 24A G C . . Gene=MME;MT=SNP;MM=CNC;CADD=24.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|750|MME|protein_coding|CODING|ENST00000360490|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|750|MME|protein_coding|CODING|ENST00000492661|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|750|MME|protein_coding|CODING|ENST00000460393|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|232|MME|protein_coding|CODING|ENST00000481828|8|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|750|MME|protein_coding|CODING|ENST00000462745|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G225A|750|MME|protein_coding|CODING|ENST00000493237|8|C),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||750|MME|protein_coding|CODING||8|C),DOWNSTREAM(MODIFIER||3610||118|MME|protein_coding|CODING|ENST00000491026||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3688||92|MME|protein_coding|CODING|ENST00000473730||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2057||160|MME|protein_coding|CODING|ENST00000462837||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3618|||MME|processed_transcript|CODING|ENST00000477669||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 58312096 Sibling 24A T A . . Gene=VRK2;MT=SNP;MM=CNC;CADD=14.88;VMM=0;EFF=DOWNSTREAM(MODIFIER||34||81|VRK2|protein_coding|CODING|ENST00000428021||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000340157|4|A),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000435505|7|A),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000417641|6|A),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000412104|4|A),INTRON(MODIFIER||||59|VRK2|nonsense_mediated_decay|CODING|ENST00000432057|5|A),INTRON(MODIFIER||||485|VRK2|protein_coding|CODING|ENST00000440705|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 58312118 Sibling 24A T C . . Gene=VRK2;MT=SNP;MM=CNC;CADD=3.998;VMM=0;EFF=DOWNSTREAM(MODIFIER||56||81|VRK2|protein_coding|CODING|ENST00000428021||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000340157|4|C),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000435505|7|C),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000417641|6|C),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000412104|4|C),INTRON(MODIFIER||||59|VRK2|nonsense_mediated_decay|CODING|ENST00000432057|5|C),INTRON(MODIFIER||||485|VRK2|protein_coding|CODING|ENST00000440705|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 137026281 Sibling 24A A G . . Gene=MAP3K5;MT=SNP;MM=CNC;CADD=15.08;VMM=0;EFF=INTRON(MODIFIER||||1374|MAP3K5|protein_coding|CODING|ENST00000359015|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 137026307 Sibling 24A T C . . Gene=MAP3K5;MT=SNP;MM=CNC;CADD=4.534;VMM=0;EFF=INTRON(MODIFIER||||1374|MAP3K5|protein_coding|CODING|ENST00000359015|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 234862650 Sibling 24A C T . . Gene=TRPM8;MT=SNP;MM=CNC;CADD=11.59;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y410|1104|TRPM8|protein_coding|CODING|ENST00000324695|10|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y98|682|TRPM8|protein_coding|CODING|ENST00000433712|11|T),UTR_3_PRIME(MODIFIER||6645||325|TRPM8|nonsense_mediated_decay|CODING|ENST00000444298|11|T),INTRON(MODIFIER|||||AC005538.5|antisense|NON_CODING|ENST00000455991|1|T),EXON(MODIFIER|||||TRPM8|retained_intron|CODING|ENST00000487033|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 234862669 Sibling 24A T C . . Gene=TRPM8;MT=SNP;MM=CNC;CADD=11.4;VMM=0;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1104|TRPM8|protein_coding|CODING|ENST00000324695|10|C),SPLICE_SITE_REGION+INTRON(LOW||||682|TRPM8|protein_coding|CODING|ENST00000433712|11|C),SPLICE_SITE_REGION+INTRON(LOW||||325|TRPM8|nonsense_mediated_decay|CODING|ENST00000444298|11|C),SPLICE_SITE_REGION+INTRON(LOW|||||TRPM8|retained_intron|CODING|ENST00000487033|1|C),INTRON(MODIFIER|||||AC005538.5|antisense|NON_CODING|ENST00000455991|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 11253755 Sibling 25A G A . . Gene=ANGPTL7;MT=SNP;MM=DN;CADD=25.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R199H|346|ANGPTL7|protein_coding|CODING|ENST00000376819|3|A),INTRON(MODIFIER||||2549|MTOR|protein_coding|CODING|ENST00000361445|28|A),EXON(MODIFIER|||||ANGPTL7|processed_transcript|CODING|ENST00000476934|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 130789839 Sibling 25A T C . . Gene=GSDMC;MT=SNP;MM=HR;CADD=22.4;VMM=0;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||508|GSDMC|protein_coding|CODING|ENST00000276708|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 102054324 Sibling 25A T C . . Gene=PKD2L1;MT=SNP;MM=CM;CADD=24.2;VMM=74.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T543A|805|PKD2L1|protein_coding|CODING|ENST00000318222|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T468A|730|PKD2L1|protein_coding|CODING|ENST00000338519|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T543A|760|PKD2L1|protein_coding|CODING|ENST00000353274|9|C),UTR_3_PRIME(MODIFIER||34733||38|PKD2L1|nonsense_mediated_decay|CODING|ENST00000528248|9|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||61|PKD2L1|protein_coding|CODING|ENST00000465680|1|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 102089007 Sibling 25A G T . . Gene=PKD2L1;MT=SNP;MM=CM;CADD=23.5;VMM=74.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L104M|805|PKD2L1|protein_coding|CODING|ENST00000318222|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L104M|730|PKD2L1|protein_coding|CODING|ENST00000338519|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L104M|760|PKD2L1|protein_coding|CODING|ENST00000353274|2|T),NEXT_PROT[transmembrane-region:Transmembrane_region](LOW||||805|PKD2L1|protein_coding|CODING||2|T),UTR_3_PRIME(MODIFIER||50||38|PKD2L1|nonsense_mediated_decay|CODING|ENST00000528248|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||54||71|PKD2L1|nonsense_mediated_decay|CODING|ENST00000532547|2|T),INTRON(MODIFIER||||61|PKD2L1|protein_coding|CODING|ENST00000465680|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2593442 Sibling 25A G A . . Gene=CLUH;MT=SNP;MM=CM;CADD=19.33;VMM=83.9;EFF=UTR_3_PRIME(MODIFIER||446||1309|CLUH|protein_coding|CODING|ENST00000435359|26|A),UTR_3_PRIME(MODIFIER||446||1309|CLUH|protein_coding|CODING|ENST00000538975|25|A),UTR_3_PRIME(MODIFIER||446||1309|CLUH|protein_coding|CODING|ENST00000570628|26|A),UTR_3_PRIME(MODIFIER||446||1250|CLUH|protein_coding|CODING|ENST00000575014|25|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4533||410|PAFAH1B1|protein_coding|CODING|ENST00000397195||A),DOWNSTREAM(MODIFIER||1188|||RP11-74E22.6|lincRNA|NON_CODING|ENST00000608984||A),DOWNSTREAM(MODIFIER||1405|||CLUH|retained_intron|CODING|ENST00000574210||A),DOWNSTREAM(MODIFIER||1461||1235|CLUH|protein_coding|CODING|ENST00000574426||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2159|||CLUH|retained_intron|CODING|ENST00000572014||A),DOWNSTREAM(MODIFIER||4370|||CLUH|retained_intron|CODING|ENST00000574166||A),DOWNSTREAM(MODIFIER||4878|||CLUH|retained_intron|CODING|ENST00000573641||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2598703 Sibling 25A G A . . Gene=CLUH;MT=SNP;MM=CM;CADD=33;VMM=83.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R798W|1309|CLUH|protein_coding|CODING|ENST00000435359|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R798W|1309|CLUH|protein_coding|CODING|ENST00000538975|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R798W|1309|CLUH|protein_coding|CODING|ENST00000570628|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R739W|1250|CLUH|protein_coding|CODING|ENST00000575014|13|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||460|||CLUH|retained_intron|CODING|ENST00000574210||A),UPSTREAM(MODIFIER||1255|||CLUH|retained_intron|CODING|ENST00000572014||A),DOWNSTREAM(MODIFIER||296|||CLUH|retained_intron|CODING|ENST00000575624||A),DOWNSTREAM(MODIFIER||3139||159|CLUH|protein_coding|CODING|ENST00000572129||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1235|CLUH|protein_coding|CODING|ENST00000574426|13|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||CLUH|retained_intron|CODING|ENST00000574166|1|A),EXON(MODIFIER|||||CLUH|retained_intron|CODING|ENST00000573641|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 42847687 Sibling 25A C T . . Gene=MEGF8;MT=SNP;MM=CM;CADD=17.8;VMM=40.27;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S524|2845|MEGF8|protein_coding|CODING|ENST00000251268|9|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S524|2778|MEGF8|protein_coding|CODING|ENST00000334370|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 42880131 Sibling 25A C T . . Gene=MEGF8;MT=SNP;MM=CM;CADD=19.5;VMM=40.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T2581M|2845|MEGF8|protein_coding|CODING|ENST00000251268|42|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T2514M|2778|MEGF8|protein_coding|CODING|ENST00000334370|41|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T175M|439|MEGF8|protein_coding|CODING|ENST00000378073|4|T),UTR_3_PRIME(MODIFIER||331||178|MEGF8|protein_coding|CODING|ENST00000593647|4|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||17|||MEGF8|retained_intron|CODING|ENST00000599787||T),INTRON(MODIFIER||||69|MEGF8|protein_coding|CODING|ENST00000598762|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 21072025 Sibling 25A G A . . Gene=PI4KA;MT=SNP;MM=CM;CADD=23.2;VMM=30.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1763L|2102|PI4KA|protein_coding|CODING|ENST00000255882|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S515L|854|PI4KA|protein_coding|CODING|ENST00000414196|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1705L|2044|PI4KA|protein_coding|CODING|ENST00000572273|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S98L|435|PI4KA|protein_coding|CODING|ENST00000399213|3|A),UPSTREAM(MODIFIER||4744|||PI4KA|retained_intron|CODING|ENST00000482030||A),EXON(MODIFIER|||||PI4KA|retained_intron|CODING|ENST00000492581|3|A),EXON(MODIFIER|||||PI4KA|retained_intron|CODING|ENST00000477245|13|A),EXON(MODIFIER|||||PI4KA|retained_intron|CODING|ENST00000466772|5|A),EXON(MODIFIER|||||PI4KA|retained_intron|CODING|ENST00000466394|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 21153142 Sibling 25A TA T . . Gene=PI4KA;MT=INDEL;MM=CM;CADD=12.14;VMM=30.65;EFF=UPSTREAM(MODIFIER||2697|||PI4KA|retained_intron|CODING|ENST00000484220||T),DOWNSTREAM(MODIFIER||85|||PI4KA|retained_intron|CODING|ENST00000485950||T),INTRON(MODIFIER||||2102|PI4KA|protein_coding|CODING|ENST00000255882|16|T),INTRON(MODIFIER||||2044|PI4KA|protein_coding|CODING|ENST00000572273|16|T),INTRON(MODIFIER|||||PI4KA|retained_intron|CODING|ENST00000485963|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74394375 Sibling 26A G A . . Gene=UBE2O;MT=SNP;MM=CM;CADD=14.44;VMM=46.69;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I662|1292|UBE2O|protein_coding|CODING|ENST00000319380|12|A),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I175|806|UBE2O|protein_coding|CODING|ENST00000587127|4|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1495||187|UBE2O|protein_coding|CODING|ENST00000590658||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3437|||UBE2O|retained_intron|CODING|ENST00000586505||A),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586409|12|A),EXON(MODIFIER|||||UBE2O|processed_transcript|CODING|ENST00000587581|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74397144 Sibling 26A C A . . Gene=UBE2O;MT=SNP;MM=CM;CADD=28;VMM=46.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gTt|G281V|1292|UBE2O|protein_coding|CODING|ENST00000319380|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gTt|G65V|187|UBE2O|protein_coding|CODING|ENST00000590658|3|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1446||806|UBE2O|protein_coding|CODING|ENST00000587127||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1689|||UBE2O|processed_transcript|CODING|ENST00000587581||A),DOWNSTREAM(MODIFIER||668|||UBE2O|retained_intron|CODING|ENST00000586505||A),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586409|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50267424 Sibling 27A T TA . . Gene=NEMF;MT=INDEL;MM=CM;CADD=12.28;VMM=31.78;EFF=UPSTREAM(MODIFIER||4410||276|NEMF|protein_coding|CODING|ENST00000382135||TA),UPSTREAM(MODIFIER||4393|||NEMF|processed_transcript|CODING|ENST00000555863||TA),INTRON(MODIFIER||||1076|NEMF|protein_coding|CODING|ENST00000298310|22|TA),INTRON(MODIFIER||||1034|NEMF|protein_coding|CODING|ENST00000545773|21|TA),INTRON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000556925|15|TA),INTRON(MODIFIER||||1055|NEMF|protein_coding|CODING|ENST00000546046|21|TA),INTRON(MODIFIER||||997|NEMF|protein_coding|CODING|ENST00000555970|21|TA|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000555411|6|TA),EXON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000556691|1|TA),EXON(MODIFIER|||||NEMF|retained_intron|CODING|ENST00000556074|1|TA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50300172 Sibling 27A T C . . Gene=NEMF;MT=SNP;MM=CM;CADD=23.7;VMM=31.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y235C|1076|NEMF|protein_coding|CODING|ENST00000298310|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y193C|1034|NEMF|protein_coding|CODING|ENST00000545773|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y235C|1055|NEMF|protein_coding|CODING|ENST00000546046|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y193C|997|NEMF|protein_coding|CODING|ENST00000555970|7|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1201|||NEMF|processed_transcript|CODING|ENST00000556925||C),UPSTREAM(MODIFIER||4104|||NEMF|retained_intron|CODING|ENST00000553696||C),UPSTREAM(MODIFIER||4190|||NEMF|retained_intron|CODING|ENST00000556882||C),DOWNSTREAM(MODIFIER||638||19|AL627171.1|protein_coding|CODING|ENST00000358799||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||909||177|NEMF|protein_coding|CODING|ENST00000554626||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000557380|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 4787838 Sibling 28A G A . . Gene=C16orf71;MT=SNP;MM=CM;CADD=33;VMM=145.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R56Q|537|C16orf71|protein_coding|CODING|ENST00000590191|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R56Q|520|C16orf71|protein_coding|CODING|ENST00000299320|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R56Q|155|C16orf71|protein_coding|CODING|ENST00000586724|3|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3675||656|ANKS3|protein_coding|CODING|ENST00000304283||A),UPSTREAM(MODIFIER||3638||140|ANKS3|nonsense_mediated_decay|CODING|ENST00000590193||A),UPSTREAM(MODIFIER||3618||61|ANKS3|nonsense_mediated_decay|CODING|ENST00000592077||A),UPSTREAM(MODIFIER||3588||583|ANKS3|protein_coding|CODING|ENST00000585773||A),UPSTREAM(MODIFIER||3588||306|ANKS3|protein_coding|CODING|ENST00000450067||A),UPSTREAM(MODIFIER||3583||80|ANKS3|nonsense_mediated_decay|CODING|ENST00000590730||A),UPSTREAM(MODIFIER||3507||254|ANKS3|protein_coding|CODING|ENST00000586605||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3492||317|ANKS3|protein_coding|CODING|ENST00000592421||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3645||214|ANKS3|nonsense_mediated_decay|CODING|ENST00000592068||A),UPSTREAM(MODIFIER||3573||171|ANKS3|protein_coding|CODING|ENST00000586166||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3574||107|ANKS3|protein_coding|CODING|ENST00000592698||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3459||61|ANKS3|nonsense_mediated_decay|CODING|ENST00000586159||A),UPSTREAM(MODIFIER||3590||132|ANKS3|protein_coding|CODING|ENST00000589065||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3645|||ANKS3|retained_intron|CODING|ENST00000593120||A),UPSTREAM(MODIFIER||3710||114|ANKS3|protein_coding|CODING|ENST00000592711||A),UPSTREAM(MODIFIER||3633||61|ANKS3|nonsense_mediated_decay|CODING|ENST00000591281||A),UPSTREAM(MODIFIER||3645||126|ANKS3|nonsense_mediated_decay|CODING|ENST00000587005||A),UPSTREAM(MODIFIER||3677||165|ANKS3|protein_coding|CODING|ENST00000590147||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3609||162|ANKS3|protein_coding|CODING|ENST00000592190||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3642|||ANKS3|retained_intron|CODING|ENST00000590689||A),INTRON(MODIFIER|||||RP11-127I20.7|processed_transcript|NON_CODING|ENST00000588099|3|A),EXON(MODIFIER|||||C16orf71|retained_intron|CODING|ENST00000586256|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 4796942 Sibling 28A C T . . Gene=C16orf71;MT=SNP;MM=CM;CADD=28.6;VMM=145.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S416F|537|C16orf71|protein_coding|CODING|ENST00000590191|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S399F|520|C16orf71|protein_coding|CODING|ENST00000299320|8|T),DOWNSTREAM(MODIFIER||1298||480|ZNF500|protein_coding|CODING|ENST00000219478||T),DOWNSTREAM(MODIFIER||1303||72|ZNF500|protein_coding|CODING|ENST00000588942||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3851|||ZNF500|processed_transcript|CODING|ENST00000591026||T),DOWNSTREAM(MODIFIER||3873||441|ZNF500|protein_coding|CODING|ENST00000545009||T),INTRON(MODIFIER|||||RP11-127I20.7|processed_transcript|NON_CODING|ENST00000588099|1|T),EXON(MODIFIER|||||C16orf71|retained_intron|CODING|ENST00000586256|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 39164578 Sibling 28A C G . . Gene=ARHGEF33;MT=SNP;MM=CM;CADD=26.2;VMM=30.88;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P223R|870|ARHGEF33|protein_coding|CODING|ENST00000398800|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P223R|870|ARHGEF33|protein_coding|CODING|ENST00000409978|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P223R|844|ARHGEF33|protein_coding|CODING|ENST00000536934|7|G),UPSTREAM(MODIFIER||279|||RN7SL96P|misc_RNA|NON_CODING|ENST00000582641||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 39200020 Sibling 28A G A . . Gene=ARHGEF33;MT=SNP;MM=CM;CADD=11.06;VMM=30.88;EFF=DOWNSTREAM(MODIFIER||958||844|ARHGEF33|protein_coding|CODING|ENST00000536934||A),DOWNSTREAM(MODIFIER||3238|||ARHGEF33|processed_transcript|CODING|ENST00000430382||A),INTRON(MODIFIER||||870|ARHGEF33|protein_coding|CODING|ENST00000398800|15|A),INTRON(MODIFIER||||870|ARHGEF33|protein_coding|CODING|ENST00000409978|17|A),INTRON(MODIFIER|||||ARHGEF33|retained_intron|CODING|ENST00000486958|2|A),INTRON(MODIFIER||||108|ARHGEF33|protein_coding|CODING|ENST00000411874|3|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||108|ARHGEF33|protein_coding|CODING|ENST00000433605|3|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 31647276 Sibling 28A T G . . Gene=BPIFB3;MT=SNP;MM=CM;CADD=23.9;VMM=81.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aGg|M125R|476|BPIFB3|protein_coding|CODING|ENST00000375494|3|G),UPSTREAM(MODIFIER||1800|||AL121756.1|miRNA|NON_CODING|ENST00000579962||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 31652478 Sibling 28A G A . . Gene=BPIFB3;MT=SNP;MM=CM;CADD=25.7;VMM=81.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V251M|476|BPIFB3|protein_coding|CODING|ENST00000375494|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 42057449 Sibling 29A G T . . Gene=XRCC6;MT=SNP;MM=DN;CADD=24.7;VMM=0;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||609|XRCC6|protein_coding|CODING|ENST00000359308|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||609|XRCC6|protein_coding|CODING|ENST00000360079|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||568|XRCC6|protein_coding|CODING|ENST00000402580|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||476|XRCC6|protein_coding|CODING|ENST00000428575|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||609|XRCC6|protein_coding|CODING|ENST00000405878|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||559|XRCC6|protein_coding|CODING|ENST00000405506|10|T),EXON(MODIFIER|||||XRCC6|retained_intron|CODING|ENST00000478914|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118983537 Sibling 29A C T . . Gene=C2CD2L;MT=SNP;MM=CM;CADD=30;VMM=61.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T447I|707|C2CD2L|protein_coding|CODING|ENST00000336702|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T195I|391|C2CD2L|protein_coding|CODING|ENST00000528586|6|T),UPSTREAM(MODIFIER||4496||408|DPAGT1|protein_coding|CODING|ENST00000409993||T),INTRON(MODIFIER|||||C2CD2L|retained_intron|CODING|ENST00000529874|7|T),EXON(MODIFIER|||||C2CD2L|retained_intron|CODING|ENST00000525598|6|T),EXON(MODIFIER|||||C2CD2L|retained_intron|CODING|ENST00000533458|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118987409 Sibling 29A G A . . Gene=C2CD2L;MT=SNP;MM=CM;CADD=16.82;VMM=61.86;EFF=UTR_3_PRIME(MODIFIER||443||707|C2CD2L|protein_coding|CODING|ENST00000336702|14|A),UTR_3_PRIME(MODIFIER||652||391|C2CD2L|protein_coding|CODING|ENST00000528586|10|A),UPSTREAM(MODIFIER||4888||517|HINFP|protein_coding|CODING|ENST00000350777||A),UPSTREAM(MODIFIER||4892|||HINFP|retained_intron|CODING|ENST00000527206||A),UPSTREAM(MODIFIER||4893|||HINFP|retained_intron|CODING|ENST00000529354||A),UPSTREAM(MODIFIER||4910||99|HINFP|protein_coding|CODING|ENST00000529988||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4910|||HINFP|retained_intron|CODING|ENST00000531360||A),UPSTREAM(MODIFIER||4911|||HINFP|processed_transcript|CODING|ENST00000527354||A),UPSTREAM(MODIFIER||4917||419|HINFP|protein_coding|CODING|ENST00000527410||A),DOWNSTREAM(MODIFIER||2565|||C2CD2L|retained_intron|CODING|ENST00000529874||A),DOWNSTREAM(MODIFIER||3410|||C2CD2L|retained_intron|CODING|ENST00000533458||A),EXON(MODIFIER|||||C2CD2L|retained_intron|CODING|ENST00000525598|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 91434222 Sibling 29A C T . . Gene=FES;MT=SNP;MM=CM;CADD=18.33;VMM=37.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P444L|822|FES|protein_coding|CODING|ENST00000328850|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P444L|545|FES|nonsense_mediated_decay|CODING|ENST00000464684|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P386L|764|FES|protein_coding|CODING|ENST00000394300|9|T),DOWNSTREAM(MODIFIER||1614||121|FES|nonsense_mediated_decay|CODING|ENST00000470152||T),DOWNSTREAM(MODIFIER||3783||168|FES|protein_coding|CODING|ENST00000559355||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3977||146|FES|protein_coding|CODING|ENST00000452243||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1667|||FES|retained_intron|CODING|ENST00000497945||T),DOWNSTREAM(MODIFIER||1053|||FES|retained_intron|CODING|ENST00000494259||T),DOWNSTREAM(MODIFIER||467|||FES|retained_intron|CODING|ENST00000462476||T),INTRON(MODIFIER||||694|FES|protein_coding|CODING|ENST00000414248|9|T),INTRON(MODIFIER||||681|FES|protein_coding|CODING|ENST00000394302|9|T),INTRON(MODIFIER||||694|FES|protein_coding|CODING|ENST00000450438|8|T),INTRON(MODIFIER||||752|FES|protein_coding|CODING|ENST00000444422|9|T),INTRON(MODIFIER|||||FES|retained_intron|CODING|ENST00000496379|3|T),EXON(MODIFIER|||||FES|processed_transcript|CODING|ENST00000448367|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 91436548 Sibling 29A C G . . Gene=FES;MT=SNP;MM=CM;CADD=17.95;VMM=37.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T650R|822|FES|protein_coding|CODING|ENST00000328850|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T522R|694|FES|protein_coding|CODING|ENST00000414248|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T509R|681|FES|protein_coding|CODING|ENST00000394302|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T522R|694|FES|protein_coding|CODING|ENST00000450438|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T592R|764|FES|protein_coding|CODING|ENST00000394300|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T580R|752|FES|protein_coding|CODING|ENST00000444422|14|G),UTR_3_PRIME(MODIFIER||1701||545|FES|nonsense_mediated_decay|CODING|ENST00000464684|16|G),DOWNSTREAM(MODIFIER||3940||121|FES|nonsense_mediated_decay|CODING|ENST00000470152||G),DOWNSTREAM(MODIFIER||3993|||FES|retained_intron|CODING|ENST00000497945||G),DOWNSTREAM(MODIFIER||3379|||FES|retained_intron|CODING|ENST00000494259||G),DOWNSTREAM(MODIFIER||2296|||FES|processed_transcript|CODING|ENST00000448367||G),DOWNSTREAM(MODIFIER||909|||FES|retained_intron|CODING|ENST00000496379||G),DOWNSTREAM(MODIFIER||2793|||FES|retained_intron|CODING|ENST00000462476||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49339590 Sibling 29A G A . . Gene=HSD17B14;MT=SNP;MM=CM;CADD=24.8;VMM=128.7;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||270|HSD17B14|protein_coding|CODING||1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R27C|270|HSD17B14|protein_coding|CODING|ENST00000263278|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R27C|246|HSD17B14|protein_coding|CODING|ENST00000599157|1|A),UPSTREAM(MODIFIER||510||176|HSD17B14|protein_coding|CODING|ENST00000595764||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||764||779|PLEKHA4|protein_coding|CODING|ENST00000263265||A),DOWNSTREAM(MODIFIER||764||583|PLEKHA4|protein_coding|CODING|ENST00000355496||A),DOWNSTREAM(MODIFIER||777||118|PLEKHA4|protein_coding|CODING|ENST00000597129||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||850|||PLEKHA4|retained_intron|CODING|ENST00000601146||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49339623 Sibling 29A C A . . Gene=HSD17B14;MT=SNP;MM=CM;CADD=35;VMM=128.7;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||270|HSD17B14|protein_coding|CODING||1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G16W|270|HSD17B14|protein_coding|CODING|ENST00000263278|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Tgg|G16W|246|HSD17B14|protein_coding|CODING|ENST00000599157|1|A),UPSTREAM(MODIFIER||543||176|HSD17B14|protein_coding|CODING|ENST00000595764||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||731||779|PLEKHA4|protein_coding|CODING|ENST00000263265||A),DOWNSTREAM(MODIFIER||731||583|PLEKHA4|protein_coding|CODING|ENST00000355496||A),DOWNSTREAM(MODIFIER||744||118|PLEKHA4|protein_coding|CODING|ENST00000597129||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||817|||PLEKHA4|retained_intron|CODING|ENST00000601146||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 237817662 Sibling 30A T C . . Gene=RYR2;MT=SNP;MM=DN;CADD=25.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L2636P|4973|RYR2|protein_coding|CODING|ENST00000360064|53|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L2638P|4967|RYR2|protein_coding|CODING|ENST00000366574|52|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L2622P|4951|RYR2|protein_coding|CODING|ENST00000542537|51|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 29342270 Sibling 30A A G . . Gene=EPB41;MT=SNP;MM=CM;CADD=32;VMM=41.25;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||641|EPB41|protein_coding|CODING||7|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||588|EPB41|protein_coding|CODING||7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D299G|864|EPB41|protein_coding|CODING|ENST00000343067|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D299G|831|EPB41|protein_coding|CODING|ENST00000356093|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D299G|767|EPB41|protein_coding|CODING|ENST00000398863|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D90G|641|EPB41|protein_coding|CODING|ENST00000349460|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D90G|588|EPB41|protein_coding|CODING|ENST00000373800|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D264G|775|EPB41|protein_coding|CODING|ENST00000347529|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D299G|864|EPB41|protein_coding|CODING|ENST00000373798|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D299G|720|EPB41|protein_coding|CODING|ENST00000373797|6|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||864|EPB41|protein_coding|CODING||6|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||831|EPB41|protein_coding|CODING||6|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||641|EPB41|protein_coding|CODING||7|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||588|EPB41|protein_coding|CODING||7|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||775|EPB41|protein_coding|CODING||5|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||720|EPB41|protein_coding|CODING||6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 29446450 Sibling 30A C A . . Gene=EPB41;MT=SNP;MM=CM;CADD=11.82;VMM=41.25;EFF=UTR_3_PRIME(MODIFIER||4141||864|EPB41|protein_coding|CODING|ENST00000343067|21|A),UTR_3_PRIME(MODIFIER||967||307|TMEM200B|protein_coding|CODING|ENST00000420504|2|A),UTR_3_PRIME(MODIFIER||4141||831|EPB41|protein_coding|CODING|ENST00000356093|19|A),UTR_3_PRIME(MODIFIER||4141||767|EPB41|protein_coding|CODING|ENST00000398863|17|A),UTR_3_PRIME(MODIFIER||4141||864|EPB41|protein_coding|CODING|ENST00000373798|21|A),UTR_3_PRIME(MODIFIER||967||307|TMEM200B|protein_coding|CODING|ENST00000521452|2|A),DOWNSTREAM(MODIFIER||2824||641|EPB41|protein_coding|CODING|ENST00000349460||A),DOWNSTREAM(MODIFIER||2824||588|EPB41|protein_coding|CODING|ENST00000373800||A),DOWNSTREAM(MODIFIER||2824||775|EPB41|protein_coding|CODING|ENST00000347529||A),EXON(MODIFIER|||||EPB41|processed_transcript|CODING|ENST00000460378|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 38498886 Sibling 30A C A . . Gene=RARA;MT=SNP;MM=CM;CADD=20.9;VMM=34.25;EFF=NEXT_PROT[miscellaneous-site:Breakpoint_for_translocation_to_form_PLZF-RAR-alpha_RAR-alpha1-PLZF_and_PML-RAR-alpha_oncogenes](LOW||||462|RARA|protein_coding|CODING||2|A),UTR_5_PRIME(MODIFIER||71||457|RARA|protein_coding|CODING|ENST00000394081|1|A),UPSTREAM(MODIFIER||2607||185|RARA|protein_coding|CODING|ENST00000475125||A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||478|RARA|protein_coding|CODING|ENST00000394086|1|A),INTRON(MODIFIER||||65|RARA|protein_coding|CODING|ENST00000577646|3|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||462|RARA|protein_coding|CODING|ENST00000254066|2|A),INTRON(MODIFIER||||462|RARA|protein_coding|CODING|ENST00000394089|2|A),INTRON(MODIFIER||||365|RARA|protein_coding|CODING|ENST00000425707|2|A),EXON(MODIFIER|||||CTD-2267D19.2|antisense|NON_CODING|ENST00000581080|2|A),EXON(MODIFIER|||||RARA|processed_transcript|CODING|ENST00000579727|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 38513115 Sibling 30A C G . . Gene=RARA;MT=SNP;MM=CM;CADD=14.57;VMM=34.25;EFF=UPSTREAM(MODIFIER||3792||329|CTD-2267D19.3|protein_coding|CODING|ENST00000578774||G),DOWNSTREAM(MODIFIER||68||478|RARA|protein_coding|CODING|ENST00000394086||G),DOWNSTREAM(MODIFIER||4120||296|GJD3|protein_coding|CODING|ENST00000337376||G),DOWNSTREAM(MODIFIER||67||462|RARA|protein_coding|CODING|ENST00000254066||G),DOWNSTREAM(MODIFIER||532||462|RARA|protein_coding|CODING|ENST00000394089||G),DOWNSTREAM(MODIFIER||21||365|RARA|protein_coding|CODING|ENST00000425707||G),DOWNSTREAM(MODIFIER||68||457|RARA|protein_coding|CODING|ENST00000394081||G),DOWNSTREAM(MODIFIER||2454||185|RARA|protein_coding|CODING|ENST00000475125||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||650|||RARA|processed_transcript|CODING|ENST00000420042||G),INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 14530819 Sibling 30A T G . . Gene=GRIP2;MT=SNP;MM=CM;CADD=18.63;VMM=54.13;EFF=UTR_3_PRIME(MODIFIER||4304||620|SLC6A6|protein_coding|CODING|ENST00000360861|15|G),UTR_3_PRIME(MODIFIER||4304||620|SLC6A6|protein_coding|CODING|ENST00000454876|15|G),UTR_3_PRIME(MODIFIER||16998||359|SLC6A6|nonsense_mediated_decay|CODING|ENST00000458124|14|G),DOWNSTREAM(MODIFIER||4408||93|SLC6A6|protein_coding|CODING|ENST00000452151||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1859|||GRIP2|processed_transcript|NON_CODING|ENST00000430219||G),DOWNSTREAM(MODIFIER||4354|||GRIP2|processed_transcript|NON_CODING|ENST00000507975||G),EXON(MODIFIER|||||GRIP2|processed_transcript|NON_CODING|ENST00000273083|24|G),EXON(MODIFIER|||||GRIP2|processed_transcript|NON_CODING|ENST00000443613|24|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 14555171 Sibling 30A A C . . Gene=GRIP2;MT=SNP;MM=CM;CADD=23.9;VMM=54.13;EFF=SPLICE_SITE_DONOR+INTRON(HIGH|||||GRIP2|processed_transcript|NON_CODING|ENST00000273083|13|C),SPLICE_SITE_DONOR+INTRON(HIGH|||||GRIP2|processed_transcript|NON_CODING|ENST00000443613|13|C),SPLICE_SITE_DONOR+INTRON(HIGH|||||GRIP2|processed_transcript|NON_CODING|ENST00000507975|14|C),SPLICE_SITE_DONOR+INTRON(HIGH|||||GRIP2|processed_transcript|NON_CODING|ENST00000383795|13|C),UPSTREAM(MODIFIER||805|||GRIP2|processed_transcript|NON_CODING|ENST00000430219||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 50344824 Sibling 31A G C . . Gene=AQP2;MT=SNP;MM=DN;CADD=27.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V71L|271|AQP2|protein_coding|CODING|ENST00000199280|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V71L|223|AQP2|nonsense_mediated_decay|CODING|ENST00000551526|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V71L|243|AQP2|protein_coding|CODING|ENST00000550862|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3598|||RP11-469H8.8|antisense|NON_CODING|ENST00000552806||C),DOWNSTREAM(MODIFIER||471|||RP11-469H8.6|antisense|NON_CODING|ENST00000550530||C),DOWNSTREAM(MODIFIER||927|||RP11-469H8.6|antisense|NON_CODING|ENST00000552379||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 104084317 Sibling 31A G A . . Gene=STAB2;MT=SNP;MM=CM;CADD=27.2;VMM=135.75;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||2551|STAB2|protein_coding|CODING|ENST00000388887|30|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 104144393 Sibling 31A G A . . Gene=STAB2;MT=SNP;MM=CM;CADD=33;VMM=135.75;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G2159R|2551|STAB2|protein_coding|CODING|ENST00000388887|60|A),UPSTREAM(MODIFIER||4477|||STAB2|retained_intron|CODING|ENST00000548073||A),INTRON(MODIFIER|||||RP11-341G23.4|antisense|NON_CODING|ENST00000551299|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 89647121 Sibling 31A G A . . Gene=FOXN3;MT=SNP;MM=CM;CADD=29.4;VMM=42.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R281W|490|FOXN3|protein_coding|CODING|ENST00000261302|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R281W|490|FOXN3|protein_coding|CODING|ENST00000345097|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R259W|468|FOXN3|protein_coding|CODING|ENST00000557258|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R259W|468|FOXN3|protein_coding|CODING|ENST00000555353|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R129W|183|FOXN3|protein_coding|CODING|ENST00000553840|5|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||33||79|FOXN3|protein_coding|CODING|ENST00000557572||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||11|||FOXN3|processed_transcript|CODING|ENST00000557496||A),DOWNSTREAM(MODIFIER||13||76|FOXN3|nonsense_mediated_decay|CODING|ENST00000557718||A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||FOXN3|processed_transcript|CODING|ENST00000556541|2|A),EXON(MODIFIER|||||FOXN3|processed_transcript|CODING|ENST00000555010|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 89878599 Sibling 31A C T . . Gene=FOXN3;MT=SNP;MM=CM;CADD=12.95;VMM=42.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|490|FOXN3|protein_coding|CODING|ENST00000261302|1|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|490|FOXN3|protein_coding|CODING|ENST00000345097|2|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|468|FOXN3|protein_coding|CODING|ENST00000557258|2|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|468|FOXN3|protein_coding|CODING|ENST00000555353|2|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|207|FOXN3|protein_coding|CODING|ENST00000555855|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K74|92|FOXN3|protein_coding|CODING|ENST00000555034|3|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||230||183|FOXN3|protein_coding|CODING|ENST00000553840||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||238||76|FOXN3|nonsense_mediated_decay|CODING|ENST00000557718||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||197||110|FOXN3|protein_coding|CODING|ENST00000556916||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||220||91|FOXN3|nonsense_mediated_decay|CODING|ENST00000554005||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2786|||RP11-33N16.2|antisense|NON_CODING|ENST00000556383||T),DOWNSTREAM(MODIFIER||57|||RP11-33N16.3|processed_transcript|NON_CODING|ENST00000555070||T),DOWNSTREAM(MODIFIER||58||53|FOXN3|protein_coding|CODING|ENST00000553904||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50152463 Sibling 31A C A . . Gene=ATP8B4;MT=SNP;MM=CM;CADD=32;VMM=139.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W1169C|1192|ATP8B4|protein_coding|CODING|ENST00000284509|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W259C|282|ATP8B4|protein_coding|CODING|ENST00000558498|5|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W1169C|1192|ATP8B4|protein_coding|CODING|ENST00000559829|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W471C|494|ATP8B4|protein_coding|CODING|ENST00000560479|9|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||158704||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000559726|29|A),UTR_3_PRIME(MODIFIER||37973||717|ATP8B4|nonsense_mediated_decay|CODING|ENST00000557955|27|A),UTR_3_PRIME(MODIFIER||158704||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000558906|28|A),DOWNSTREAM(MODIFIER||191|||ATP8B4|retained_intron|CODING|ENST00000560354||A),EXON(MODIFIER|||||ATP8B4|retained_intron|CODING|ENST00000558203|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 50223504 Sibling 31A C T . . Gene=ATP8B4;MT=SNP;MM=CM;CADD=28.5;VMM=139.07;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGa/gAa|G485E|1192|ATP8B4|protein_coding|CODING|ENST00000284509|16|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGa/gAa|G485E|1192|ATP8B4|protein_coding|CODING|ENST00000559829|16|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGa/gAa|G485E|717|ATP8B4|nonsense_mediated_decay|CODING|ENST00000557955|16|T),SPLICE_SITE_REGION(LOW||||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000559726|17|T),UTR_3_PRIME(MODIFIER||87663||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000559726|17|T),UPSTREAM(MODIFIER||73||83|ATP8B4|nonsense_mediated_decay|CODING|ENST00000558458||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||122|ATP8B4|nonsense_mediated_decay|CODING|ENST00000558906|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 2268594 Sibling 32A A G . . Gene=SGSM2;MT=SNP;MM=HR;CADD=22.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y416C|1051|SGSM2|protein_coding|CODING|ENST00000268989|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y416C|1006|SGSM2|protein_coding|CODING|ENST00000426855|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y416C|987|SGSM2|protein_coding|CODING|ENST00000574563|11|G),UPSTREAM(MODIFIER||1228|||SGSM2|retained_intron|CODING|ENST00000575367||G),DOWNSTREAM(MODIFIER||3143||29|SGSM2|nonsense_mediated_decay|CODING|ENST00000572875||G),DOWNSTREAM(MODIFIER||335||316|SGSM2|nonsense_mediated_decay|CODING|ENST00000573062||G),DOWNSTREAM(MODIFIER||2255||70|SGSM2|protein_coding|CODING|ENST00000574650||G),DOWNSTREAM(MODIFIER||302||94|SGSM2|protein_coding|CODING|ENST00000570431||G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||SGSM2|retained_intron|CODING|ENST00000574857|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 27751990 Sibling 32A AC A . . Gene=KIAA0556;MT=INDEL;MM=CM;CADD=13.31;VMM=43.89;EFF=FRAME_SHIFT(HIGH||gac/|D791|1618|KIAA0556|protein_coding|CODING|ENST00000261588|15|A),INTRON(MODIFIER|||||KIAA0556|retained_intron|CODING|ENST00000573850|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 27772821 Sibling 32A C T . . Gene=KIAA0556;MT=SNP;MM=CM;CADD=29.2;VMM=43.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A1240V|1618|KIAA0556|protein_coding|CODING|ENST00000261588|19|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 79983379 Sibling 32A C T . . Gene=LRRC45;MT=SNP;MM=CM;CADD=16.54;VMM=48.56;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A219|670|LRRC45|protein_coding|CODING|ENST00000306688|5|T),UPSTREAM(MODIFIER||2624||131|STRA13|protein_coding|CODING|ENST00000584347||T),UPSTREAM(MODIFIER||1396||65|STRA13|protein_coding|CODING|ENST00000579520||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2645||75|STRA13|protein_coding|CODING|ENST00000584600||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2611||58|STRA13|protein_coding|CODING|ENST00000580435||T),UPSTREAM(MODIFIER||2585||63|STRA13|protein_coding|CODING|ENST00000306704||T),UPSTREAM(MODIFIER||2585||81|STRA13|protein_coding|CODING|ENST00000392359||T),UPSTREAM(MODIFIER||2682|||STRA13|processed_transcript|CODING|ENST00000584514||T),UPSTREAM(MODIFIER||2654|||STRA13|processed_transcript|CODING|ENST00000577379||T),UPSTREAM(MODIFIER||2630|||STRA13|processed_transcript|CODING|ENST00000580090||T),UPSTREAM(MODIFIER||2651|||STRA13|processed_transcript|CODING|ENST00000583767||T),UPSTREAM(MODIFIER||2619|||STRA13|retained_intron|CODING|ENST00000585091||T),UPSTREAM(MODIFIER||1303|||LRRC45|retained_intron|CODING|ENST00000583302||T),UPSTREAM(MODIFIER||1504||187|LRRC45|nonsense_mediated_decay|CODING|ENST00000581227||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3238|||LRRC45|retained_intron|CODING|ENST00000582083||T),DOWNSTREAM(MODIFIER||78|||LRRC45|processed_transcript|CODING|ENST00000583383||T),DOWNSTREAM(MODIFIER||63||5|LRRC45|protein_coding|CODING|ENST00000577638||T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 79987456 Sibling 32A G A . . Gene=LRRC45;MT=SNP;MM=CM;CADD=24.8;VMM=48.56;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R480H|670|LRRC45|protein_coding|CODING|ENST00000306688|14|A),UTR_3_PRIME(MODIFIER||535||187|LRRC45|nonsense_mediated_decay|CODING|ENST00000581227|9|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2044||192|RAC3|protein_coding|CODING|ENST00000306897||A),UPSTREAM(MODIFIER||2481||135|RAC3|protein_coding|CODING|ENST00000580965||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2604||129|RAC3|protein_coding|CODING|ENST00000584341||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3298|||RAC3|retained_intron|CODING|ENST00000585014||A),DOWNSTREAM(MODIFIER||4155|||LRRC45|processed_transcript|CODING|ENST00000583383||A),DOWNSTREAM(MODIFIER||4140||5|LRRC45|protein_coding|CODING|ENST00000577638||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||348|||LRRC45|retained_intron|CODING|ENST00000583302||A),INTRON(MODIFIER|||||LRRC45|retained_intron|CODING|ENST00000582083|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 58285431 Sibling 32A A T . . Gene=VRK2;MT=SNP;MM=CM;CADD=16.06;VMM=34.71;EFF=DOWNSTREAM(MODIFIER||4285|||AC073215.1|miRNA|NON_CODING|ENST00000515929||T),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000340157|2|T),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000435505|5|T),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000417641|4|T),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000412104|2|T),INTRON(MODIFIER||||59|VRK2|nonsense_mediated_decay|CODING|ENST00000432057|2|T),INTRON(MODIFIER||||485|VRK2|protein_coding|CODING|ENST00000440705|2|T),INTRON(MODIFIER||||81|VRK2|protein_coding|CODING|ENST00000428021|3|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 58373243 Sibling 32A T G . . Gene=VRK2;MT=SNP;MM=CM;CADD=19.05;VMM=34.71;EFF=INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000340157|11|G),INTRON(MODIFIER||||508|VRK2|protein_coding|CODING|ENST00000435505|14|G),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000417641|13|G),INTRON(MODIFIER||||396|VRK2|protein_coding|CODING|ENST00000412104|11|G),INTRON(MODIFIER||||59|VRK2|nonsense_mediated_decay|CODING|ENST00000432057|12|G),INTRON(MODIFIER||||485|VRK2|protein_coding|CODING|ENST00000440705|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 74592252 Sibling 32A C T . . Gene=DCTN1;MT=SNP;MM=CM;CADD=26.3;VMM=36.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1049Q|1278|DCTN1|protein_coding|CODING|ENST00000361874|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1042Q|1271|DCTN1|protein_coding|CODING|ENST00000394003|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R915Q|1144|DCTN1|protein_coding|CODING|ENST00000407639|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R915Q|1139|DCTN1|protein_coding|CODING|ENST00000409438|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1012Q|1236|DCTN1|protein_coding|CODING|ENST00000409240|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1032Q|1256|DCTN1|protein_coding|CODING|ENST00000409868|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1029Q|1253|DCTN1|protein_coding|CODING|ENST00000409567|23|T),UTR_3_PRIME(MODIFIER||1178||890|DCTN1|nonsense_mediated_decay|CODING|ENST00000434055|22|T),UPSTREAM(MODIFIER||1748||191|RP11-287D1.3|nonsense_mediated_decay|CODING|ENST00000451608||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||224|||DCTN1|retained_intron|CODING|ENST00000491465||T),UPSTREAM(MODIFIER||2196|||DCTN1|retained_intron|CODING|ENST00000492717||T),DOWNSTREAM(MODIFIER||332|||DCTN1|retained_intron|CODING|ENST00000495895||T),DOWNSTREAM(MODIFIER||847|||DCTN1|processed_transcript|CODING|ENST00000495643||T),INTRON(MODIFIER|||||DCTN1|processed_transcript|CODING|ENST00000497666|1|T),EXON(MODIFIER|||||DCTN1|retained_intron|CODING|ENST00000466110|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 74600188 Sibling 32A G A . . Gene=DCTN1;MT=SNP;MM=CM;CADD=12.47;VMM=36.1;EFF=UPSTREAM(MODIFIER||3666|||DCTN1|processed_transcript|CODING|ENST00000497666||A),UPSTREAM(MODIFIER||1019|||DCTN1|retained_intron|CODING|ENST00000466110||A),UPSTREAM(MODIFIER||1166|||DCTN1|retained_intron|CODING|ENST00000470351||A),DOWNSTREAM(MODIFIER||3680||120|DCTN1|protein_coding|CODING|ENST00000454119||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4371||134|DCTN1|protein_coding|CODING|ENST00000417090||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4632||86|DCTN1|protein_coding|CODING|ENST00000437375||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4939||75|DCTN1|protein_coding|CODING|ENST00000413111||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4939||75|DCTN1|protein_coding|CODING|ENST00000421392||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4975||63|DCTN1|protein_coding|CODING|ENST00000440727||A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1278|DCTN1|protein_coding|CODING|ENST00000361874|6|A),INTRON(MODIFIER||||1271|DCTN1|protein_coding|CODING|ENST00000394003|5|A),INTRON(MODIFIER||||1144|DCTN1|protein_coding|CODING|ENST00000407639|1|A),INTRON(MODIFIER||||890|DCTN1|nonsense_mediated_decay|CODING|ENST00000434055|4|A),INTRON(MODIFIER||||1139|DCTN1|protein_coding|CODING|ENST00000409438|1|A),INTRON(MODIFIER||||1236|DCTN1|protein_coding|CODING|ENST00000409240|4|A),INTRON(MODIFIER||||1256|DCTN1|protein_coding|CODING|ENST00000409868|6|A),INTRON(MODIFIER||||1253|DCTN1|protein_coding|CODING|ENST00000409567|4|A),INTRON(MODIFIER|||||DCTN1|processed_transcript|CODING|ENST00000463583|1|A),INTRON(MODIFIER|||||DCTN1|retained_intron|CODING|ENST00000477966|1|A),INTRON(MODIFIER||||185|DCTN1|protein_coding|CODING|ENST00000458655|6|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DCTN1|retained_intron|CODING|ENST00000462813|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31602654 Sibling 32A C T . . Gene=PRRC2A;MT=SNP;MM=CM;CADD=23.9;VMM=85.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P1687L|2157|PRRC2A|protein_coding|CODING|ENST00000376007|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P1687L|2157|PRRC2A|protein_coding|CODING|ENST00000376033|21|T),UPSTREAM(MODIFIER||365|||PRRC2A|retained_intron|CODING|ENST00000469501||T),UPSTREAM(MODIFIER||483|||PRRC2A|retained_intron|CODING|ENST00000487089||T),UPSTREAM(MODIFIER||499|||PRRC2A|retained_intron|CODING|ENST00000487839||T),UPSTREAM(MODIFIER||1370|||PRRC2A|retained_intron|CODING|ENST00000492691||T),UPSTREAM(MODIFIER||1659|||PRRC2A|retained_intron|CODING|ENST00000462617||T),UPSTREAM(MODIFIER||1958|||PRRC2A|retained_intron|CODING|ENST00000482441||T),DOWNSTREAM(MODIFIER||4152||1162|BAG6|protein_coding|CODING|ENST00000404765||T),DOWNSTREAM(MODIFIER||121|||PRRC2A|retained_intron|CODING|ENST00000460302||T),DOWNSTREAM(MODIFIER||4151|||BAG6|processed_transcript|CODING|ENST00000464869||T),DOWNSTREAM(MODIFIER||4151|||BAG6|processed_transcript|CODING|ENST00000464126||T),DOWNSTREAM(MODIFIER||4151||135|BAG6|protein_coding|CODING|ENST00000422948||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4151||225|BAG6|protein_coding|CODING|ENST00000441793||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4151||1126|BAG6|protein_coding|CODING|ENST00000375976||T),DOWNSTREAM(MODIFIER||4151||1126|BAG6|protein_coding|CODING|ENST00000211379||T),DOWNSTREAM(MODIFIER||4152||903|BAG6|protein_coding|CODING|ENST00000439687||T),DOWNSTREAM(MODIFIER||4152||1132|BAG6|protein_coding|CODING|ENST00000375964||T),DOWNSTREAM(MODIFIER||4164||1077|BAG6|protein_coding|CODING|ENST00000362049||T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000484787|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 31604894 Sibling 32A C T . . Gene=PRRC2A;MT=SNP;MM=CM;CADD=26.6;VMM=85.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2075W|2157|PRRC2A|protein_coding|CODING|ENST00000376007|29|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R2075W|2157|PRRC2A|protein_coding|CODING|ENST00000376033|29|T),DOWNSTREAM(MODIFIER||1912||1162|BAG6|protein_coding|CODING|ENST00000404765||T),DOWNSTREAM(MODIFIER||2361|||PRRC2A|retained_intron|CODING|ENST00000460302||T),DOWNSTREAM(MODIFIER||1801|||PRRC2A|retained_intron|CODING|ENST00000484787||T),DOWNSTREAM(MODIFIER||1408|||PRRC2A|retained_intron|CODING|ENST00000469501||T),DOWNSTREAM(MODIFIER||867|||PRRC2A|retained_intron|CODING|ENST00000487089||T),DOWNSTREAM(MODIFIER||306|||PRRC2A|retained_intron|CODING|ENST00000487839||T),DOWNSTREAM(MODIFIER||1911|||BAG6|processed_transcript|CODING|ENST00000464869||T),DOWNSTREAM(MODIFIER||1911|||BAG6|processed_transcript|CODING|ENST00000464126||T),DOWNSTREAM(MODIFIER||1911||135|BAG6|protein_coding|CODING|ENST00000422948||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1911||225|BAG6|protein_coding|CODING|ENST00000441793||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1911||1126|BAG6|protein_coding|CODING|ENST00000375976||T),DOWNSTREAM(MODIFIER||1911||1126|BAG6|protein_coding|CODING|ENST00000211379||T),DOWNSTREAM(MODIFIER||1912||903|BAG6|protein_coding|CODING|ENST00000439687||T),DOWNSTREAM(MODIFIER||1912||1132|BAG6|protein_coding|CODING|ENST00000375964||T),DOWNSTREAM(MODIFIER||1924||1077|BAG6|protein_coding|CODING|ENST00000362049||T),DOWNSTREAM(MODIFIER||3708|||BAG6|retained_intron|CODING|ENST00000462875||T),DOWNSTREAM(MODIFIER||4731|||BAG6|processed_transcript|CODING|ENST00000470875||T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000492691|4|T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000462617|2|T),EXON(MODIFIER|||||PRRC2A|retained_intron|CODING|ENST00000482441|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 211654518 Sibling 33A C A . . Gene=RD3;MT=SNP;MM=DN;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q80H|195|RD3|protein_coding|CODING|ENST00000367002|2|A),INTRON(MODIFIER|||||RD3|processed_transcript|CODING|ENST00000484910|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61004853 Sibling 33A G T . . Gene=PHYHIPL;MT=SNP;MM=DN;CADD=24;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K211N|376|PHYHIPL|protein_coding|CODING|ENST00000373880|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K185N|350|PHYHIPL|protein_coding|CODING|ENST00000373878|5|T),UTR_3_PRIME(MODIFIER||38296||49|PHYHIPL|nonsense_mediated_decay|CODING|ENST00000486074|6|T),DOWNSTREAM(MODIFIER||1041||606|FAM13C|protein_coding|CODING|ENST00000442566||T),DOWNSTREAM(MODIFIER||1037||501|FAM13C|protein_coding|CODING|ENST00000373867||T),DOWNSTREAM(MODIFIER||1040||585|FAM13C|protein_coding|CODING|ENST00000373868||T),DOWNSTREAM(MODIFIER||1043||605|FAM13C|protein_coding|CODING|ENST00000277705||T),DOWNSTREAM(MODIFIER||1043||50|FAM13C|nonsense_mediated_decay|CODING|ENST00000513059||T),DOWNSTREAM(MODIFIER||1086||487|FAM13C|protein_coding|CODING|ENST00000419214||T),DOWNSTREAM(MODIFIER||2474||502|FAM13C|protein_coding|CODING|ENST00000468840||T),DOWNSTREAM(MODIFIER||2599|||FAM13C|processed_transcript|CODING|ENST00000489341||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 110501412 Sibling 33A G A . . Gene=ARHGAP20;MT=SNP;MM=DN;CADD=24.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L98F|1191|ARHGAP20|protein_coding|CODING|ENST00000260283|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L72F|1165|ARHGAP20|protein_coding|CODING|ENST00000357139|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L75F|1168|ARHGAP20|protein_coding|CODING|ENST00000524756|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L62F|1155|ARHGAP20|protein_coding|CODING|ENST00000528829|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L62F|1155|ARHGAP20|protein_coding|CODING|ENST00000527598|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L72F|1165|ARHGAP20|protein_coding|CODING|ENST00000533353|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 2732304 Sibling 33A G T . . Gene=SMCHD1;MT=SNP;MM=DN;CADD=22.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L1030F|2005|SMCHD1|protein_coding|CODING|ENST00000320876|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L1030F|1917|SMCHD1|protein_coding|CODING|ENST00000261598|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttT|L501F|1388|SMCHD1|nonsense_mediated_decay|CODING|ENST00000577880|14|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||7379||149|SMCHD1|nonsense_mediated_decay|CODING|ENST00000584897|10|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3476|||SMCHD1|processed_transcript|CODING|ENST00000609587||T),INTRON(MODIFIER|||||RP11-703M24.5|antisense|NON_CODING|ENST00000583546|2|T),EXON(MODIFIER|||||SMCHD1|retained_intron|CODING|ENST00000581631|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 96112238 Sibling 33A G T . . Gene=ERAP1;MT=SNP;MM=DN;CADD=22.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S896R|948|ERAP1|protein_coding|CODING|ENST00000296754|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S896R|941|ERAP1|protein_coding|CODING|ENST00000443439|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agC/agA|S74R|143|ERAP1|protein_coding|CODING|ENST00000512852|3|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1851||791|CAST|protein_coding|CODING|ENST00000395813||T),DOWNSTREAM(MODIFIER||3301||695|CAST|protein_coding|CODING|ENST00000338252||T),DOWNSTREAM(MODIFIER||4855||791|CAST|protein_coding|CODING|ENST00000508830||T),DOWNSTREAM(MODIFIER||1851||756|CAST|protein_coding|CODING|ENST00000325674||T),DOWNSTREAM(MODIFIER||1851||772|CAST|protein_coding|CODING|ENST00000359176||T),DOWNSTREAM(MODIFIER||1851||750|CAST|protein_coding|CODING|ENST00000395812||T),DOWNSTREAM(MODIFIER||4855||769|CAST|protein_coding|CODING|ENST00000510756||T),DOWNSTREAM(MODIFIER||3842||754|CAST|protein_coding|CODING|ENST00000508608||T),DOWNSTREAM(MODIFIER||3720||708|CAST|protein_coding|CODING|ENST00000341926||T),DOWNSTREAM(MODIFIER||2964||693|CAST|protein_coding|CODING|ENST00000511049||T),DOWNSTREAM(MODIFIER||1851||686|CAST|protein_coding|CODING|ENST00000309190||T),DOWNSTREAM(MODIFIER||4855||673|CAST|protein_coding|CODING|ENST00000509903||T),DOWNSTREAM(MODIFIER||3748||694|CAST|protein_coding|CODING|ENST00000511782||T),DOWNSTREAM(MODIFIER||3642||636|CAST|protein_coding|CODING|ENST00000504465||T),DOWNSTREAM(MODIFIER||3715|||CAST|processed_transcript|CODING|ENST00000348386||T),DOWNSTREAM(MODIFIER||3479||464|CAST|protein_coding|CODING|ENST00000510500||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1851||435|CAST|protein_coding|CODING|ENST00000437034||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3721||423|CAST|protein_coding|CODING|ENST00000508579||T),DOWNSTREAM(MODIFIER||3828||431|CAST|protein_coding|CODING|ENST00000515663||T),DOWNSTREAM(MODIFIER||3122||449|CAST|nonsense_mediated_decay|CODING|ENST00000484552||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3480|||CAST|retained_intron|CODING|ENST00000509529||T),INTRON(MODIFIER||||203|CAST|nonsense_mediated_decay|CODING|ENST00000510098|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 180651547 Sibling 33A G T . . Gene=AX748230,TRIM41;MT=SNP;MM=DN;CADD=23.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C183F|630|TRIM41|protein_coding|CODING|ENST00000315073|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C183F|518|TRIM41|protein_coding|CODING|ENST00000351937|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGc/tTc|C163F|361|TRIM41|nonsense_mediated_decay|CODING|ENST00000503114|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1914|||MIR4638|miRNA|NON_CODING|ENST00000581158||T),UPSTREAM(MODIFIER||144|||TRIM41|retained_intron|CODING|ENST00000515834||T),DOWNSTREAM(MODIFIER||99|||CTC-338M12.7|antisense|NON_CODING|ENST00000499096||T),INTRON(MODIFIER||||190|TRIM41|protein_coding|CODING|ENST00000515499|1|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||TRIM41|retained_intron|CODING|ENST00000508930|1|T),EXON(MODIFIER|||||TRIM41|retained_intron|CODING|ENST00000515223|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 150745537 Sibling 33A C A . . Gene=ASIC3;MT=SNP;MM=DN;CADD=17.91;VMM=0;EFF=UTR_5_PRIME(MODIFIER||436||543|ASIC3|protein_coding|CODING|ENST00000357922|1|A),UPSTREAM(MODIFIER||436||549|ASIC3|protein_coding|CODING|ENST00000297512||A),UPSTREAM(MODIFIER||68||407|ASIC3|nonsense_mediated_decay|CODING|ENST00000377904||A),UPSTREAM(MODIFIER||238||531|ASIC3|protein_coding|CODING|ENST00000349064||A),UPSTREAM(MODIFIER||317||407|ASIC3|nonsense_mediated_decay|CODING|ENST00000468325||A),UPSTREAM(MODIFIER||1628|||ASIC3|retained_intron|CODING|ENST00000474135||A),UPSTREAM(MODIFIER||2470||143|ASIC3|protein_coding|CODING|ENST00000485929||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2763||149|ASIC3|protein_coding|CODING|ENST00000490540||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2784|||ASIC3|retained_intron|CODING|ENST00000498105||A),DOWNSTREAM(MODIFIER||2888||735|ABCB8|protein_coding|CODING|ENST00000297504||A),DOWNSTREAM(MODIFIER||668||718|ABCB8|protein_coding|CODING|ENST00000358849||A),DOWNSTREAM(MODIFIER||3041||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000482309||A),DOWNSTREAM(MODIFIER||3041||630|ABCB8|protein_coding|CODING|ENST00000542328||A),DOWNSTREAM(MODIFIER||2888||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000466514||A),DOWNSTREAM(MODIFIER||2888||467|ABCB8|protein_coding|CODING|ENST00000356058||A),DOWNSTREAM(MODIFIER||2887||693|ABCB8|protein_coding|CODING|ENST00000498578||A),DOWNSTREAM(MODIFIER||2888|||ABCB8|retained_intron|CODING|ENST00000482899||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 11152812 Sibling 33A G T . . Gene=MTMR9;MT=SNP;MM=DN;CADD=26.2;VMM=0;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||549|MTMR9|protein_coding|CODING|ENST00000221086|2|T),SPLICE_SITE_DONOR+INTRON(HIGH||||101|MTMR9|nonsense_mediated_decay|CODING|ENST00000530200|2|T),SPLICE_SITE_DONOR+INTRON(HIGH||||464|MTMR9|protein_coding|CODING|ENST00000526292|2|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||MTMR9|retained_intron|CODING|ENST00000528389|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 71037092 Sibling 33A G T . . Gene=NCOA2;MT=SNP;MM=DN;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q1309K|1464|NCOA2|protein_coding|CODING|ENST00000452400|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q397K|552|NCOA2|protein_coding|CODING|ENST00000267974|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cag/Aag|Q434K|589|NCOA2|protein_coding|CODING|ENST00000518363|8|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||13461||946|NCOA2|nonsense_mediated_decay|CODING|ENST00000518287|19|T),DOWNSTREAM(MODIFIER||1752|||NCOA2|retained_intron|CODING|ENST00000521239||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ibling 33A C T . . Gene=RFX3;MT=SNP;MM=HM;CADD=21.4;VMM=0;EFF=INTRON(MODIFIER||||749|RFX3|protein_coding|CODING|ENST00000382004|12|T),INTRON(MODIFIER||||707|RFX3|protein_coding|CODING|ENST00000358730|10|T),INTRON(MODIFIER||||707|RFX3|protein_coding|CODING|ENST00000302303|12|T),INTRON(MODIFIER||||173|RFX3|protein_coding|CODING|ENST00000458034|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 71898694 Sibling 33A G A . . Gene=LGR5;MT=SNP;MM=CM;CADD=15.7;VMM=46.89;EFF=INTRON(MODIFIER||||907|LGR5|protein_coding|CODING|ENST00000266674|2|A),INTRON(MODIFIER|||||LGR5|retained_intron|CODING|ENST00000550851|2|A),INTRON(MODIFIER||||835|LGR5|protein_coding|CODING|ENST00000536515|2|A),INTRON(MODIFIER||||883|LGR5|protein_coding|CODING|ENST00000540815|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 71947064 Sibling 33A G A . . Gene=LGR5;MT=SNP;MM=CM;CADD=25.5;VMM=46.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V214I|907|LGR5|protein_coding|CODING|ENST00000266674|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Att|V214I|883|LGR5|protein_coding|CODING|ENST00000540815|5|A),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||907|LGR5|protein_coding|CODING||5|A),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||883|LGR5|protein_coding|CODING||5|A),INTRON(MODIFIER||||835|LGR5|protein_coding|CODING|ENST00000536515|4|A),EXON(MODIFIER|||||LGR5|retained_intron|CODING|ENST00000550851|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 38204142 Sibling 33A G T . . Gene=GCAT;MT=SNP;MM=CM;CADD=13.79;VMM=50.82;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P56|445|GCAT|protein_coding|CODING|ENST00000323205|1|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P56|419|GCAT|protein_coding|CODING|ENST00000248924|1|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P56|176|GCAT|protein_coding|CODING|ENST00000445195|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P56|91|GCAT|nonsense_mediated_decay|CODING|ENST00000426858|1|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccT|P40|237|GCAT|protein_coding|CODING|ENST00000451984|1|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||700||194|H1F0|protein_coding|CODING|ENST00000340857||T),EXON(MODIFIER|||||GCAT|processed_transcript|CODING|ENST00000415371|1|T),EXON(MODIFIER|||||GCAT|retained_intron|CODING|ENST00000478203|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 38211739 Sibling 33A C T . . Gene=GCAT;MT=SNP;MM=CM;CADD=32;VMM=50.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S321F|445|GCAT|protein_coding|CODING|ENST00000323205|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S295F|419|GCAT|protein_coding|CODING|ENST00000248924|7|T),NEXT_PROT[miscellaneous-region:Pyridoxal_phosphate_binding](LOW||||445|GCAT|protein_coding|CODING||7|T),NEXT_PROT[miscellaneous-region:Pyridoxal_phosphate_binding](LOW||||419|GCAT|protein_coding|CODING||7|T),DOWNSTREAM(MODIFIER||2432||176|GCAT|protein_coding|CODING|ENST00000445195||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2247|||GCAT|processed_transcript|CODING|ENST00000415371||T),DOWNSTREAM(MODIFIER||2656|||GCAT|retained_intron|CODING|ENST00000478203||T),DOWNSTREAM(MODIFIER||524||91|GCAT|nonsense_mediated_decay|CODING|ENST00000426858||T),DOWNSTREAM(MODIFIER||2123||237|GCAT|protein_coding|CODING|ENST00000451984||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 187584530 Sibling 33A G A . . Gene=FAT1;MT=SNP;MM=CM;CADD=23;VMM=37.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1168L|4588|FAT1|protein_coding|CODING|ENST00000441802|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 187584682 Sibling 33A C A . . Gene=FAT1;MT=SNP;MM=CM;CADD=14.5;VMM=37.81;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtG/gtT|V1117|4588|FAT1|protein_coding|CODING|ENST00000441802|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 76350373 Sibling 33A T A . . Gene=SENP6;MT=SNP;MM=CM;CADD=20.1;VMM=62.69;EFF=UPSTREAM(MODIFIER||3427|||RNU6-1016P|snRNA|NON_CODING|ENST00000516689||A),INTRON(MODIFIER||||1112|SENP6|protein_coding|CODING|ENST00000370014|6|A),INTRON(MODIFIER||||1105|SENP6|protein_coding|CODING|ENST00000370010|5|A),INTRON(MODIFIER||||685|SENP6|protein_coding|CODING|ENST00000327284|5|A),INTRON(MODIFIER||||1112|SENP6|protein_coding|CODING|ENST00000447266|5|A),INTRON(MODIFIER||||219|SENP6|protein_coding|CODING|ENST00000483859|5|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||582|SENP6|protein_coding|CODING|ENST00000424947|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 76412746 Sibling 33A A T . . Gene=SENP6;MT=SNP;MM=CM;CADD=24.9;VMM=62.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Tat|N892Y|1112|SENP6|protein_coding|CODING|ENST00000370014|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Tat|N885Y|1105|SENP6|protein_coding|CODING|ENST00000370010|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aat/Tat|N892Y|1112|SENP6|protein_coding|CODING|ENST00000447266|19|T),INTRON(MODIFIER||||387|SENP6|nonsense_mediated_decay|CODING|ENST00000503501|9|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||368|SENP6|protein_coding|CODING|ENST00000541192|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 144769870 Sibling 33A G T . . Gene=UTRN;MT=SNP;MM=CM;CADD=33;VMM=35.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K679N|3433|UTRN|protein_coding|CODING|ENST00000367545|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 144854342 Sibling 33A G A . . Gene=UTRN;MT=SNP;MM=CM;CADD=10.31;VMM=35.42;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGt/gAt|G2060D|3433|UTRN|protein_coding|CODING|ENST00000367545|42|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 117165599 Sibling 33A C T . . Gene=DFNB31;MT=SNP;MM=CM;CADD=16.96;VMM=49.44;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T813|907|DFNB31|protein_coding|CODING|ENST00000362057|11|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T430|524|DFNB31|protein_coding|CODING|ENST00000265134|11|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T462|556|DFNB31|protein_coding|CODING|ENST00000374059|7|T),UPSTREAM(MODIFIER||4816|||RP11-9M16.2|lincRNA|NON_CODING|ENST00000448674||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 117168844 Sibling 33A G C . . Gene=DFNB31;MT=SNP;MM=CM;CADD=24.5;VMM=49.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P676R|907|DFNB31|protein_coding|CODING|ENST00000362057|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P293R|524|DFNB31|protein_coding|CODING|ENST00000265134|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cGc|P325R|556|DFNB31|protein_coding|CODING|ENST00000374059|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 61835057 Sibling 34A G A . . Gene=ANK3;MT=SNP;MM=CM;CADD=24.5;VMM=34.88;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1861M|4377|ANK3|protein_coding|CODING|ENST00000280772|37|A),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1861|ANK3|protein_coding|CODING||36|A),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1001|ANK3|protein_coding|CODING||13|A),NEXT_PROT[modified-residue:phosphoserine](MODERATE||||1868|ANK3|protein_coding|CODING||36|A),INTRON(MODIFIER||||1861|ANK3|protein_coding|CODING|ENST00000373827|36|A),INTRON(MODIFIER||||459|ANK3|protein_coding|CODING|ENST00000373820|3|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1001|ANK3|protein_coding|CODING|ENST00000355288|13|A),INTRON(MODIFIER||||1868|ANK3|protein_coding|CODING|ENST00000503366|36|A),INTRON(MODIFIER||||185|ANK3|protein_coding|CODING|ENST00000511043|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 62021659 Sibling 34A C T . . Gene=ANK3;MT=SNP;MM=CM;CADD=12.87;VMM=34.88;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T252|4377|ANK3|protein_coding|CODING|ENST00000280772|7|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T246|1861|ANK3|protein_coding|CODING|ENST00000373827|8|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T235|1868|ANK3|protein_coding|CODING|ENST00000503366|7|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T226|272|ANK3|protein_coding|CODING|ENST00000503925|7|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 53578730 Sibling 35A C T . . Gene=ZNF740;MT=SNP;MM=DN;CADD=28.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A22V|193|ZNF740|protein_coding|CODING|ENST00000416904|3|T),UPSTREAM(MODIFIER||4350||520|CSAD|protein_coding|CODING|ENST00000267085||T),UPSTREAM(MODIFIER||4300||346|CSAD|protein_coding|CODING|ENST00000379843||T),UPSTREAM(MODIFIER||4350||518|CSAD|protein_coding|CODING|ENST00000379850||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4350||346|CSAD|protein_coding|CODING|ENST00000379846||T),UPSTREAM(MODIFIER||4037||493|CSAD|protein_coding|CODING|ENST00000444623||T),UPSTREAM(MODIFIER||4300||493|CSAD|protein_coding|CODING|ENST00000453446||T),UPSTREAM(MODIFIER||3595||152|CSAD|protein_coding|CODING|ENST00000542115||T),UPSTREAM(MODIFIER||4300||162|CSAD|protein_coding|CODING|ENST00000437073||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4348||145|CSAD|protein_coding|CODING|ENST00000424990||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||439|||ZNF740|retained_intron|CODING|ENST00000549739||T),UPSTREAM(MODIFIER||2661|||ZNF740|processed_transcript|CODING|ENST00000551514||T),EXON(MODIFIER|||||ZNF740|retained_intron|CODING|ENST00000552593|3|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ibling 35A C A . . Gene=LARP4B;MT=SNP;MM=CM;CADD=22.3;VMM=48.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C679F|738|LARP4B|protein_coding|CODING|ENST00000316157|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C279F|338|LARP4B|protein_coding|CODING|ENST00000448368|6|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1335||189|LARP4B|protein_coding|CODING|ENST00000440895||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1335|||LARP4B|retained_intron|CODING|ENST00000608970||A),DOWNSTREAM(MODIFIER||1655|||LARP4B|processed_transcript|CODING|ENST00000469487||A),EXON(MODIFIER|||||LARP4B|retained_intron|CODING|ENST00000609318|4|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ibling 35A G A . . Gene=LARP4B;MT=SNP;MM=CM;CADD=18.28;VMM=48.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A338V|738|LARP4B|protein_coding|CODING|ENST00000316157|10|A),UPSTREAM(MODIFIER||4253||338|LARP4B|protein_coding|CODING|ENST00000448368||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 126682443 Sibling 35A G T . . Gene=CTBP2;MT=SNP;MM=CM;CADD=28;VMM=88.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H838N|985|CTBP2|protein_coding|CODING|ENST00000309035|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H298N|445|CTBP2|protein_coding|CODING|ENST00000337195|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H366N|513|CTBP2|protein_coding|CODING|ENST00000334808|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H298N|445|CTBP2|protein_coding|CODING|ENST00000531469|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H298N|445|CTBP2|protein_coding|CODING|ENST00000494626|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H298N|445|CTBP2|protein_coding|CODING|ENST00000411419|8|T),DOWNSTREAM(MODIFIER||3918|||CTBP2|retained_intron|CODING|ENST00000486955||T),EXON(MODIFIER|||||CTBP2|processed_transcript|CODING|ENST00000395705|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 126715118 Sibling 35A C T . . Gene=CTBP2;MT=SNP;MM=CM;CADD=23.3;VMM=88.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R404H|985|CTBP2|protein_coding|CODING|ENST00000309035|1|T),INTRON(MODIFIER||||445|CTBP2|protein_coding|CODING|ENST00000337195|3|T),INTRON(MODIFIER||||445|CTBP2|protein_coding|CODING|ENST00000531469|3|T),INTRON(MODIFIER||||445|CTBP2|protein_coding|CODING|ENST00000494626|3|T),INTRON(MODIFIER||||445|CTBP2|protein_coding|CODING|ENST00000411419|3|T),INTRON(MODIFIER|||||CTBP2|processed_transcript|CODING|ENST00000460976|2|T),INTRON(MODIFIER|||||CTBP2|processed_transcript|CODING|ENST00000493552|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 130059701 Sibling 35A G A . . Gene=ST14;MT=SNP;MM=CM;CADD=23.5;VMM=36.53;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E170K|855|ST14|protein_coding|CODING|ENST00000278742|5|A),UPSTREAM(MODIFIER||235|||ST14|retained_intron|CODING|ENST00000524718||A),UPSTREAM(MODIFIER||417|||ST14|retained_intron|CODING|ENST00000530376||A),EXON(MODIFIER|||||ST14|retained_intron|CODING|ENST00000530532|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 130079574 Sibling 35A C T . . Gene=ST14;MT=SNP;MM=CM;CADD=13.84;VMM=36.53;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P808|855|ST14|protein_coding|CODING|ENST00000278742|19|T),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||855|ST14|protein_coding|CODING||19|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 50108255 Sibling 35A G A . . Gene=RCBTB1;MT=SNP;MM=CM;CADD=11.49;VMM=30.02;EFF=UTR_3_PRIME(MODIFIER||3||531|RCBTB1|protein_coding|CODING|ENST00000258646|11|A),UTR_3_PRIME(MODIFIER||3||531|RCBTB1|protein_coding|CODING|ENST00000378302|13|A),EXON(MODIFIER|||||RCBTB1|processed_transcript|CODING|ENST00000471984|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 50141351 Sibling 35A C T . . Gene=RCBTB1;MT=SNP;MM=CM;CADD=24.3;VMM=30.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R22Q|531|RCBTB1|protein_coding|CODING|ENST00000258646|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R22Q|531|RCBTB1|protein_coding|CODING|ENST00000378302|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R22Q|355|RCBTB1|protein_coding|CODING|ENST00000546015|3|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ibling 35A G A . . Gene=ABR;MT=SNP;MM=CM;CADD=18.26;VMM=54.07;EFF=UPSTREAM(MODIFIER||141||187|ABR|protein_coding|CODING|ENST00000574544||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2609||167|ABR|protein_coding|CODING|ENST00000570441||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||859|ABR|protein_coding|CODING|ENST00000302538|8|A),INTRON(MODIFIER||||813|ABR|protein_coding|CODING|ENST00000544583|8|A),INTRON(MODIFIER||||813|ABR|protein_coding|CODING|ENST00000574437|7|A),INTRON(MODIFIER||||822|ABR|protein_coding|CODING|ENST00000291107|7|A),INTRON(MODIFIER||||641|ABR|protein_coding|CODING|ENST00000536794|3|A),INTRON(MODIFIER|||||ABR|processed_transcript|CODING|ENST00000576964|4|A),INTRON(MODIFIER||||164|ABR|protein_coding|CODING|ENST00000571945|3|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ABR|retained_intron|CODING|ENST00000573667|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 1028676 Sibling 35A C T . . Gene=ABR;MT=SNP;MM=CM;CADD=24.4;VMM=54.07;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D30N|859|ABR|protein_coding|CODING|ENST00000302538|2|T),UTR_5_PRIME(MODIFIER||51||813|ABR|protein_coding|CODING|ENST00000544583|2|T),UTR_5_PRIME(MODIFIER||51||813|ABR|protein_coding|CODING|ENST00000574437|1|T),UTR_5_PRIME(MODIFIER||51||132|ABR|protein_coding|CODING|ENST00000575934|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||51||128|ABR|protein_coding|CODING|ENST00000574139|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||51||87|ABR|protein_coding|CODING|ENST00000570525|2|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||51||85|ABR|protein_coding|CODING|ENST00000574266|3|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ABR|processed_transcript|CODING|ENST00000574632|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 5966569 Sibling 35A T G . . Gene=MCM8;MT=SNP;MM=CM;CADD=24.7;VMM=41.49;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gTg/gGg|V692G|880|MCM8|protein_coding|CODING|ENST00000378886|16|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gTg/gGg|V605G|793|MCM8|protein_coding|CODING|ENST00000378883|15|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gTg/gGg|V652G|840|MCM8|protein_coding|CODING|ENST00000378896|16|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gTg/gGg|V636G|824|MCM8|protein_coding|CODING|ENST00000265187|16|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 5975189 Sibling 35A A G . . Gene=MCM8;MT=SNP;MM=CM;CADD=14.67;VMM=41.49;EFF=UTR_3_PRIME(MODIFIER||152||793|MCM8|protein_coding|CODING|ENST00000378883|18|G),UTR_3_PRIME(MODIFIER||152||840|MCM8|protein_coding|CODING|ENST00000378896|19|G),UTR_3_PRIME(MODIFIER||152||824|MCM8|protein_coding|CODING|ENST00000265187|19|G),DOWNSTREAM(MODIFIER||114||880|MCM8|protein_coding|CODING|ENST00000378886||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70308251 Sibling 35A C T . . Gene=NAIP;MT=SNP;MM=CNC;CADD=14.72;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A164|1403|NAIP|protein_coding|CODING|ENST00000194097|2|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A164|1403|NAIP|protein_coding|CODING|ENST00000517649|4|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A164|1347|NAIP|protein_coding|CODING|ENST00000508426|2|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A164|198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|2|T),UPSTREAM(MODIFIER||652||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|T),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|T),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70308262 Sibling 35A C T . . Gene=NAIP;MT=SNP;MM=CNC;CADD=12.57;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A161T|1403|NAIP|protein_coding|CODING|ENST00000194097|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A161T|1403|NAIP|protein_coding|CODING|ENST00000517649|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A161T|1347|NAIP|protein_coding|CODING|ENST00000508426|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A161T|198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|2|T),UPSTREAM(MODIFIER||663||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|T),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|T),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70308422 Sibling 35A G A . . Gene=NAIP;MT=SNP;MM=CNC;CADD=8.086;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A107|1403|NAIP|protein_coding|CODING|ENST00000194097|2|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A107|1403|NAIP|protein_coding|CODING|ENST00000517649|4|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A107|1347|NAIP|protein_coding|CODING|ENST00000508426|2|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A107|198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|2|A),UPSTREAM(MODIFIER||823||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|A),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|A),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70308527 Sibling 35A C T . . Gene=NAIP;MT=SNP;MM=CNC;CADD=11.81;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P72|1403|NAIP|protein_coding|CODING|ENST00000194097|2|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P72|1403|NAIP|protein_coding|CODING|ENST00000517649|4|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P72|1347|NAIP|protein_coding|CODING|ENST00000508426|2|T),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P72|198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|2|T),UPSTREAM(MODIFIER||928||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|T),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|T),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70308554 Sibling 35A C A . . Gene=NAIP;MT=SNP;MM=CNC;CADD=24.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R63S|1403|NAIP|protein_coding|CODING|ENST00000194097|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R63S|1403|NAIP|protein_coding|CODING|ENST00000517649|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R63S|1347|NAIP|protein_coding|CODING|ENST00000508426|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R63S|198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|2|A),UPSTREAM(MODIFIER||955||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|A),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|A),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70307162 Sibling 35A C T . . Gene=NAIP;MT=SNP;MM=CNC;CADD=24.9;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1403|NAIP|protein_coding|CODING||3|T),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1403|NAIP|protein_coding|CODING||5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C203Y|1403|NAIP|protein_coding|CODING|ENST00000194097|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C203Y|1403|NAIP|protein_coding|CODING|ENST00000517649|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C203Y|1347|NAIP|protein_coding|CODING|ENST00000508426|3|T),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||1403|NAIP|protein_coding|CODING||5|T),UTR_3_PRIME(MODIFIER||423||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012|2|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||423||198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|4|T),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|T),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|T),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 70307189 Sibling 35A G A . . Gene=NAIP;MT=SNP;MM=CNC;CADD=23.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T194M|1403|NAIP|protein_coding|CODING|ENST00000194097|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T194M|1403|NAIP|protein_coding|CODING|ENST00000517649|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T194M|1347|NAIP|protein_coding|CODING|ENST00000508426|3|A),UTR_3_PRIME(MODIFIER||396||4|NAIP|nonsense_mediated_decay|CODING|ENST00000447012|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||396||198|NAIP|nonsense_mediated_decay|CODING|ENST00000519014|4|A),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000523981|3|A),INTRON(MODIFIER||||1241|NAIP|protein_coding|CODING|ENST00000503719|2|A),INTRON(MODIFIER|||||NAIP|retained_intron|CODING|ENST00000508794|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 38463804 Sibling 36A C G . . Gene=FHL3;MT=SNP;MM=DN;CADD=23.6;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gGg/gCg|G111A|280|FHL3|protein_coding|CODING|ENST00000373016|4|G),SPLICE_SITE_REGION+EXON(LOW|||||FHL3|processed_transcript|CODING|ENST00000485803|3|G),SPLICE_SITE_REGION+EXON(LOW|||||FHL3|processed_transcript|CODING|ENST00000477194|4|G),DOWNSTREAM(MODIFIER||586|||FHL3|processed_transcript|CODING|ENST00000483132||G),INTRON(MODIFIER|||||FHL3|processed_transcript|CODING|ENST00000475084|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 118535192 Sibling 36A G A . . Gene=SPAG17;MT=SNP;MM=CM;CADD=25.4;VMM=82.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1753L|2223|SPAG17|protein_coding|CODING|ENST00000336338|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P233L|660|SPAG17|protein_coding|CODING|ENST00000437255|6|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4577|||SPAG17|processed_transcript|CODING|ENST00000483383||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 118609491 Sibling 36A C A . . Gene=SPAG17;MT=SNP;MM=CM;CADD=24.3;VMM=82.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tTt|C806F|2223|SPAG17|protein_coding|CODING|ENST00000336338|18|A),INTRON(MODIFIER|||||SPAG17|processed_transcript|CODING|ENST00000477444|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 10783767 Sibling 36A G A . . Gene=STYK1;MT=SNP;MM=CM;CADD=34;VMM=93.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R110W|422|STYK1|protein_coding|CODING|ENST00000075503|5|A),UPSTREAM(MODIFIER||1530||81|STYK1|protein_coding|CODING|ENST00000542924||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||66||86|STYK1|protein_coding|CODING|ENST00000542562||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||79||82|STYK1|protein_coding|CODING|ENST00000538867||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2813||64|STYK1|protein_coding|CODING|ENST00000535345||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2887||39|STYK1|protein_coding|CODING|ENST00000541561||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 10826653 Sibling 36A C T . . Gene=STYK1;MT=SNP;MM=CM;CADD=20.3;VMM=93.24;EFF=UTR_5_PRIME(MODIFIER||39436||422|STYK1|protein_coding|CODING|ENST00000075503|1|T),UTR_5_PRIME(MODIFIER||39436||39|STYK1|protein_coding|CODING|ENST00000541561|1|T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4||86|STYK1|protein_coding|CODING|ENST00000542562||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||396||82|STYK1|protein_coding|CODING|ENST00000538867||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||24||64|STYK1|protein_coding|CODING|ENST00000535345||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 78325598 Sibling 36A C T . . Gene=ADCK1;MT=SNP;MM=CM;CADD=13.34;VMM=30.65;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V133|523|ADCK1|protein_coding|CODING|ENST00000238561|4|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V133|218|ADCK1|nonsense_mediated_decay|CODING|ENST00000393639|4|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V133|264|ADCK1|protein_coding|CODING|ENST00000557501|4|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||148||122|ADCK1|nonsense_mediated_decay|CODING|ENST00000556048|5|T),INTRON(MODIFIER||||455|ADCK1|protein_coding|CODING|ENST00000341211|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 78397983 Sibling 36A C T . . Gene=ADCK1;MT=SNP;MM=CM;CADD=20.8;VMM=30.65;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A443|523|ADCK1|protein_coding|CODING|ENST00000238561|10|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A375|455|ADCK1|protein_coding|CODING|ENST00000341211|9|T),EXON(MODIFIER|||||ADCK1|processed_transcript|CODING|ENST00000556560|4|T),EXON(MODIFIER|||||ADCK1|retained_intron|CODING|ENST00000555217|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 2048729 Sibling 36A C T . . Gene=MYOM2;MT=SNP;MM=CM;CADD=32;VMM=115.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A835V|1465|MYOM2|protein_coding|CODING|ENST00000262113|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A260V|890|MYOM2|protein_coding|CODING|ENST00000523438|7|T),UPSTREAM(MODIFIER||1064|||MYOM2|processed_transcript|CODING|ENST00000517520||T),EXON(MODIFIER|||||MYOM2|processed_transcript|CODING|ENST00000519372|3|T),EXON(MODIFIER|||||MYOM2|processed_transcript|CODING|ENST00000518203|2|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ibling 36A A G . . Gene=MYOM2;MT=SNP;MM=CM;CADD=24.9;VMM=115.03;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y927C|1465|MYOM2|protein_coding|CODING|ENST00000262113|22|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y352C|890|MYOM2|protein_coding|CODING|ENST00000523438|9|G),UPSTREAM(MODIFIER||3001|||MYOM2|retained_intron|CODING|ENST00000523443||G),EXON(MODIFIER|||||MYOM2|processed_transcript|CODING|ENST00000519372|5|G),EXON(MODIFIER|||||MYOM2|processed_transcript|CODING|ENST00000518203|4|G),EXON(MODIFIER|||||MYOM2|processed_transcript|CODING|ENST00000517520|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 101008701 Sibling 36A C T . . Gene=RGS22;MT=SNP;MM=CM;CADD=22.9;VMM=40.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G1003R|1264|RGS22|protein_coding|CODING|ENST00000360863|20|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G822R|1083|RGS22|protein_coding|CODING|ENST00000523287|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G991R|1252|RGS22|protein_coding|CODING|ENST00000523437|20|T),DOWNSTREAM(MODIFIER||2874||268|RGS22|protein_coding|CODING|ENST00000517828||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||RGS22|retained_intron|CODING|ENST00000517769|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 101105741 Sibling 36A CA C . . Gene=RGS22;MT=INDEL;MM=CM;CADD=15.4;VMM=40.55;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1264|RGS22|protein_coding|CODING|ENST00000360863|2|C),SPLICE_SITE_REGION+INTRON(LOW||||1083|RGS22|protein_coding|CODING|ENST00000523287|1|C),SPLICE_SITE_REGION+INTRON(LOW||||1252|RGS22|protein_coding|CODING|ENST00000523437|2|C),SPLICE_SITE_REGION+INTRON(LOW||||268|RGS22|protein_coding|CODING|ENST00000517828|1|C|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+INTRON(LOW||||504|RGS22|nonsense_mediated_decay|CODING|ENST00000519725|2|C),SPLICE_SITE_REGION+INTRON(LOW||||135|RGS22|protein_coding|CODING|ENST00000520117|1|C|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+INTRON(LOW||||87|RGS22|protein_coding|CODING|ENST00000519092|1|C|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+INTRON(LOW||||81|RGS22|protein_coding|CODING|ENST00000519408|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),SPLICE_SITE_REGION+INTRON(LOW|||||RGS22|processed_transcript|CODING|ENST00000522064|1|C),SPLICE_SITE_REGION+INTRON(LOW|||||RGS22|processed_transcript|CODING|ENST00000523600|1|C),SPLICE_SITE_REGION+INTRON(LOW|||||RGS22|retained_intron|CODING|ENST00000518719|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57600281 Sibling 37A C T . . Gene=LRP1;MT=SNP;MM=CM;CADD=15.3;VMM=38.08;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I3872|4544|LRP1|protein_coding|CODING|ENST00000243077|76|T),DOWNSTREAM(MODIFIER||3222||182|LRP1|protein_coding|CODING|ENST00000555124||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2967|||LRP1|retained_intron|CODING|ENST00000556247||T),DOWNSTREAM(MODIFIER||713|||LRP1|retained_intron|CODING|ENST00000451724||T),EXON(MODIFIER|||||LRP1|retained_intron|CODING|ENST00000556356|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57606556 Sibling 37A G A . . Gene=LRP1;MT=SNP;MM=CM;CADD=21.8;VMM=38.08;EFF=UTR_3_PRIME(MODIFIER||218||4544|LRP1|protein_coding|CODING|ENST00000243077|89|A),UPSTREAM(MODIFIER||4022||308|NXPH4|protein_coding|CODING|ENST00000349394||A),UPSTREAM(MODIFIER||4056||36|NXPH4|nonsense_mediated_decay|CODING|ENST00000556415||A),EXON(MODIFIER|||||LRP1|retained_intron|CODING|ENST00000556356|17|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 73432565 Sibling 37A G A . . Gene=PDZRN3;MT=SNP;MM=CM;CADD=24.5;VMM=126.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1051L|1066|PDZRN3|protein_coding|CODING|ENST00000263666|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P366L|381|PDZRN3|protein_coding|CODING|ENST00000494559|7|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P708L|723|PDZRN3|protein_coding|CODING|ENST00000462146|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P773L|788|PDZRN3|protein_coding|CODING|ENST00000535920|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P708L|723|PDZRN3|protein_coding|CODING|ENST00000466780|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P768L|783|PDZRN3|protein_coding|CODING|ENST00000479530|8|A),DOWNSTREAM(MODIFIER||769||491|PDZRN3|protein_coding|CODING|ENST00000492909||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1056|||PDZRN3|retained_intron|CODING|ENST00000478209||A),DOWNSTREAM(MODIFIER||2284|||PDZRN3|processed_transcript|CODING|ENST00000466348||A),DOWNSTREAM(MODIFIER||4573|||PDZRN3|retained_intron|CODING|ENST00000484487||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 73657799 Sibling 37A G A . . Gene=PDZRN3;MT=SNP;MM=CM;CADD=35;VMM=126.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R254W|1066|PDZRN3|protein_coding|CODING|ENST00000263666|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R254W|360|PDZRN3|protein_coding|CODING|ENST00000308537|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 113697644 Sibling 37A G C . . Gene=KIAA1407;MT=SNP;MM=CM;CADD=13.73;VMM=52.24;EFF=INTRON(MODIFIER||||936|KIAA1407|protein_coding|CODING|ENST00000295878|15|C),INTRON(MODIFIER||||81|KIAA1407|nonsense_mediated_decay|CODING|ENST00000460813|15|C),INTRON(MODIFIER||||514|KIAA1407|protein_coding|CODING|ENST00000545063|15|C),EXON(MODIFIER|||||KIAA1407|retained_intron|CODING|ENST00000527855|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 113753974 Sibling 37A G A . . Gene=KIAA1407;MT=SNP;MM=CM;CADD=33;VMM=52.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R206C|936|KIAA1407|protein_coding|CODING|ENST00000295878|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R37C|514|KIAA1407|protein_coding|CODING|ENST00000545063|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R193C|608|KIAA1407|protein_coding|CODING|ENST00000491000|5|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R170C|196|KIAA1407|protein_coding|CODING|ENST00000483766|4|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||7701||81|KIAA1407|nonsense_mediated_decay|CODING|ENST00000460813|6|A),UTR_3_PRIME(MODIFIER||7693||38|KIAA1407|nonsense_mediated_decay|CODING|ENST00000463695|5|A),INTRON(MODIFIER||||166|QTRTD1|protein_coding|CODING|ENST00000472599|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||KIAA1407|retained_intron|CODING|ENST00000481358|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 7016579 Sibling 38A C T . . Gene=LAMA1;MT=SNP;MM=CM;CADD=29.9;VMM=51.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G967D|3075|LAMA1|protein_coding|CODING|ENST00000389658|21|T),EXON(MODIFIER|||||LAMA1|retained_intron|CODING|ENST00000579014|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 7017335 Sibling 38A T G . . Gene=LAMA1;MT=SNP;MM=CM;CADD=14.72;VMM=51.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gCg|E917A|3075|LAMA1|protein_coding|CODING|ENST00000389658|20|G),EXON(MODIFIER|||||LAMA1|retained_intron|CODING|ENST00000579014|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 184033715 Sibling 38A A G . . Gene=EIF4G1;MT=SNP;MM=CM;CADD=13.13;VMM=30.99;EFF=UPSTREAM(MODIFIER||265||1560|EIF4G1|protein_coding|CODING|ENST00000411531||G),UPSTREAM(MODIFIER||3272||756|EIF4G1|protein_coding|CODING|ENST00000444861||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3698|||EIF4G1|retained_intron|CODING|ENST00000484862||G),UPSTREAM(MODIFIER||3830||1436|EIF4G1|protein_coding|CODING|ENST00000441154||G),UPSTREAM(MODIFIER||4370||142|EIF4G1|protein_coding|CODING|ENST00000428387||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4386||1404|EIF4G1|protein_coding|CODING|ENST00000434061||G),UPSTREAM(MODIFIER||4519||162|EIF4G1|protein_coding|CODING|ENST00000427607||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4534||284|EIF4G1|protein_coding|CODING|ENST00000457456||G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4558|||EIF4G1|retained_intron|CODING|ENST00000493299||G),UPSTREAM(MODIFIER||4737||1403|EIF4G1|protein_coding|CODING|ENST00000435046||G),INTRON(MODIFIER||||1606|EIF4G1|protein_coding|CODING|ENST00000352767|2|G),INTRON(MODIFIER||||705|EIF2B5|protein_coding|CODING|ENST00000444495|15|G),INTRON(MODIFIER||||1599|EIF4G1|protein_coding|CODING|ENST00000346169|3|G),INTRON(MODIFIER||||1559|EIF4G1|protein_coding|CODING|ENST00000414031|3|G),INTRON(MODIFIER||||1512|EIF4G1|protein_coding|CODING|ENST00000392537|1|G),INTRON(MODIFIER||||126|EIF4G1|protein_coding|CODING|ENST00000444134|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||50|EIF4G1|nonsense_mediated_decay|CODING|ENST00000442406|1|G),INTRON(MODIFIER||||832|EIF4G1|protein_coding|CODING|ENST00000450424|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||868|EIF4G1|protein_coding|CODING|ENST00000421110|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1606|EIF4G1|protein_coding|CODING|ENST00000382330|3|G),INTRON(MODIFIER||||71|EIF4G1|nonsense_mediated_decay|CODING|ENST00000413967|3|G),INTRON(MODIFIER||||902|EIF4G1|protein_coding|CODING|ENST00000426123|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1435|EIF4G1|protein_coding|CODING|ENST00000350481|1|G),INTRON(MODIFIER||||86|EIF4G1|protein_coding|CODING|ENST00000455679|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||142|EIF4G1|protein_coding|CODING|ENST00000440448|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||91|EIF4G1|protein_coding|CODING|ENST00000427141|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||1513|EIF4G1|protein_coding|CODING|ENST00000427845|1|G),INTRON(MODIFIER||||1600|EIF4G1|protein_coding|CODING|ENST00000342981|2|G),INTRON(MODIFIER||||1599|EIF4G1|protein_coding|CODING|ENST00000319274|2|G),INTRON(MODIFIER||||1606|EIF4G1|protein_coding|CODING|ENST00000424196|1|G),INTRON(MODIFIER||||159|EIF4G1|protein_coding|CODING|ENST00000456033|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||EIF4G1|retained_intron|CODING|ENST00000485712|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 184052843 Sibling 38A A T . . Gene=EIF4G1;MT=SNP;MM=CM;CADD=21.4;VMM=30.99;EFF=UTR_3_PRIME(MODIFIER||147||1599|EIF4G1|protein_coding|CODING|ENST00000346169|33|T),UTR_3_PRIME(MODIFIER||147||1559|EIF4G1|protein_coding|CODING|ENST00000414031|33|T),UTR_3_PRIME(MODIFIER||147||1512|EIF4G1|protein_coding|CODING|ENST00000392537|30|T),UTR_3_PRIME(MODIFIER||14198||50|EIF4G1|nonsense_mediated_decay|CODING|ENST00000442406|29|T),UTR_3_PRIME(MODIFIER||147||1435|EIF4G1|protein_coding|CODING|ENST00000350481|29|T),UTR_3_PRIME(MODIFIER||147||1600|EIF4G1|protein_coding|CODING|ENST00000342981|32|T),UTR_3_PRIME(MODIFIER||147||1599|EIF4G1|protein_coding|CODING|ENST00000319274|32|T),UTR_3_PRIME(MODIFIER||147||1606|EIF4G1|protein_coding|CODING|ENST00000424196|32|T),UTR_3_PRIME(MODIFIER||147||1404|EIF4G1|protein_coding|CODING|ENST00000434061|26|T),UTR_3_PRIME(MODIFIER||147||1403|EIF4G1|protein_coding|CODING|ENST00000435046|26|T),UPSTREAM(MODIFIER||2397||366|FAM131A|protein_coding|CODING|ENST00000383847||T),UPSTREAM(MODIFIER||871||281|FAM131A|protein_coding|CODING|ENST00000450976||T),UPSTREAM(MODIFIER||874||251|FAM131A|protein_coding|CODING|ENST00000418281||T),UPSTREAM(MODIFIER||882||281|FAM131A|protein_coding|CODING|ENST00000340957||T),UPSTREAM(MODIFIER||890||122|FAM131A|protein_coding|CODING|ENST00000433578||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2122||230|FAM131A|protein_coding|CODING|ENST00000418768||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2510|||FAM131A|processed_transcript|CODING|ENST00000497070||T),UPSTREAM(MODIFIER||3774||281|FAM131A|protein_coding|CODING|ENST00000453072||T),DOWNSTREAM(MODIFIER||38||1606|EIF4G1|protein_coding|CODING|ENST00000352767||T),DOWNSTREAM(MODIFIER||38||1606|EIF4G1|protein_coding|CODING|ENST00000382330||T),DOWNSTREAM(MODIFIER||147||1513|EIF4G1|protein_coding|CODING|ENST00000427845||T),DOWNSTREAM(MODIFIER||147||1560|EIF4G1|protein_coding|CODING|ENST00000411531||T),DOWNSTREAM(MODIFIER||147||1436|EIF4G1|protein_coding|CODING|ENST00000441154||T),DOWNSTREAM(MODIFIER||2969||179|EIF4G1|nonsense_mediated_decay|CODING|ENST00000422614||T),DOWNSTREAM(MODIFIER||1|||EIF4G1|retained_intron|CODING|ENST00000460829||T),DOWNSTREAM(MODIFIER||3202|||EIF4G1|retained_intron|CODING|ENST00000464548||T),DOWNSTREAM(MODIFIER||2950|||EIF4G1|retained_intron|CODING|ENST00000478291||T),INTRON(MODIFIER||||705|EIF2B5|protein_coding|CODING|ENST00000444495|15|T),EXON(MODIFIER|||||EIF4G1|retained_intron|CODING|ENST00000475721|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 123124942 Sibling 38A A C . . Gene=SMPDL3A;MT=SNP;MM=CM;CADD=22.3;VMM=98.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E234D|453|SMPDL3A|protein_coding|CODING|ENST00000368440|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E103D|322|SMPDL3A|protein_coding|CODING|ENST00000539041|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 123130410 Sibling 38A T G . . Gene=SMPDL3A;MT=SNP;MM=CM;CADD=32;VMM=98.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Gac|Y407D|453|SMPDL3A|protein_coding|CODING|ENST00000368440|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tac/Gac|Y276D|322|SMPDL3A|protein_coding|CODING|ENST00000539041|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 190876247 Sibling 39A G C . . Gene=FRG1;MT=SNP;MM=DN;CADD=22.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V125L|258|FRG1|protein_coding|CODING|ENST00000226798|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtt/Ctt|V62L|115|FRG1|protein_coding|CODING|ENST00000531991|6|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||13193||42|FRG1|nonsense_mediated_decay|CODING|ENST00000533157|6|C),INTRON(MODIFIER||||101|FRG1|protein_coding|CODING|ENST00000524583|4|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||FRG1|processed_transcript|CODING|ENST00000514482|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 26251856 Sibling 39A T TTA . . Gene=CBX3;MT=INDEL;MM=DN;CADD=17.85;VMM=0;EFF=UTR_3_PRIME(MODIFIER||29||183|CBX3|protein_coding|CODING|ENST00000337620|6|TTA),UTR_3_PRIME(MODIFIER||29||183|CBX3|protein_coding|CODING|ENST00000396386|6|TTA),UTR_3_PRIME(MODIFIER||527||101|CBX3|protein_coding|CODING|ENST00000409747|6|TTA),DOWNSTREAM(MODIFIER||3825||61|CBX3|protein_coding|CODING|ENST00000456948||TTA|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||520|||CBX3|processed_transcript|CODING|ENST00000497498||TTA),DOWNSTREAM(MODIFIER||3761|||CBX3|retained_intron|CODING|ENST00000481300||TTA),DOWNSTREAM(MODIFIER||1655||107|CBX3|protein_coding|CODING|ENST00000462165||TTA|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CBX3|retained_intron|CODING|ENST00000481057|3|TTA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 185987360 Sibling 39A G C . . Gene=HMCN1;MT=SNP;MM=CM;CADD=23.1;VMM=38.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K1782N|5635|HMCN1|protein_coding|CODING|ENST00000271588|34|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaC|K1782N|5518|HMCN1|protein_coding|CODING|ENST00000367492|34|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 186057377 Sibling 39A G A . . Gene=HMCN1;MT=SNP;MM=CM;CADD=14.63;VMM=38.41;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T3182|5635|HMCN1|protein_coding|CODING|ENST00000271588|62|A),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T3182|5518|HMCN1|protein_coding|CODING|ENST00000367492|62|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 49383978 Sibling 39A C T . . Gene=FRMPD2;MT=SNP;MM=CM;CADD=29.6;VMM=31.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G967D|1309|FRMPD2|protein_coding|CODING|ENST00000374201|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G942D|1284|FRMPD2|protein_coding|CODING|ENST00000305531|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G935D|1277|FRMPD2|protein_coding|CODING|ENST00000407470|22|T),UTR_5_PRIME(MODIFIER||2911||261|FRMPD2|protein_coding|CODING|ENST00000474573|2|T),UPSTREAM(MODIFIER||792|||FRMPD2|retained_intron|CODING|ENST00000491130||T),DOWNSTREAM(MODIFIER||1358|||FRMPD2|retained_intron|CODING|ENST00000486151||T),EXON(MODIFIER|||||FRMPD2|processed_transcript|CODING|ENST00000463706|3|T),EXON(MODIFIER|||||FRMPD2|retained_intron|CODING|ENST00000477710|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 49459640 Sibling 39A G A . . Gene=FRMPD2;MT=SNP;MM=CM;CADD=10.2;VMM=31.4;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A40|1309|FRMPD2|protein_coding|CODING|ENST00000374201|2|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A38|1284|FRMPD2|protein_coding|CODING|ENST00000305531|1|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A31|1277|FRMPD2|protein_coding|CODING|ENST00000407470|2|A),EXON(MODIFIER|||||FRMPD2|retained_intron|CODING|ENST00000486151|2|A),EXON(MODIFIER|||||FRMPD2|retained_intron|CODING|ENST00000468556|1|A),EXON(MODIFIER|||||FRMPD2|retained_intron|CODING|ENST00000492045|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 88482935 Sibling 39A C A . . Gene=CEP290;MT=SNP;MM=CM;CADD=17.4;VMM=51.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atT|M1303I|2481|CEP290|protein_coding|CODING|ENST00000309041|31|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atT|M361I|1539|CEP290|protein_coding|CODING|ENST00000547691|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atT|M1301I|2479|CEP290|protein_coding|CODING|ENST00000552810|31|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atT|M361I|1539|CEP290|protein_coding|CODING|ENST00000397838|23|A),DOWNSTREAM(MODIFIER||4439||857|CEP290|protein_coding|CODING|ENST00000604024||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 88500654 Sibling 39A G A . . Gene=CEP290;MT=SNP;MM=CM;CADD=24.7;VMM=51.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S874L|2481|CEP290|protein_coding|CODING|ENST00000309041|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S872L|2479|CEP290|protein_coding|CODING|ENST00000552810|25|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S625L|857|CEP290|protein_coding|CODING|ENST00000604024|17|A|WARNING_TRANSCRIPT_NO_START_CODON),START_GAINED(LOW||||1539|CEP290|protein_coding|CODING|ENST00000397838|17|A),UTR_5_PRIME(MODIFIER||3869||1539|CEP290|protein_coding|CODING|ENST00000397838|17|A),UPSTREAM(MODIFIER||2689||1539|CEP290|protein_coding|CODING|ENST00000547691||A),DOWNSTREAM(MODIFIER||4325||613|CEP290|nonsense_mediated_decay|CODING|ENST00000547926||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 18647328 Sibling 39A G A . . Gene=FBXW10;MT=SNP;MM=CM;CADD=15.01;VMM=41.76;EFF=UTR_5_PRIME(MODIFIER||230||1051|FBXW10|protein_coding|CODING|ENST00000395667|1|A),UPSTREAM(MODIFIER||11||1061|FBXW10|protein_coding|CODING|ENST00000308799||A),UPSTREAM(MODIFIER||9||1052|FBXW10|protein_coding|CODING|ENST00000395665||A),UPSTREAM(MODIFIER||57||196|FBXW10|nonsense_mediated_decay|CODING|ENST00000574478||A),UPSTREAM(MODIFIER||60||999|FBXW10|protein_coding|CODING|ENST00000301938||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 18659395 Sibling 39A A G . . Gene=FBXW10;MT=SNP;MM=CM;CADD=24.2;VMM=41.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E416G|1061|FBXW10|protein_coding|CODING|ENST00000308799|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E387G|1051|FBXW10|protein_coding|CODING|ENST00000395667|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E387G|1052|FBXW10|protein_coding|CODING|ENST00000395665|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E387G|999|FBXW10|protein_coding|CODING|ENST00000301938|6|G),UTR_3_PRIME(MODIFIER||11247||196|FBXW10|nonsense_mediated_decay|CODING|ENST00000574478|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 27424356 Sibling 39A C T . . Gene=MYO18A;MT=SNP;MM=CM;CADD=26.1;VMM=40.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1372Q|2054|MYO18A|protein_coding|CODING|ENST00000354329|26|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1372Q|2002|MYO18A|protein_coding|CODING|ENST00000533112|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1372Q|2039|MYO18A|protein_coding|CODING|ENST00000531253|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1372Q|2054|MYO18A|protein_coding|CODING|ENST00000527372|27|T),UTR_3_PRIME(MODIFIER||39705||26|MYO18A|nonsense_mediated_decay|CODING|ENST00000530254|27|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1033|||MYO18A|retained_intron|CODING|ENST00000532143||T),EXON(MODIFIER|||||MYO18A|retained_intron|CODING|ENST00000530557|2|T),EXON(MODIFIER|||||MYO18A|retained_intron|CODING|ENST00000533652|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 27425132 Sibling 39A C T . . Gene=MYO18A;MT=SNP;MM=CM;CADD=13.66;VMM=40.24;EFF=SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1327|2054|MYO18A|protein_coding|CODING|ENST00000354329|24|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1327|2002|MYO18A|protein_coding|CODING|ENST00000533112|25|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1327|2039|MYO18A|protein_coding|CODING|ENST00000531253|25|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K1327|2054|MYO18A|protein_coding|CODING|ENST00000527372|25|T),UTR_3_PRIME(MODIFIER||38929||26|MYO18A|nonsense_mediated_decay|CODING|ENST00000530254|25|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||234|||MYO18A|retained_intron|CODING|ENST00000530557||T),UPSTREAM(MODIFIER||761|||MYO18A|retained_intron|CODING|ENST00000533652||T),DOWNSTREAM(MODIFIER||257|||MYO18A|retained_intron|CODING|ENST00000532143||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44057516 Sibling 39A G A . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=18.86;VMM=54.71;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2185|2211|LOXHD1|protein_coding|CODING|ENST00000536736|40|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A1118|1144|LOXHD1|protein_coding|CODING|ENST00000441893|21|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A1074|1100|LOXHD1|protein_coding|CODING|ENST00000582408|21|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A486|512|LOXHD1|protein_coding|CODING|ENST00000398686|9|A),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A2041|2067|LOXHD1|protein_coding|CODING|ENST00000441551|39|A),INTRON(MODIFIER||||1114|LOXHD1|protein_coding|CODING|ENST00000300591|23|A),INTRON(MODIFIER||||457|LOXHD1|protein_coding|CODING|ENST00000398705|9|A),INTRON(MODIFIER||||1011|LOXHD1|protein_coding|CODING|ENST00000579038|21|A),INTRON(MODIFIER||||1947|LOXHD1|protein_coding|CODING|ENST00000398722|34|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 44229197 Sibling 39A C T . . Gene=LOXHD1;MT=SNP;MM=CM;CADD=23.8;VMM=54.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G56S|2211|LOXHD1|protein_coding|CODING|ENST00000536736|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G56S|2067|LOXHD1|protein_coding|CODING|ENST00000441551|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 13737379 Sibling 39A G A . . Gene=DNAH5;MT=SNP;MM=CM;CADD=34;VMM=104.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R3813W|4624|DNAH5|protein_coding|CODING|ENST00000265104|66|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 13786351 Sibling 39A C G . . Gene=DNAH5;MT=SNP;MM=CM;CADD=22;VMM=104.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E2919D|4624|DNAH5|protein_coding|CODING|ENST00000265104|52|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 101814137 Sibling 40A A T . . Gene=CPN1;MT=SNP;MM=DN;CADD=23.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S360T|458|CPN1|protein_coding|CODING|ENST00000370418|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S157T|203|CPN1|protein_coding|CODING|ENST00000441382|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 27877392 Sibling 40A C T . . Gene=AHDC1;MT=SNP;MM=CM;CADD=24.6;VMM=80.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R412H|1603|AHDC1|protein_coding|CODING|ENST00000247087|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R412H|1603|AHDC1|protein_coding|CODING|ENST00000374011|6|T),DOWNSTREAM(MODIFIER||1161|||AHDC1|processed_transcript|CODING|ENST00000487743||T),DOWNSTREAM(MODIFIER||1846|||AHDC1|processed_transcript|CODING|ENST00000490295||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 27878415 Sibling 40A G A . . Gene=AHDC1;MT=SNP;MM=CM;CADD=24.6;VMM=80.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T71I|1603|AHDC1|protein_coding|CODING|ENST00000247087|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T71I|1603|AHDC1|protein_coding|CODING|ENST00000374011|6|A),DOWNSTREAM(MODIFIER||138|||AHDC1|processed_transcript|CODING|ENST00000487743||A),DOWNSTREAM(MODIFIER||823|||AHDC1|processed_transcript|CODING|ENST00000490295||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 92533555 Sibling 40A A G . . Gene=FAT3;MT=SNP;MM=CM;CADD=22;VMM=65.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q2459R|4589|FAT3|protein_coding|CODING|ENST00000298047|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q2459R|4557|FAT3|protein_coding|CODING|ENST00000409404|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q2309R|4439|FAT3|protein_coding|CODING|ENST00000525166|9|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 92624235 Sibling 40A C T . . Gene=FAT3;MT=SNP;MM=CM;CADD=23.4;VMM=65.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4576F|4589|FAT3|protein_coding|CODING|ENST00000298047|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4544F|4557|FAT3|protein_coding|CODING|ENST00000409404|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L4426F|4439|FAT3|protein_coding|CODING|ENST00000525166|27|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L879F|892|FAT3|protein_coding|CODING|ENST00000533797|8|T),DOWNSTREAM(MODIFIER||207|||FAT3|processed_transcript|CODING|ENST00000489716||T),DOWNSTREAM(MODIFIER||443|||FAT3|retained_intron|CODING|ENST00000469900||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 69983284 Sibling 41A C T . . Gene=CCT2;MT=SNP;MM=DN;CADD=24.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R156C|535|CCT2|protein_coding|CODING|ENST00000299300|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R156C|530|CCT2|protein_coding|CODING|ENST00000544368|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R156C|416|CCT2|nonsense_mediated_decay|CODING|ENST00000550010|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R109C|488|CCT2|protein_coding|CODING|ENST00000543146|7|T),UPSTREAM(MODIFIER||4681|||MIR3913-1|miRNA|NON_CODING|ENST00000577744||T),UPSTREAM(MODIFIER||75|||CCT2|retained_intron|CODING|ENST00000546850||T),UPSTREAM(MODIFIER||3033|||CCT2|retained_intron|CODING|ENST00000553169||T),DOWNSTREAM(MODIFIER||1332|||CCT2|retained_intron|CODING|ENST00000546859||T),DOWNSTREAM(MODIFIER||2357|||CCT2|retained_intron|CODING|ENST00000549933||T),DOWNSTREAM(MODIFIER||1726|||CCT2|retained_intron|CODING|ENST00000550455||T),DOWNSTREAM(MODIFIER||1068|||CCT2|retained_intron|CODING|ENST00000550638||T),DOWNSTREAM(MODIFIER||2579|||CCT2|retained_intron|CODING|ENST00000551899||T),EXON(MODIFIER|||||CCT2|retained_intron|CODING|ENST00000551620|7|T),EXON(MODIFIER|||||CCT2|retained_intron|CODING|ENST00000548787|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201750233 Sibling 41A G A . . Gene=NAV1;MT=SNP;MM=CM;CADD=25.6;VMM=36.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D487N|1877|NAV1|protein_coding|CODING|ENST00000367296|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D500N|1830|NAV1|protein_coding|CODING|ENST00000367302|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D487N|1874|NAV1|protein_coding|CODING|ENST00000295624|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D487N|1869|NAV1|protein_coding|CODING|ENST00000367297|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D487N|1817|NAV1|protein_coding|CODING|ENST00000367300|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D96N|1483|NAV1|protein_coding|CODING|ENST00000367295|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D44N|753|NAV1|protein_coding|CODING|ENST00000430015|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1525|||NAV1|processed_transcript|CODING|ENST00000469130||A),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000413035|2|A),EXON(MODIFIER|||||NAV1|processed_transcript|CODING|ENST00000490213|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201792341 Sibling 41A A G . . Gene=NAV1;MT=SNP;MM=CM;CADD=12.8;VMM=36.28;EFF=UTR_3_PRIME(MODIFIER||3281||1877|NAV1|protein_coding|CODING|ENST00000367296|30|G),UTR_3_PRIME(MODIFIER||3281||1830|NAV1|protein_coding|CODING|ENST00000367302|30|G),UTR_3_PRIME(MODIFIER||3281||1874|NAV1|protein_coding|CODING|ENST00000295624|29|G),UTR_3_PRIME(MODIFIER||3281||1869|NAV1|protein_coding|CODING|ENST00000367297|29|G),UTR_3_PRIME(MODIFIER||3281||1817|NAV1|protein_coding|CODING|ENST00000367300|28|G),UTR_3_PRIME(MODIFIER||3281||1483|NAV1|protein_coding|CODING|ENST00000367295|27|G),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000413035|1|G),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000421449|1|G),INTRON(MODIFIER|||||IPO9-AS1|antisense|NON_CODING|ENST00000421159|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 186241986 Sibling 41A G A . . Gene=SNX25;MT=SNP;MM=CM;CADD=26.2;VMM=123.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E318K|840|SNX25|protein_coding|CODING|ENST00000264694|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E318K|840|SNX25|protein_coding|CODING|ENST00000504273|8|A),UPSTREAM(MODIFIER||13||141|SNX25|nonsense_mediated_decay|CODING|ENST00000504959||A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SNX25|processed_transcript|CODING|ENST00000512853|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 186267739 Sibling 41A C T . . Gene=SNX25;MT=SNP;MM=CM;CADD=32;VMM=123.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P582S|840|SNX25|protein_coding|CODING|ENST00000264694|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P582S|840|SNX25|protein_coding|CODING|ENST00000504273|13|T),UTR_3_PRIME(MODIFIER||7191||141|SNX25|nonsense_mediated_decay|CODING|ENST00000504959|6|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SNX25|processed_transcript|CODING|ENST00000512853|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 36252721 Sibling 42A C T . . Gene=LDLRAD3;MT=SNP;MM=HR;CADD=17.74;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1774||345|LDLRAD3|protein_coding|CODING|ENST00000315571|6|T),DOWNSTREAM(MODIFIER||904||335|LDLRAD3|protein_coding|CODING|ENST00000524419||T),DOWNSTREAM(MODIFIER||904||296|LDLRAD3|protein_coding|CODING|ENST00000528989||T),DOWNSTREAM(MODIFIER||1858|||LDLRAD3|processed_transcript|CODING|ENST00000532490||T),DOWNSTREAM(MODIFIER||1960|||LDLRAD3|processed_transcript|CODING|ENST00000534091||T),DOWNSTREAM(MODIFIER||3742|||LDLRAD3|processed_transcript|CODING|ENST00000529759||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 61449764 Sibling 42A A G . . Gene=USP34;MT=SNP;MM=DN;CADD=22.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L2595S|3546|USP34|protein_coding|CODING|ENST00000398571|65|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tCg|L354S|1222|USP34|protein_coding|CODING|ENST00000411912|13|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2261|||USP34|processed_transcript|CODING|ENST00000476716||G),UPSTREAM(MODIFIER||784|||USP34|retained_intron|CODING|ENST00000490527||G),UPSTREAM(MODIFIER||1028|||USP34|retained_intron|CODING|ENST00000483672||G),DOWNSTREAM(MODIFIER||3|||USP34|retained_intron|CODING|ENST00000468703||G),DOWNSTREAM(MODIFIER||4159||810|USP34|protein_coding|CODING|ENST00000453734||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||USP34|processed_transcript|CODING|ENST00000472706|2|G),EXON(MODIFIER|||||USP34|retained_intron|CODING|ENST00000463046|17|G),EXON(MODIFIER|||||USP34|processed_transcript|CODING|ENST00000472689|1|G),EXON(MODIFIER|||||USP34|retained_intron|CODING|ENST00000482250|1|G),EXON(MODIFIER|||||USP34|retained_intron|CODING|ENST00000487547|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 98836573 Sibling 42A G A . . Gene=KPNA7(dist=31484),MYH16(dist=34351);MT=SNP;MM=HR;CADD=16.49;VMM=0;EFF=EXON(MODIFIER|||||MYH16|unitary_pseudogene|NON_CODING|ENST00000439784|1|A),EXON(MODIFIER|||||MYH16|processed_transcript|NON_CODING|ENST00000453194|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 56001026 Sibling 42A G A . . Gene=SSC5D;MT=SNP;MM=CM;CADD=23.8;VMM=69.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A120T|1573|SSC5D|protein_coding|CODING|ENST00000389623|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A120T|951|SSC5D|protein_coding|CODING|ENST00000587166|3|A),UPSTREAM(MODIFIER||4232||117|SSC5D|protein_coding|CODING|ENST00000589020||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2091||206|NAT14|protein_coding|CODING|ENST00000205194||A),DOWNSTREAM(MODIFIER||3052||52|NAT14|protein_coding|CODING|ENST00000591590||A),DOWNSTREAM(MODIFIER||2091|||NAT14|processed_transcript|CODING|ENST00000592719||A),DOWNSTREAM(MODIFIER||2093||44|NAT14|protein_coding|CODING|ENST00000587400||A),DOWNSTREAM(MODIFIER||2091||172|NAT14|protein_coding|CODING|ENST00000588985||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||87||89|SSC5D|protein_coding|CODING|ENST00000594321||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||SSC5D|retained_intron|CODING|ENST00000588254|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 56030250 Sibling 42A G A . . Gene=SSC5D;MT=SNP;MM=CM;CADD=22.8;VMM=69.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G1536E|1573|SSC5D|protein_coding|CODING|ENST00000389623|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 141324017 Sibling 42A A G . . Gene=PCDH12;MT=SNP;MM=CM;CADD=17.8;VMM=36.17;EFF=UTR_3_PRIME(MODIFIER||929||1184|PCDH12|protein_coding|CODING|ENST00000231484|4|G),DOWNSTREAM(MODIFIER||4332||515|KIAA0141|protein_coding|CODING|ENST00000194118||G),DOWNSTREAM(MODIFIER||2405||515|KIAA0141|protein_coding|CODING|ENST00000432126||G),DOWNSTREAM(MODIFIER||4306||216|KIAA0141|protein_coding|CODING|ENST00000507481||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 141335043 Sibling 42A C T . . Gene=PCDH12;MT=SNP;MM=CM;CADD=17.78;VMM=36.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G792R|1184|PCDH12|protein_coding|CODING|ENST00000231484|1|T),UPSTREAM(MODIFIER||2850||277|RNF14|protein_coding|CODING|ENST00000511961||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2859||131|RNF14|protein_coding|CODING|ENST00000506822||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2103|||AC005740.6|antisense|NON_CODING|ENST00000607378||T),DOWNSTREAM(MODIFIER||2303||22|PCDH12|protein_coding|CODING|ENST00000510041||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2559|||PCDH12|processed_transcript|CODING|ENST00000512221||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 19842006 Sibling 42A C A . . Gene=ID4;MT=SNP;MM=CM;CADD=18.24;VMM=38.02;EFF=UPSTREAM(MODIFIER||2695|||RP1-167F1.2|antisense|NON_CODING|ENST00000432171||A),DOWNSTREAM(MODIFIER||1091||161|ID4|protein_coding|CODING|ENST00000378700||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 19842333 Sibling 42A A C . . Gene=ID4;MT=SNP;MM=CM;CADD=18.11;VMM=38.02;EFF=UPSTREAM(MODIFIER||3022|||RP1-167F1.2|antisense|NON_CODING|ENST00000432171||C),DOWNSTREAM(MODIFIER||1418||161|ID4|protein_coding|CODING|ENST00000378700||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21805095 Sibling 42A G A . . Gene=DNAH11;MT=SNP;MM=CM;CADD=35;VMM=120.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R3004Q|4523|DNAH11|protein_coding|CODING|ENST00000328843|56|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2997Q|4516|DNAH11|protein_coding|CODING|ENST00000409508|55|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21824060 Sibling 42A A C . . Gene=DNAH11;MT=SNP;MM=CM;CADD=23.7;VMM=120.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T3174P|4523|DNAH11|protein_coding|CODING|ENST00000328843|59|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T3167P|4516|DNAH11|protein_coding|CODING|ENST00000409508|58|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 69063889 Sibling 42A C T . . Gene=AUTS2;MT=SNP;MM=CM;CADD=18.28;VMM=37.18;EFF=UPSTREAM(MODIFIER||1455|||RP5-942I16.1|lincRNA|NON_CODING|ENST00000436600||T),UPSTREAM(MODIFIER||430||1259|AUTS2|protein_coding|CODING|ENST00000342771||T),UPSTREAM(MODIFIER||16||1235|AUTS2|protein_coding|CODING|ENST00000406775||T),UPSTREAM(MODIFIER||708||266|AUTS2|protein_coding|CODING|ENST00000403018||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 70229794 Sibling 42A A C . . Gene=AUTS2;MT=SNP;MM=CM;CADD=17.73;VMM=37.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cCc|H424P|1259|AUTS2|protein_coding|CODING|ENST00000342771|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cCc|H424P|1235|AUTS2|protein_coding|CODING|ENST00000406775|8|C),UPSTREAM(MODIFIER||105||179|AUTS2|protein_coding|CODING|ENST00000443672||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||123|||AUTS2|retained_intron|CODING|ENST00000481994||C),UPSTREAM(MODIFIER||3216|||AUTS2|processed_transcript|CODING|ENST00000483297||C),DOWNSTREAM(MODIFIER||14||197|AUTS2|protein_coding|CODING|ENST00000416482||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 139789748 Sibling 42A C T . . Gene=JHDM1D;MT=SNP;MM=CM;CADD=15.99;VMM=30.68;EFF=UTR_3_PRIME(MODIFIER||1146||941|KDM7A|protein_coding|CODING|ENST00000397560|20|T),UTR_3_PRIME(MODIFIER||5708||403|KDM7A|nonsense_mediated_decay|CODING|ENST00000472616|13|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4749|||Y_RNA|misc_RNA|NON_CODING|ENST00000515919||T),DOWNSTREAM(MODIFIER||955|||KDM7A|retained_intron|CODING|ENST00000478996||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 139833688 Sibling 42A T C . . Gene=JHDM1D;MT=SNP;MM=CM;CADD=17.14;VMM=30.68;EFF=INTRON(MODIFIER||||941|KDM7A|protein_coding|CODING|ENST00000397560|2|C),INTRON(MODIFIER||||809|KDM7A|protein_coding|CODING|ENST00000006967|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 159185566 Sibling 43A C A . . Gene=SYTL3;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|tCg/tAg|S588*|610|SYTL3|protein_coding|CODING|ENST00000297239|17|A),STOP_GAINED(HIGH|NONSENSE|tCg/tAg|S520*|542|SYTL3|protein_coding|CODING|ENST00000360448|17|A),STOP_GAINED(HIGH|NONSENSE|tCg/tAg|S314*|336|SYTL3|protein_coding|CODING|ENST00000367081|10|A),DOWNSTREAM(MODIFIER||127|||MIR3918|miRNA|NON_CODING|ENST00000581555||A),DOWNSTREAM(MODIFIER||1207||586|EZR|protein_coding|CODING|ENST00000337147||A),DOWNSTREAM(MODIFIER||1214||586|EZR|protein_coding|CODING|ENST00000367075||A),DOWNSTREAM(MODIFIER||2362||554|EZR|protein_coding|CODING|ENST00000392177||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205580033 Sibling 43A A G . . Gene=ELK4;MT=SNP;MM=CM;CADD=15.29;VMM=62.65;EFF=UTR_3_PRIME(MODIFIER||5641||431|ELK4|protein_coding|CODING|ENST00000357992|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205589762 Sibling 43A G A . . Gene=ELK4;MT=SNP;MM=CM;CADD=34;VMM=62.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R138C|431|ELK4|protein_coding|CODING|ENST00000357992|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R138C|405|ELK4|protein_coding|CODING|ENST00000289703|3|A),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||405|ELK4|protein_coding|CODING||3|A),UPSTREAM(MODIFIER||4849|||RP11-6B6.3|processed_pseudogene|NON_CODING|ENST00000411645||A),EXON(MODIFIER|||||ELK4|processed_transcript|CODING|ENST00000468523|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50281519 Sibling 43A C T . . Gene=NEMF;MT=SNP;MM=CM;CADD=35;VMM=30.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R545Q|1076|NEMF|protein_coding|CODING|ENST00000298310|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R503Q|1034|NEMF|protein_coding|CODING|ENST00000545773|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R545Q|1055|NEMF|protein_coding|CODING|ENST00000546046|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R503Q|997|NEMF|protein_coding|CODING|ENST00000555970|16|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000556925|10|T),EXON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000555411|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50319339 Sibling 43A C T . . Gene=NEMF;MT=SNP;MM=CM;CADD=8.856;VMM=30.55;EFF=DOWNSTREAM(MODIFIER||997|||RN7SL3|misc_RNA|NON_CODING|ENST00000578231||T),INTRON(MODIFIER||||1076|NEMF|protein_coding|CODING|ENST00000298310|1|T),INTRON(MODIFIER||||1034|NEMF|protein_coding|CODING|ENST00000545773|1|T),INTRON(MODIFIER||||1055|NEMF|protein_coding|CODING|ENST00000546046|1|T),INTRON(MODIFIER||||997|NEMF|protein_coding|CODING|ENST00000555970|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000557380|1|T),INTRON(MODIFIER||||177|NEMF|protein_coding|CODING|ENST00000554626|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||121|NEMF|protein_coding|CODING|ENST00000556672|1|T),INTRON(MODIFIER|||||NEMF|processed_transcript|CODING|ENST00000554162|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 74340793 Sibling 43A A T . . Gene=PTGR2;MT=SNP;MM=CM;CADD=28.6;VMM=65.6;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||351|PTGR2|protein_coding|CODING||4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D75V|351|PTGR2|protein_coding|CODING|ENST00000267568|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D75V|287|RP5-1021I20.4|nonsense_mediated_decay|CODING|ENST00000556551|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D75V|351|PTGR2|protein_coding|CODING|ENST00000555228|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D75V|351|PTGR2|protein_coding|CODING|ENST00000555661|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D75V|129|PTGR2|protein_coding|CODING|ENST00000555976|4|T|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||217|PTGR2|protein_coding|CODING|ENST00000553813|2|T),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||351|PTGR2|protein_coding|CODING||4|T),UTR_5_PRIME(MODIFIER||2962||217|PTGR2|protein_coding|CODING|ENST00000553813|2|T),EXON(MODIFIER|||||PTGR2|retained_intron|CODING|ENST00000556219|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 74352411 Sibling 43A G A . . Gene=PTGR2;MT=SNP;MM=CM;CADD=18.32;VMM=65.6;EFF=UTR_3_PRIME(MODIFIER||1531||351|PTGR2|protein_coding|CODING|ENST00000555661|10|A),UPSTREAM(MODIFIER||1163||516|ZNF410|protein_coding|CODING|ENST00000442160||A),UPSTREAM(MODIFIER||909||405|ZNF410|protein_coding|CODING|ENST00000540593||A),UPSTREAM(MODIFIER||1026||85|ZNF410|protein_coding|CODING|ENST00000555730||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1097||431|ZNF410|protein_coding|CODING|ENST00000324593||A),UPSTREAM(MODIFIER||1100||96|ZNF410|nonsense_mediated_decay|CODING|ENST00000556396||A),UPSTREAM(MODIFIER||1151||126|ZNF410|protein_coding|CODING|ENST00000557495||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1151||124|ZNF410|protein_coding|CODING|ENST00000556659||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1151||128|ZNF410|protein_coding|CODING|ENST00000557363||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1151|||ZNF410|processed_transcript|CODING|ENST00000555602||A),UPSTREAM(MODIFIER||1151|||ZNF410|processed_transcript|CODING|ENST00000412490||A),UPSTREAM(MODIFIER||1153|||ZNF410|processed_transcript|CODING|ENST00000541357||A),UPSTREAM(MODIFIER||1163||272|ZNF410|nonsense_mediated_decay|CODING|ENST00000398139||A),UPSTREAM(MODIFIER||1163||478|ZNF410|protein_coding|CODING|ENST00000555044||A),UPSTREAM(MODIFIER||1350||73|ZNF410|protein_coding|CODING|ENST00000556160||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2542||96|ZNF410|nonsense_mediated_decay|CODING|ENST00000554582||A),DOWNSTREAM(MODIFIER||249||351|PTGR2|protein_coding|CODING|ENST00000267568||A),DOWNSTREAM(MODIFIER||252||351|PTGR2|protein_coding|CODING|ENST00000555228||A),DOWNSTREAM(MODIFIER||1129|||PTGR2|retained_intron|CODING|ENST00000556219||A),DOWNSTREAM(MODIFIER||1129||217|PTGR2|protein_coding|CODING|ENST00000553813||A),INTRON(MODIFIER||||287|RP5-1021I20.4|nonsense_mediated_decay|CODING|ENST00000556551|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 12896253 Sibling 43A C T . . Gene=ELAC2;MT=SNP;MM=CM;CADD=33;VMM=109.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R788Q|826|ELAC2|protein_coding|CODING|ENST00000338034|24|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R769Q|807|ELAC2|protein_coding|CODING|ENST00000395962|24|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R748Q|786|ELAC2|protein_coding|CODING|ENST00000426905|23|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R587Q|625|ELAC2|protein_coding|CODING|ENST00000584650|19|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2326|||RP11-597M12.1|antisense|NON_CODING|ENST00000582915||T),DOWNSTREAM(MODIFIER||1294||818|ARHGAP44|protein_coding|CODING|ENST00000379672||T),DOWNSTREAM(MODIFIER||1293||812|ARHGAP44|protein_coding|CODING|ENST00000340825||T),DOWNSTREAM(MODIFIER||1294||178|ARHGAP44|nonsense_mediated_decay|CODING|ENST00000580768||T),DOWNSTREAM(MODIFIER||2352||774|ARHGAP44|protein_coding|CODING|ENST00000262444||T),DOWNSTREAM(MODIFIER||2352||591|ARHGAP44|nonsense_mediated_decay|CODING|ENST00000544416||T),DOWNSTREAM(MODIFIER||4020|||ARHGAP44|retained_intron|CODING|ENST00000584974||T),DOWNSTREAM(MODIFIER||1494|||ELAC2|retained_intron|CODING|ENST00000491478||T),DOWNSTREAM(MODIFIER||2767|||ELAC2|retained_intron|CODING|ENST00000492559||T),EXON(MODIFIER|||||ELAC2|retained_intron|CODING|ENST00000480891|16|T),EXON(MODIFIER|||||ELAC2|retained_intron|CODING|ENST00000484122|22|T),EXON(MODIFIER|||||ELAC2|retained_intron|CODING|ENST00000465825|9|T),EXON(MODIFIER|||||ELAC2|retained_intron|CODING|ENST00000487229|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 12916571 Sibling 43A G A . . Gene=ELAC2;MT=SNP;MM=CM;CADD=23.3;VMM=109.06;EFF=STOP_GAINED(HIGH|NONSENSE|Cag/Tag|Q152*|158|ELAC2|protein_coding|CODING|ENST00000578071|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P171L|826|ELAC2|protein_coding|CODING|ENST00000338034|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P152L|807|ELAC2|protein_coding|CODING|ENST00000395962|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P171L|786|ELAC2|protein_coding|CODING|ENST00000426905|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P77L|241|ELAC2|protein_coding|CODING|ENST00000609101|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P77L|147|ELAC2|protein_coding|CODING|ENST00000580504|6|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P77L|131|ELAC2|protein_coding|CODING|ENST00000581499|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P77L|123|ELAC2|protein_coding|CODING|ENST00000609757|6|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P77L|121|ELAC2|protein_coding|CODING|ENST00000583371|6|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||15||625|ELAC2|protein_coding|CODING|ENST00000584650||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1584||284|ELAC2|protein_coding|CODING|ENST00000446899||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ELAC2|retained_intron|CODING|ENST00000484122|5|A),EXON(MODIFIER|||||ELAC2|processed_transcript|CODING|ENST00000609345|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 1043464 Sibling 43A A G . . Gene=ABCA7;MT=SNP;MM=CM;CADD=13.71;VMM=38.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M308V|2146|ABCA7|protein_coding|CODING|ENST00000263094|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M308V|2146|ABCA7|protein_coding|CODING|ENST00000433129|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M170V|2008|ABCA7|protein_coding|CODING|ENST00000435683|3|G),UPSTREAM(MODIFIER||4401|||AC011558.5|antisense|NON_CODING|ENST00000585757||G),UPSTREAM(MODIFIER||2067|||ABCA7|processed_transcript|CODING|ENST00000533574||G),DOWNSTREAM(MODIFIER||4396||309|CNN2|protein_coding|CODING|ENST00000263097||G),DOWNSTREAM(MODIFIER||4592|||CNN2|processed_transcript|CODING|ENST00000606983||G),DOWNSTREAM(MODIFIER||4401||270|CNN2|protein_coding|CODING|ENST00000348419||G),DOWNSTREAM(MODIFIER||4401|||CNN2|retained_intron|CODING|ENST00000564572||G),DOWNSTREAM(MODIFIER||1783|||ABCA7|retained_intron|CODING|ENST00000530703||G),DOWNSTREAM(MODIFIER||1074||163|ABCA7|protein_coding|CODING|ENST00000524850||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||721|||ABCA7|retained_intron|CODING|ENST00000526885||G),DOWNSTREAM(MODIFIER||1000|||ABCA7|retained_intron|CODING|ENST00000525238||G),DOWNSTREAM(MODIFIER||1289||135|ABCA7|protein_coding|CODING|ENST00000531467||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1361|||ABCA7|retained_intron|CODING|ENST00000527496||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 1056425 Sibling 43A C T . . Gene=ABCA7;MT=SNP;MM=CM;CADD=24.7;VMM=38.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1505C|2146|ABCA7|protein_coding|CODING|ENST00000263094|33|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1505C|2146|ABCA7|protein_coding|CODING|ENST00000433129|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1367C|2008|ABCA7|protein_coding|CODING|ENST00000435683|27|T),UPSTREAM(MODIFIER||508||590|ABCA7|protein_coding|CODING|ENST00000525073||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||614|||ABCA7|retained_intron|CODING|ENST00000529442||T),UPSTREAM(MODIFIER||614|||ABCA7|retained_intron|CODING|ENST00000532194||T),DOWNSTREAM(MODIFIER||487||60|ABCA7|nonsense_mediated_decay|CODING|ENST00000530092||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 158364636 Sibling 43A G T . . Gene=GFM1;MT=SNP;MM=CM;CADD=26.5;VMM=130.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V158F|770|GFM1|protein_coding|CODING|ENST00000264263|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V158F|751|GFM1|protein_coding|CODING|ENST00000486715|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V158F|591|GFM1|protein_coding|CODING|ENST00000478576|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V158F|453|GFM1|nonsense_mediated_decay|CODING|ENST00000478254|4|T),UPSTREAM(MODIFIER||41|||GFM1|retained_intron|CODING|ENST00000478251||T),DOWNSTREAM(MODIFIER||66||59|GFM1|protein_coding|CODING|ENST00000464732||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||156|LXN|protein_coding|CODING|ENST00000482640|3|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 158369968 Sibling 43A C T . . Gene=GFM1;MT=SNP;MM=CM;CADD=33;VMM=130.83;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A277V|770|GFM1|protein_coding|CODING|ENST00000264263|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A258V|751|GFM1|protein_coding|CODING|ENST00000486715|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A258V|591|GFM1|protein_coding|CODING|ENST00000478576|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gTc|A258V|453|GFM1|nonsense_mediated_decay|CODING|ENST00000478254|6|T),UPSTREAM(MODIFIER||19|||GFM1|retained_intron|CODING|ENST00000312756||T),DOWNSTREAM(MODIFIER||1159|||GFM1|retained_intron|CODING|ENST00000478251||T),INTRON(MODIFIER||||156|LXN|protein_coding|CODING|ENST00000482640|3|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140769289 Sibling 43A G C . . Gene=PCDHGB4;MT=SNP;MM=CM;CADD=23.4;VMM=91.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gCg|G613A|923|PCDHGB4|protein_coding|CODING|ENST00000519479|1|C),UPSTREAM(MODIFIER||3092||932|PCDHGA8|protein_coding|CODING|ENST00000398604||C),INTRON(MODIFIER||||931|PCDHGA1|protein_coding|CODING|ENST00000517417|1|C),INTRON(MODIFIER||||932|PCDHGA2|protein_coding|CODING|ENST00000394576|1|C),INTRON(MODIFIER||||932|PCDHGA3|protein_coding|CODING|ENST00000253812|1|C),INTRON(MODIFIER||||927|PCDHGB1|protein_coding|CODING|ENST00000523390|1|C),INTRON(MODIFIER||||931|PCDHGA4|protein_coding|CODING|ENST00000571252|1|C),INTRON(MODIFIER||||931|PCDHGB2|protein_coding|CODING|ENST00000522605|1|C),INTRON(MODIFIER||||931|PCDHGA5|protein_coding|CODING|ENST00000518069|1|C),INTRON(MODIFIER||||929|PCDHGB3|protein_coding|CODING|ENST00000576222|1|C),INTRON(MODIFIER||||932|PCDHGA6|protein_coding|CODING|ENST00000517434|1|C),INTRON(MODIFIER||||932|PCDHGA7|protein_coding|CODING|ENST00000518325|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140769682 Sibling 43A G A . . Gene=PCDHGB4;MT=SNP;MM=CM;CADD=28.6;VMM=91.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G744E|923|PCDHGB4|protein_coding|CODING|ENST00000519479|1|A),UPSTREAM(MODIFIER||2699||932|PCDHGA8|protein_coding|CODING|ENST00000398604||A),INTRON(MODIFIER||||931|PCDHGA1|protein_coding|CODING|ENST00000517417|1|A),INTRON(MODIFIER||||932|PCDHGA2|protein_coding|CODING|ENST00000394576|1|A),INTRON(MODIFIER||||932|PCDHGA3|protein_coding|CODING|ENST00000253812|1|A),INTRON(MODIFIER||||927|PCDHGB1|protein_coding|CODING|ENST00000523390|1|A),INTRON(MODIFIER||||931|PCDHGA4|protein_coding|CODING|ENST00000571252|1|A),INTRON(MODIFIER||||931|PCDHGB2|protein_coding|CODING|ENST00000522605|1|A),INTRON(MODIFIER||||931|PCDHGA5|protein_coding|CODING|ENST00000518069|1|A),INTRON(MODIFIER||||929|PCDHGB3|protein_coding|CODING|ENST00000576222|1|A),INTRON(MODIFIER||||932|PCDHGA6|protein_coding|CODING|ENST00000517434|1|A),INTRON(MODIFIER||||932|PCDHGA7|protein_coding|CODING|ENST00000518325|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 94700101 Sibling 44A G A . . Gene=PPP4R4;MT=SNP;MM=DN;CADD=15.66;VMM=0;EFF=SPLICE_SITE_REGION+INTRON(LOW||||873|PPP4R4|protein_coding|CODING|ENST00000304338|6|A),DOWNSTREAM(MODIFIER||3145||61|PPP4R4|protein_coding|CODING|ENST00000556884||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3050|||PPP4R4|processed_transcript|CODING|ENST00000555690||A),DOWNSTREAM(MODIFIER||3058||56|PPP4R4|protein_coding|CODING|ENST00000553661||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||46||112|PPP4R4|protein_coding|CODING|ENST00000556470||A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18827163 Sibling 44A C T . . Gene=CACNB2;MT=SNP;MM=CM;CADD=29;VMM=41.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L453F|660|CACNB2|protein_coding|CODING|ENST00000324631|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L429F|636|CACNB2|protein_coding|CODING|ENST00000352115|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L203F|410|CACNB2|protein_coding|CODING|ENST00000377328|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L425F|632|CACNB2|protein_coding|CODING|ENST00000282343|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L401F|608|CACNB2|protein_coding|CODING|ENST00000377331|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L398F|605|CACNB2|protein_coding|CODING|ENST00000396576|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L360F|567|CACNB2|protein_coding|CODING|ENST00000377319|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L399F|606|CACNB2|protein_coding|CODING|ENST00000377329|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|L405F|612|CACNB2|protein_coding|CODING|ENST00000377315|12|T),UPSTREAM(MODIFIER||4898|||RP11-383B4.4|antisense|NON_CODING|ENST00000433526||T),DOWNSTREAM(MODIFIER||3352|||RP11-499P20.2|antisense|NON_CODING|ENST00000436485||T),INTRON(MODIFIER|||||RP11-499P20.2|antisense|NON_CODING|ENST00000425669|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 18829485 Sibling 44A T TGTAA . . Gene=CACNB2;MT=INDEL;MM=CM;CADD=12.89;VMM=41.77;EFF=UTR_3_PRIME(MODIFIER||833||660|CACNB2|protein_coding|CODING|ENST00000324631|14|TGTAA),UTR_3_PRIME(MODIFIER||833||632|CACNB2|protein_coding|CODING|ENST00000282343|14|TGTAA),UTR_3_PRIME(MODIFIER||833||605|CACNB2|protein_coding|CODING|ENST00000396576|13|TGTAA),UTR_3_PRIME(MODIFIER||833||567|CACNB2|protein_coding|CODING|ENST00000377319|13|TGTAA),UTR_3_PRIME(MODIFIER||833||606|CACNB2|protein_coding|CODING|ENST00000377329|13|TGTAA),UTR_3_PRIME(MODIFIER||833||612|CACNB2|protein_coding|CODING|ENST00000377315|13|TGTAA),DOWNSTREAM(MODIFIER||833||636|CACNB2|protein_coding|CODING|ENST00000352115||TGTAA),DOWNSTREAM(MODIFIER||833||410|CACNB2|protein_coding|CODING|ENST00000377328||TGTAA),DOWNSTREAM(MODIFIER||833||608|CACNB2|protein_coding|CODING|ENST00000377331||TGTAA),DOWNSTREAM(MODIFIER||1029|||RP11-499P20.2|antisense|NON_CODING|ENST00000436485||TGTAA),INTRON(MODIFIER|||||RP11-499P20.2|antisense|NON_CODING|ENST00000425669|3|TGTAA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 156772737 Sibling 44A G A . . Gene=CYFIP2;MT=SNP;MM=CM;CADD=22.4;VMM=51.63;EFF=UPSTREAM(MODIFIER||8||224|FNDC9|protein_coding|CODING|ENST00000312349||A),UPSTREAM(MODIFIER||165||179|FNDC9|protein_coding|CODING|ENST00000520782||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4635|||CYFIP2|retained_intron|CODING|ENST00000520424||A),INTRON(MODIFIER||||1278|CYFIP2|protein_coding|CODING|ENST00000318218|25|A),INTRON(MODIFIER||||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000523969|24|A),INTRON(MODIFIER||||216|CYFIP2|protein_coding|CODING|ENST00000442283|24|A),INTRON(MODIFIER||||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000520759|23|A),INTRON(MODIFIER||||1057|CYFIP2|protein_coding|CODING|ENST00000522463|18|A),INTRON(MODIFIER||||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000523119|20|A),INTRON(MODIFIER||||1227|CYFIP2|protein_coding|CODING|ENST00000521420|22|A),INTRON(MODIFIER||||1253|CYFIP2|protein_coding|CODING|ENST00000347377|23|A),INTRON(MODIFIER||||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000519153|23|A),INTRON(MODIFIER||||1253|CYFIP2|protein_coding|CODING|ENST00000377576|23|A),INTRON(MODIFIER||||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000517753|22|A),INTRON(MODIFIER||||1178|CYFIP2|protein_coding|CODING|ENST00000541131|20|A),INTRON(MODIFIER||||952|CYFIP2|protein_coding|CODING|ENST00000435847|15|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 156822455 Sibling 44A G A . . Gene=CYFIP2;MT=SNP;MM=CM;CADD=19.08;VMM=51.63;EFF=UTR_3_PRIME(MODIFIER||2447||1278|CYFIP2|protein_coding|CODING|ENST00000318218|33|A),UTR_3_PRIME(MODIFIER||2447||1227|CYFIP2|protein_coding|CODING|ENST00000521420|30|A),UTR_3_PRIME(MODIFIER||2447||1253|CYFIP2|protein_coding|CODING|ENST00000347377|31|A),UTR_3_PRIME(MODIFIER||2447||1253|CYFIP2|protein_coding|CODING|ENST00000377576|31|A),UTR_3_PRIME(MODIFIER||2447||1178|CYFIP2|protein_coding|CODING|ENST00000541131|28|A),UTR_3_PRIME(MODIFIER||2447||952|CYFIP2|protein_coding|CODING|ENST00000435847|23|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2214||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000523969||A),DOWNSTREAM(MODIFIER||2240||216|CYFIP2|protein_coding|CODING|ENST00000442283||A),DOWNSTREAM(MODIFIER||2223||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000520759||A),DOWNSTREAM(MODIFIER||2240||1057|CYFIP2|protein_coding|CODING|ENST00000522463||A),DOWNSTREAM(MODIFIER||2224||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000523119||A),DOWNSTREAM(MODIFIER||2218||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000519153||A),DOWNSTREAM(MODIFIER||2223||95|CYFIP2|nonsense_mediated_decay|CODING|ENST00000517753||A),DOWNSTREAM(MODIFIER||2214|||CYFIP2|retained_intron|CODING|ENST00000523383||A),DOWNSTREAM(MODIFIER||2214|||CYFIP2|retained_intron|CODING|ENST00000519663||A),DOWNSTREAM(MODIFIER||4809|||CYFIP2|retained_intron|CODING|ENST00000522775||A),DOWNSTREAM(MODIFIER||87||272|ADAM19|nonsense_mediated_decay|CODING|ENST00000517951||A),DOWNSTREAM(MODIFIER||119||638|ADAM19|protein_coding|CODING|ENST00000430702||A),INTRON(MODIFIER|||||CTB-109A12.1|sense_overlapping|NON_CODING|ENST00000519499|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 169483706 Sibling 44A C T . . Gene=DOCK2;MT=SNP;MM=CM;CADD=14.81;VMM=38.63;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1830|DOCK2|protein_coding|CODING||43|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y1438|1830|DOCK2|protein_coding|CODING|ENST00000256935|43|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y499|891|DOCK2|protein_coding|CODING|ENST00000540750|29|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y930|1322|DOCK2|protein_coding|CODING|ENST00000520908|29|T),UTR_3_PRIME(MODIFIER||58705||1031|DOCK2|nonsense_mediated_decay|CODING|ENST00000524185|44|T),EXON(MODIFIER|||||DOCK2|processed_transcript|CODING|ENST00000523351|19|T),EXON(MODIFIER|||||DOCK2|retained_intron|CODING|ENST00000520450|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 169504819 Sibling 44A C G . . Gene=DOCK2;MT=SNP;MM=CM;CADD=22.9;VMM=38.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Gcc|P1658A|1830|DOCK2|protein_coding|CODING|ENST00000256935|48|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Gcc|P719A|891|DOCK2|protein_coding|CODING|ENST00000540750|34|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Gcc|P1150A|1322|DOCK2|protein_coding|CODING|ENST00000520908|34|G),UTR_3_PRIME(MODIFIER||79818||1031|DOCK2|nonsense_mediated_decay|CODING|ENST00000524185|49|G),EXON(MODIFIER|||||DOCK2|processed_transcript|CODING|ENST00000523351|24|G),EXON(MODIFIER|||||DOCK2|retained_intron|CODING|ENST00000520450|5|G),EXON(MODIFIER|||||DOCK2|retained_intron|CODING|ENST00000519868|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 68478462 Sibling 45A T C . . Gene=MTL5;MT=SNP;MM=CM;CADD=29.1;VMM=37.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E405G|508|MTL5|protein_coding|CODING|ENST00000255087|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|E97G|203|MTL5|protein_coding|CODING|ENST00000543240|3|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||388|||MTL5|processed_transcript|CODING|ENST00000544398||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 68504178 Sibling 45A CAT C . . Gene=MTL5;MT=INDEL;MM=CM;CADD=11.88;VMM=37.66;EFF=UTR_3_PRIME(MODIFIER||2072||251|MTL5|protein_coding|CODING|ENST00000443940|5|C),DOWNSTREAM(MODIFIER||617|||MTL5|retained_intron|CODING|ENST00000438124||C),DOWNSTREAM(MODIFIER||1751||306|MTL5|protein_coding|CODING|ENST00000544963||C),INTRON(MODIFIER||||508|MTL5|protein_coding|CODING|ENST00000255087|6|C),INTRON(MODIFIER|||||MTL5|processed_transcript|CODING|ENST00000540869|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 36099050 Sibling 45A C T . . Gene=MAPK13;MT=SNP;MM=CM;CADD=33;VMM=163.49;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S41L|365|MAPK13|protein_coding|CODING|ENST00000211287|2|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S41L|355|MAPK13|protein_coding|CODING|ENST00000373761|2|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|tCg/tTg|S41L|257|MAPK13|protein_coding|CODING|ENST00000373766|2|T),SPLICE_SITE_REGION+EXON(LOW|||||MAPK13|processed_transcript|CODING|ENST00000476951|3|T),SPLICE_SITE_REGION(LOW||||152|MAPK13|protein_coding|CODING|ENST00000373759|2|T),SPLICE_SITE_REGION+EXON(LOW|||||MAPK13|processed_transcript|CODING|ENST00000490334|2|T),START_GAINED(LOW||||152|MAPK13|protein_coding|CODING|ENST00000373759|2|T),UTR_5_PRIME(MODIFIER||113||152|MAPK13|protein_coding|CODING|ENST00000373759|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 36106177 Sibling 45A G A . . Gene=MAPK13;MT=SNP;MM=CM;CADD=31;VMM=163.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G240R|365|MAPK13|protein_coding|CODING|ENST00000211287|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G230R|355|MAPK13|protein_coding|CODING|ENST00000373761|8|A),DOWNSTREAM(MODIFIER||2098|||Z95152.1|miRNA|NON_CODING|ENST00000408816||A),DOWNSTREAM(MODIFIER||2568|||MAPK13|processed_transcript|CODING|ENST00000476951||A),DOWNSTREAM(MODIFIER||1885|||MAPK13|processed_transcript|CODING|ENST00000490334||A),INTRON(MODIFIER||||257|MAPK13|protein_coding|CODING|ENST00000373766|7|A),INTRON(MODIFIER||||152|MAPK13|protein_coding|CODING|ENST00000373759|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136682253 Sibling 45A ACTC A . . Gene=MAP7;MT=INDEL;MM=CM;CADD=14.56;VMM=54.72;EFF=CODON_DELETION(MODERATE||gag/|E552|771|MAP7|protein_coding|CODING|ENST00000454590|13|A),CODON_DELETION(MODERATE||gag/|E530|749|MAP7|protein_coding|CODING|ENST00000354570|12|A),CODON_DELETION(MODERATE||gag/|E515|734|MAP7|protein_coding|CODING|ENST00000544465|12|A),CODON_DELETION(MODERATE||gag/|E515|734|MAP7|protein_coding|CODING|ENST00000438100|11|A),CODON_DELETION(MODERATE||gag/|E384|603|MAP7|protein_coding|CODING|ENST00000432797|12|A),UPSTREAM(MODIFIER||3303|||RP3-406A7.3|processed_transcript|NON_CODING|ENST00000571188||A),UPSTREAM(MODIFIER||3013|||RP3-406A7.3|transcribed_processed_pseudogene|NON_CODING|ENST00000407767||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 136683651 Sibling 45A C T . . Gene=MAP7;MT=SNP;MM=CM;CADD=32;VMM=54.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R510Q|771|MAP7|protein_coding|CODING|ENST00000454590|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R488Q|749|MAP7|protein_coding|CODING|ENST00000354570|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R473Q|734|MAP7|protein_coding|CODING|ENST00000544465|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R473Q|734|MAP7|protein_coding|CODING|ENST00000438100|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R342Q|603|MAP7|protein_coding|CODING|ENST00000432797|11|T),UPSTREAM(MODIFIER||1906|||RP3-406A7.3|processed_transcript|NON_CODING|ENST00000571188||T),UPSTREAM(MODIFIER||1616|||RP3-406A7.3|transcribed_processed_pseudogene|NON_CODING|ENST00000407767||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 102190521 Sibling 46A C T . . Gene=GNPTAB;MT=SNP;MM=HR;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R46Q|1256|GNPTAB|protein_coding|CODING|ENST00000299314|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R46Q|490|GNPTAB|protein_coding|CODING|ENST00000549940|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R46Q|71|GNPTAB|protein_coding|CODING|ENST00000392919|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R46Q|68|GNPTAB|protein_coding|CODING|ENST00000549165|2|T),UPSTREAM(MODIFIER||241|||RNU6-172P|snRNA|NON_CODING|ENST00000411000||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 32391979 Sibling 46A C T . . Gene=DTNA;MT=SNP;MM=DN;CADD=37;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|744|DTNA|protein_coding|CODING|ENST00000269190|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|686|DTNA|protein_coding|CODING|ENST00000283365|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|320|DTNA|protein_coding|CODING|ENST00000596745|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|374|DTNA|protein_coding|CODING|ENST00000315456|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|724|DTNA|protein_coding|CODING|ENST00000598334|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|371|DTNA|protein_coding|CODING|ENST00000554864|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|690|DTNA|protein_coding|CODING|ENST00000399121|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|683|DTNA|protein_coding|CODING|ENST00000595022|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|513|DTNA|protein_coding|CODING|ENST00000598774|6|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|686|DTNA|protein_coding|CODING|ENST00000598142|6|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|567|DTNA|protein_coding|CODING|ENST00000348997|6|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|510|DTNA|protein_coding|CODING|ENST00000597599|6|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|570|DTNA|protein_coding|CODING|ENST00000269191|5|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|743|DTNA|protein_coding|CODING|ENST00000444659|5|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q169*|743|DTNA|protein_coding|CODING|ENST00000399113|5|T),UTR_5_PRIME(MODIFIER||8854||391|DTNA|protein_coding|CODING|ENST00000399097|7|T),UPSTREAM(MODIFIER||3592|||DTNA|processed_transcript|CODING|ENST00000592114||T),EXON(MODIFIER|||||DTNA|processed_transcript|CODING|ENST00000585446|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 8429272 Sibling 46A G A . . Gene=ANGPTL4;MT=SNP;MM=HR;CADD=26.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|406|ANGPTL4|protein_coding|CODING|ENST00000301455|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|95|ANGPTL4|protein_coding|CODING|ENST00000601886|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|103|ANGPTL4|protein_coding|CODING|ENST00000599192|3|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|84|ANGPTL4|protein_coding|CODING|ENST00000601770|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|128|ANGPTL4|nonsense_mediated_decay|CODING|ENST00000595079|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|368|ANGPTL4|protein_coding|CODING|ENST00000393962|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A23T|406|ANGPTL4|nonsense_mediated_decay|CODING|ENST00000593998|1|A),UTR_5_PRIME(MODIFIER||1886||239|ANGPTL4|protein_coding|CODING|ENST00000541807|1|A),UPSTREAM(MODIFIER||10||128|ANGPTL4|protein_coding|CODING|ENST00000594875||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||ANGPTL4|retained_intron|CODING|ENST00000597137|1|A),EXON(MODIFIER|||||ANGPTL4|retained_intron|CODING|ENST00000598255|1|A),EXON(MODIFIER|||||ANGPTL4|retained_intron|CODING|ENST00000594348|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 120163371 Sibling 46A A G . . Gene=PRR16(dist=140407),FTMT(dist=1024279);MT=SNP;MM=HR;CADD=21.2;VMM=0;EFF=INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 43473030 Sibling 46A C T . . Gene=TJAP1;MT=SNP;MM=CM;CADD=32;VMM=52.98;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R371C|557|TJAP1|protein_coding|CODING|ENST00000372445|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R361C|547|TJAP1|protein_coding|CODING|ENST00000372444|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R361C|547|TJAP1|protein_coding|CODING|ENST00000436109|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R361C|547|TJAP1|protein_coding|CODING|ENST00000259751|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R371C|557|TJAP1|protein_coding|CODING|ENST00000372449|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R361C|547|TJAP1|protein_coding|CODING|ENST00000372452|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R371C|557|TJAP1|protein_coding|CODING|ENST00000438588|10|T),UTR_3_PRIME(MODIFIER||1289||238|TJAP1|protein_coding|CODING|ENST00000454762|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4410||123|POLR1C|protein_coding|CODING|ENST00000428025||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1677||316|LRRC73|protein_coding|CODING|ENST00000372441||T),DOWNSTREAM(MODIFIER||2999||99|TJAP1|protein_coding|CODING|ENST00000372454||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1586||192|TJAP1|protein_coding|CODING|ENST00000442878||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1586|||TJAP1|processed_transcript|CODING|ENST00000478173||T),DOWNSTREAM(MODIFIER||1596|||TJAP1|processed_transcript|CODING|ENST00000459851||T),DOWNSTREAM(MODIFIER||1625|||TJAP1|processed_transcript|CODING|ENST00000490050||T),EXON(MODIFIER|||||TJAP1|processed_transcript|CODING|ENST00000483640|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 43474134 Sibling 46A C T . . Gene=TJAP1;MT=SNP;MM=CM;CADD=14.22;VMM=52.98;EFF=UTR_3_PRIME(MODIFIER||541||557|TJAP1|protein_coding|CODING|ENST00000372445|11|T),UTR_3_PRIME(MODIFIER||541||547|TJAP1|protein_coding|CODING|ENST00000372444|11|T),UTR_3_PRIME(MODIFIER||541||547|TJAP1|protein_coding|CODING|ENST00000436109|9|T),UTR_3_PRIME(MODIFIER||541||547|TJAP1|protein_coding|CODING|ENST00000259751|10|T),UTR_3_PRIME(MODIFIER||541||557|TJAP1|protein_coding|CODING|ENST00000372449|11|T),UTR_3_PRIME(MODIFIER||541||547|TJAP1|protein_coding|CODING|ENST00000372452|10|T),UTR_3_PRIME(MODIFIER||541||557|TJAP1|protein_coding|CODING|ENST00000438588|10|T),UTR_3_PRIME(MODIFIER||2393||238|TJAP1|protein_coding|CODING|ENST00000454762|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3306||123|POLR1C|protein_coding|CODING|ENST00000428025||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||573||316|LRRC73|protein_coding|CODING|ENST00000372441||T),DOWNSTREAM(MODIFIER||4103||99|TJAP1|protein_coding|CODING|ENST00000372454||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2690||192|TJAP1|protein_coding|CODING|ENST00000442878||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2690|||TJAP1|processed_transcript|CODING|ENST00000478173||T),DOWNSTREAM(MODIFIER||2700|||TJAP1|processed_transcript|CODING|ENST00000459851||T),DOWNSTREAM(MODIFIER||2729|||TJAP1|processed_transcript|CODING|ENST00000490050||T),EXON(MODIFIER|||||TJAP1|processed_transcript|CODING|ENST00000483640|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144942387 Sibling 46A G A . . Gene=EPPK1;MT=SNP;MM=CM;CADD=33;VMM=106.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1679C|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144942796 Sibling 46A C A . . Gene=EPPK1;MT=SNP;MM=CM;CADD=22.9;VMM=106.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1542N|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 99332162 Sibling 47A G C . . Gene=ANKRD2;MT=SNP;MM=CM;CADD=11.71;VMM=33.84;EFF=UPSTREAM(MODIFIER||36||360|ANKRD2|protein_coding|CODING|ENST00000307518||C),UPSTREAM(MODIFIER||36||327|ANKRD2|protein_coding|CODING|ENST00000298808||C),UPSTREAM(MODIFIER||94||333|ANKRD2|protein_coding|CODING|ENST00000370655||C),UPSTREAM(MODIFIER||374||300|ANKRD2|protein_coding|CODING|ENST00000455090||C),DOWNSTREAM(MODIFIER||1196||227|UBTD1|protein_coding|CODING|ENST00000370664||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 99338262 Sibling 47A C T . . Gene=ANKRD2;MT=SNP;MM=CM;CADD=26.7;VMM=33.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P146L|360|ANKRD2|protein_coding|CODING|ENST00000307518|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P146L|327|ANKRD2|protein_coding|CODING|ENST00000298808|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P119L|333|ANKRD2|protein_coding|CODING|ENST00000370655|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P119L|300|ANKRD2|protein_coding|CODING|ENST00000455090|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52836469 Sibling 47A C T . . Gene=ITIH3;MT=SNP;MM=CM;CADD=9.916;VMM=32.63;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I501|890|ITIH3|protein_coding|CODING|ENST00000449956|12|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I501|698|ITIH3|protein_coding|CODING|ENST00000416872|12|T),UPSTREAM(MODIFIER||49|||ITIH3|retained_intron|CODING|ENST00000475931||T),UPSTREAM(MODIFIER||1550|||ITIH3|retained_intron|CODING|ENST00000495622||T),UPSTREAM(MODIFIER||2353|||ITIH3|retained_intron|CODING|ENST00000493136||T),DOWNSTREAM(MODIFIER||1390|||ITIH3|processed_transcript|CODING|ENST00000465243||T),DOWNSTREAM(MODIFIER||2577|||ITIH3|processed_transcript|CODING|ENST00000463893||T),DOWNSTREAM(MODIFIER||37|||ITIH3|retained_intron|CODING|ENST00000464804||T),EXON(MODIFIER|||||ITIH3|retained_intron|CODING|ENST00000465314|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 52836533 Sibling 47A G A . . Gene=ITIH3;MT=SNP;MM=CM;CADD=32;VMM=32.63;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Agg|G523R|890|ITIH3|protein_coding|CODING|ENST00000449956|12|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Ggg/Agg|G523R|698|ITIH3|protein_coding|CODING|ENST00000416872|12|A),SPLICE_SITE_REGION+EXON(LOW|||||ITIH3|retained_intron|CODING|ENST00000465314|1|A),SPLICE_SITE_REGION+EXON(LOW|||||ITIH3|retained_intron|CODING|ENST00000475931|1|A),UPSTREAM(MODIFIER||1486|||ITIH3|retained_intron|CODING|ENST00000495622||A),UPSTREAM(MODIFIER||2289|||ITIH3|retained_intron|CODING|ENST00000493136||A),DOWNSTREAM(MODIFIER||1454|||ITIH3|processed_transcript|CODING|ENST00000465243||A),DOWNSTREAM(MODIFIER||2641|||ITIH3|processed_transcript|CODING|ENST00000463893||A),DOWNSTREAM(MODIFIER||101|||ITIH3|retained_intron|CODING|ENST00000464804||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 69026778 Sibling 47A A C . . Gene=EOGT;MT=SNP;MM=CM;CADD=22.9;VMM=40.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D525E|527|EOGT|protein_coding|CODING|ENST00000383701|18|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D441E|443|EOGT|protein_coding|CODING|ENST00000295571|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D249E|251|EOGT|protein_coding|CODING|ENST00000540955|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D424E|426|EOGT|protein_coding|CODING|ENST00000540764|14|C),UTR_3_PRIME(MODIFIER||11390||206|EOGT|nonsense_mediated_decay|CODING|ENST00000403140|16|C),EXON(MODIFIER|||||EOGT|retained_intron|CODING|ENST00000496647|9|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 69038093 Sibling 47A T C . . Gene=EOGT;MT=SNP;MM=CM;CADD=15.35;VMM=40.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T303A|527|EOGT|protein_coding|CODING|ENST00000383701|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T27A|251|EOGT|protein_coding|CODING|ENST00000540955|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Gct|T202A|426|EOGT|protein_coding|CODING|ENST00000540764|7|C),UTR_3_PRIME(MODIFIER||75||206|EOGT|nonsense_mediated_decay|CODING|ENST00000403140|9|C),UPSTREAM(MODIFIER||1083|||EOGT|retained_intron|CODING|ENST00000480846||C),INTRON(MODIFIER||||443|EOGT|protein_coding|CODING|ENST00000295571|10|C),EXON(MODIFIER|||||EOGT|retained_intron|CODING|ENST00000496647|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 183995069 Sibling 47A C G . . Gene=ECE2;MT=SNP;MM=CM;CADD=24.5;VMM=40.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A216G|883|ECE2|protein_coding|CODING|ENST00000402825|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A69G|736|ECE2|protein_coding|CODING|ENST00000359140|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A98G|765|ECE2|protein_coding|CODING|ENST00000404464|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A144G|811|ECE2|protein_coding|CODING|ENST00000357474|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gGc|A90G|716|ECE2|protein_coding|CODING|ENST00000430587|3|G|WARNING_TRANSCRIPT_NO_START_CODON),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||883|ECE2|protein_coding|CODING||4|G),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||736|ECE2|protein_coding|CODING||3|G),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||765|ECE2|protein_coding|CODING||4|G),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||811|ECE2|protein_coding|CODING||4|G),UTR_3_PRIME(MODIFIER||67||67|ECE2|nonsense_mediated_decay|CODING|ENST00000422932|3|G),UPSTREAM(MODIFIER||934|||ECE2|retained_intron|CODING|ENST00000462596||G),INTRON(MODIFIER||||705|EIF2B5|protein_coding|CODING|ENST00000444495|15|G),EXON(MODIFIER|||||ECE2|retained_intron|CODING|ENST00000488401|3|G),EXON(MODIFIER|||||ECE2|retained_intron|CODING|ENST00000474750|3|G),EXON(MODIFIER|||||ECE2|retained_intron|CODING|ENST00000490579|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 184010734 Sibling 47A A C . . Gene=ECE2;MT=SNP;MM=CM;CADD=14.4;VMM=40.17;EFF=UTR_3_PRIME(MODIFIER||708||883|ECE2|protein_coding|CODING|ENST00000402825|19|C),UTR_3_PRIME(MODIFIER||708||736|ECE2|protein_coding|CODING|ENST00000359140|18|C),UTR_3_PRIME(MODIFIER||708||765|ECE2|protein_coding|CODING|ENST00000404464|19|C),DOWNSTREAM(MODIFIER||881|||ECE2|retained_intron|CODING|ENST00000488401||C),DOWNSTREAM(MODIFIER||596||811|ECE2|protein_coding|CODING|ENST00000357474||C),DOWNSTREAM(MODIFIER||1016||716|ECE2|protein_coding|CODING|ENST00000430587||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1729|||ECE2|retained_intron|CODING|ENST00000490579||C),INTRON(MODIFIER||||705|EIF2B5|protein_coding|CODING|ENST00000444495|15|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100830757 Sibling 47A C T . . Gene=VPS13B;MT=SNP;MM=CM;CADD=51;VMM=32.95;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R2839*|4022|VPS13B|protein_coding|CODING|ENST00000358544|46|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R2814*|3997|VPS13B|protein_coding|CODING|ENST00000357162|46|T),UTR_3_PRIME(MODIFIER||310700||1427|VPS13B|protein_coding|CODING|ENST00000395996|47|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100888046 Sibling 47A CTGCCACCATAAAGGGCTGCATTT C . . Gene=VPS13B;MT=INDEL;MM=CM;CADD=7.339;VMM=32.95;EFF=UTR_3_PRIME(MODIFIER||153||4022|VPS13B|protein_coding|CODING|ENST00000358544|62|C),UTR_3_PRIME(MODIFIER||367990||1427|VPS13B|protein_coding|CODING|ENST00000395996|63|C),UTR_3_PRIME(MODIFIER||153||3997|VPS13B|protein_coding|CODING|ENST00000357162|62|C),DOWNSTREAM(MODIFIER||2329||75|COX6C|protein_coding|CODING|ENST00000297564||C),DOWNSTREAM(MODIFIER||2047||75|COX6C|protein_coding|CODING|ENST00000520468||C),DOWNSTREAM(MODIFIER||2330|||COX6C|retained_intron|CODING|ENST00000606245||C),DOWNSTREAM(MODIFIER||2330||75|COX6C|protein_coding|CODING|ENST00000520271||C),DOWNSTREAM(MODIFIER||2330||75|COX6C|protein_coding|CODING|ENST00000517682||C),DOWNSTREAM(MODIFIER||2331||75|COX6C|protein_coding|CODING|ENST00000524245||C),DOWNSTREAM(MODIFIER||2332||75|COX6C|protein_coding|CODING|ENST00000522940||C),INTRON(MODIFIER||||75|COX6C|nonsense_mediated_decay|CODING|ENST00000522934|4|C),INTRON(MODIFIER||||75|COX6C|nonsense_mediated_decay|CODING|ENST00000520517|4|C),EXON(MODIFIER|||||VPS13B|retained_intron|CODING|ENST00000493587|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 66104485 Sibling 48A C T . . Gene=BRMS1;MT=SNP;MM=CM;CADD=9.821;VMM=34.16;EFF=UPSTREAM(MODIFIER||485||783|RIN1|protein_coding|CODING|ENST00000311320||T),UPSTREAM(MODIFIER||1006|||RIN1|retained_intron|CODING|ENST00000526246||T),UPSTREAM(MODIFIER||608||605|RIN1|protein_coding|CODING|ENST00000424433||T),UPSTREAM(MODIFIER||1323||72|RIN1|nonsense_mediated_decay|CODING|ENST00000534824||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||174||617|RIN1|protein_coding|CODING|ENST00000530056||T),UPSTREAM(MODIFIER||3461|||RIN1|processed_transcript|CODING|ENST00000524804||T),UPSTREAM(MODIFIER||578||80|RIN1|nonsense_mediated_decay|CODING|ENST00000530745||T),UPSTREAM(MODIFIER||1314|||RIN1|retained_intron|CODING|ENST00000528006||T),DOWNSTREAM(MODIFIER||319||290|BRMS1|protein_coding|CODING|ENST00000425825||T),DOWNSTREAM(MODIFIER||325||266|BRMS1|protein_coding|CODING|ENST00000524699||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||325||246|BRMS1|protein_coding|CODING|ENST00000359957||T),DOWNSTREAM(MODIFIER||355|||BRMS1|retained_intron|CODING|ENST00000530238||T),DOWNSTREAM(MODIFIER||764||126|BRMS1|nonsense_mediated_decay|CODING|ENST00000527375||T),DOWNSTREAM(MODIFIER||1229||243|BRMS1|protein_coding|CODING|ENST00000530756||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3760|||BRMS1|retained_intron|CODING|ENST00000534617||T),DOWNSTREAM(MODIFIER||3760|||BRMS1|retained_intron|CODING|ENST00000525127||T),DOWNSTREAM(MODIFIER||4935|||BRMS1|retained_intron|CODING|ENST00000529544||T),INTRON(MODIFIER|||||RP11-867G23.12|antisense|NON_CODING|ENST00000526655|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 66108296 Sibling 48A C T . . Gene=BRMS1;MT=SNP;MM=CM;CADD=34;VMM=34.16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E162K|290|BRMS1|protein_coding|CODING|ENST00000425825|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E124K|266|BRMS1|protein_coding|CODING|ENST00000524699|5|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E162K|246|BRMS1|protein_coding|CODING|ENST00000359957|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E162K|243|BRMS1|protein_coding|CODING|ENST00000530756|6|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||192||126|BRMS1|nonsense_mediated_decay|CODING|ENST00000527375|6|T),UPSTREAM(MODIFIER||4296||783|RIN1|protein_coding|CODING|ENST00000311320||T),UPSTREAM(MODIFIER||4817|||RIN1|retained_intron|CODING|ENST00000526246||T),UPSTREAM(MODIFIER||4419||605|RIN1|protein_coding|CODING|ENST00000424433||T),UPSTREAM(MODIFIER||3985||617|RIN1|protein_coding|CODING|ENST00000530056||T),UPSTREAM(MODIFIER||4389||80|RIN1|nonsense_mediated_decay|CODING|ENST00000530745||T),DOWNSTREAM(MODIFIER||950|||RP11-867G23.12|antisense|NON_CODING|ENST00000526655||T),DOWNSTREAM(MODIFIER||4547||415|B3GNT1|protein_coding|CODING|ENST00000311181||T),DOWNSTREAM(MODIFIER||1124|||BRMS1|retained_intron|CODING|ENST00000529544||T),EXON(MODIFIER|||||BRMS1|retained_intron|CODING|ENST00000530238|6|T),EXON(MODIFIER|||||BRMS1|retained_intron|CODING|ENST00000534617|4|T),EXON(MODIFIER|||||BRMS1|retained_intron|CODING|ENST00000525127|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 72828693 Sibling 48A C T . . Gene=ZFHX3;MT=SNP;MM=CM;CADD=19.88;VMM=35.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2630N|3703|ZFHX3|protein_coding|CODING|ENST00000268489|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1716N|2789|ZFHX3|protein_coding|CODING|ENST00000397992|8|T),DOWNSTREAM(MODIFIER||3171|||RP5-991G20.4|antisense|NON_CODING|ENST00000569195||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 72992910 Sibling 48A G C . . Gene=ZFHX3;MT=SNP;MM=CM;CADD=15.64;VMM=35.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Gtc|L379V|3703|ZFHX3|protein_coding|CODING|ENST00000268489|2|C),INTRON(MODIFIER||||2789|ZFHX3|protein_coding|CODING|ENST00000397992|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 10365904 Sibling 48A C A . . Gene=ATP2B2;MT=SNP;MM=CM;CADD=21;VMM=35.23;EFF=UTR_3_PRIME(MODIFIER||4594||1243|ATP2B2|protein_coding|CODING|ENST00000352432|22|A),UTR_3_PRIME(MODIFIER||4594||1229|ATP2B2|protein_coding|CODING|ENST00000343816|22|A),UTR_3_PRIME(MODIFIER||4594||1243|ATP2B2|protein_coding|CODING|ENST00000360273|23|A),UTR_3_PRIME(MODIFIER||4594||1198|ATP2B2|protein_coding|CODING|ENST00000383800|20|A),UTR_3_PRIME(MODIFIER||7810||1154|ATP2B2|nonsense_mediated_decay|CODING|ENST00000460129|22|A),UTR_3_PRIME(MODIFIER||4594||1198|ATP2B2|protein_coding|CODING|ENST00000397077|22|A),UPSTREAM(MODIFIER||3136||368|SEC13|protein_coding|CODING|ENST00000383801||A),UPSTREAM(MODIFIER||3179||308|SEC13|protein_coding|CODING|ENST00000397109||A),UPSTREAM(MODIFIER||3138||325|SEC13|protein_coding|CODING|ENST00000337354||A),UPSTREAM(MODIFIER||3042||322|SEC13|protein_coding|CODING|ENST00000350697||A),UPSTREAM(MODIFIER||3159||284|SEC13|protein_coding|CODING|ENST00000397117||A),UPSTREAM(MODIFIER||3127|||SEC13|retained_intron|CODING|ENST00000397105||A),UPSTREAM(MODIFIER||3160||85|SEC13|protein_coding|CODING|ENST00000431352||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3108|||SEC13|retained_intron|CODING|ENST00000397102||A),UPSTREAM(MODIFIER||3108|||SEC13|retained_intron|CODING|ENST00000397101||A),UPSTREAM(MODIFIER||3134|||SEC13|retained_intron|CODING|ENST00000397099||A),UPSTREAM(MODIFIER||3164||27|SEC13|protein_coding|CODING|ENST00000428626||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3162||26|SEC13|protein_coding|CODING|ENST00000445064||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3127||23|SEC13|protein_coding|CODING|ENST00000432213||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3878||1099|ATP2B2|protein_coding|CODING|ENST00000452124||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4226|||ATP2B2|processed_transcript|CODING|ENST00000467702||A),DOWNSTREAM(MODIFIER||4591|||ATP2B2|processed_transcript|CODING|ENST00000468426||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 10379944 Sibling 48A G A . . Gene=ATP2B2;MT=SNP;MM=CM;CADD=14.85;VMM=35.23;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1112|1243|ATP2B2|protein_coding|CODING|ENST00000352432|21|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1098|1229|ATP2B2|protein_coding|CODING|ENST00000343816|21|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1112|1243|ATP2B2|protein_coding|CODING|ENST00000360273|22|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1067|1198|ATP2B2|protein_coding|CODING|ENST00000383800|19|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1067|1154|ATP2B2|nonsense_mediated_decay|CODING|ENST00000460129|19|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D1067|1198|ATP2B2|protein_coding|CODING|ENST00000397077|21|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D968|1099|ATP2B2|protein_coding|CODING|ENST00000452124|18|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1960|||ATP2B2|processed_transcript|CODING|ENST00000467702||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ibling 48A G A . . Gene=ARHGEF10;MT=SNP;MM=CM;CADD=29.7;VMM=44.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R313H|1369|ARHGEF10|protein_coding|CODING|ENST00000398564|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R288H|1344|ARHGEF10|protein_coding|CODING|ENST00000349830|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R313H|1368|ARHGEF10|protein_coding|CODING|ENST00000518288|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R313H|1340|ARHGEF10|protein_coding|CODING|ENST00000262112|9|A),UPSTREAM(MODIFIER||2589||988|ARHGEF10|protein_coding|CODING|ENST00000522435||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1306|ARHGEF10|protein_coding|CODING|ENST00000520359|8|A),INTRON(MODIFIER||||610|ARHGEF10|protein_coding|CODING|ENST00000398560|9|A),INTRON(MODIFIER|||||ARHGEF10|retained_intron|CODING|ENST00000520972|5|A),INTRON(MODIFIER|||||ARHGEF10|retained_intron|CODING|ENST00000523711|1|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ibling 48A C T . . Gene=ARHGEF10;MT=SNP;MM=CM;CADD=13.29;VMM=44.61;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1118|1369|ARHGEF10|protein_coding|CODING|ENST00000398564|27|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1093|1344|ARHGEF10|protein_coding|CODING|ENST00000349830|27|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1055|1306|ARHGEF10|protein_coding|CODING|ENST00000520359|26|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1117|1368|ARHGEF10|protein_coding|CODING|ENST00000518288|28|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S1089|1340|ARHGEF10|protein_coding|CODING|ENST00000262112|26|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S737|988|ARHGEF10|protein_coding|CODING|ENST00000522435|17|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ARHGEF10|processed_transcript|CODING|ENST00000523596|2|T),EXON(MODIFIER|||||ARHGEF10|retained_intron|CODING|ENST00000523980|2|T),EXON(MODIFIER|||||ARHGEF10|processed_transcript|CODING|ENST00000521927|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 129139269 Sibling 48B G A . . Gene=BCORL1;MT=SNP;MM=XL;CADD=25.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R21H|1785|BCORL1|protein_coding|CODING|ENST00000303743|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R21H|45|BCORL1|nonsense_mediated_decay|CODING|ENST00000488135|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R21H|1711|BCORL1|protein_coding|CODING|ENST00000218147|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R21H|1581|BCORL1|protein_coding|CODING|ENST00000359304|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R21H|1711|BCORL1|protein_coding|CODING|ENST00000540052|1|A),EXON(MODIFIER|||||BCORL1|processed_transcript|CODING|ENST00000607874|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 6644308 Sibling 48B C T . . Gene=DCHS1;MT=SNP;MM=CM;CADD=15.4;VMM=39.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A2867T|3298|DCHS1|protein_coding|CODING|ENST00000299441|21|T),UPSTREAM(MODIFIER||3616||563|TPP1|protein_coding|CODING|ENST00000299427||T),UPSTREAM(MODIFIER||3723||320|TPP1|protein_coding|CODING|ENST00000533371||T),UPSTREAM(MODIFIER||3648||176|TPP1|protein_coding|CODING|ENST00000436873||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||3655||39|TPP1|nonsense_mediated_decay|CODING|ENST00000528571||T),UPSTREAM(MODIFIER||3655|||TPP1|retained_intron|CODING|ENST00000428886||T),UPSTREAM(MODIFIER||3668|||TPP1|processed_transcript|CODING|ENST00000534644||T),UPSTREAM(MODIFIER||3681|||TPP1|processed_transcript|CODING|ENST00000530040||T),UPSTREAM(MODIFIER||3656|||TPP1|retained_intron|CODING|ENST00000528917||T),UPSTREAM(MODIFIER||3629|||TPP1|retained_intron|CODING|ENST00000531754||T),UPSTREAM(MODIFIER||3696|||TPP1|processed_transcript|CODING|ENST00000524903||T),UPSTREAM(MODIFIER||3655||30|TPP1|protein_coding|CODING|ENST00000528657||T),DOWNSTREAM(MODIFIER||3313|||RP11-732A19.9|antisense|NON_CODING|ENST00000545572||T),DOWNSTREAM(MODIFIER||755|||RP11-732A19.5|antisense|NON_CODING|ENST00000526456||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 6662255 Sibling 48B G A . . Gene=DCHS1;MT=SNP;MM=CM;CADD=22.3;VMM=39.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P197L|3298|DCHS1|protein_coding|CODING|ENST00000299441|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 68171059 Sibling 48B C T . . Gene=LRP5;MT=SNP;MM=CM;CADD=33;VMM=35.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R565C|1615|LRP5|protein_coding|CODING|ENST00000294304|8|T),UTR_3_PRIME(MODIFIER||105||471|LRP5|nonsense_mediated_decay|CODING|ENST00000529993|7|T),UPSTREAM(MODIFIER||386|||LRP5|retained_intron|CODING|ENST00000528890||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 68193582 Sibling 48B G A . . Gene=LRP5;MT=SNP;MM=CM;CADD=10.25;VMM=35.14;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgG/cgA|R1188|1615|LRP5|protein_coding|CODING|ENST00000294304|16|A),UTR_3_PRIME(MODIFIER||22628||471|LRP5|nonsense_mediated_decay|CODING|ENST00000529993|16|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 47693370 Sibling 48B C T . . Gene=MCM3AP;MT=SNP;MM=CM;CADD=34;VMM=109.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D710N|1980|MCM3AP|protein_coding|CODING|ENST00000291688|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D710N|1980|MCM3AP|protein_coding|CODING|ENST00000397708|8|T),UPSTREAM(MODIFIER||833|||MCM3AP|processed_transcript|CODING|ENST00000479557||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 47699982 Sibling 48B T C . . Gene=MCM3AP;MT=SNP;MM=CM;CADD=22.8;VMM=109.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E531G|1980|MCM3AP|protein_coding|CODING|ENST00000291688|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E531G|1980|MCM3AP|protein_coding|CODING|ENST00000397708|5|C),DOWNSTREAM(MODIFIER||4937||93|MCM3AP|protein_coding|CODING|ENST00000426537||C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 46757065 Sibling 48B C T . . Gene=CELSR1;MT=SNP;MM=CM;CADD=10.1;VMM=30.9;EFF=UTR_3_PRIME(MODIFIER||2010||3014|CELSR1|protein_coding|CODING|ENST00000262738|35|T),DOWNSTREAM(MODIFIER||3828||421|TRMU|protein_coding|CODING|ENST00000290846||T),DOWNSTREAM(MODIFIER||3833||99|TRMU|nonsense_mediated_decay|CODING|ENST00000441818||T),DOWNSTREAM(MODIFIER||3831||99|TRMU|nonsense_mediated_decay|CODING|ENST00000381021||T),DOWNSTREAM(MODIFIER||3831||99|TRMU|nonsense_mediated_decay|CODING|ENST00000453630||T),DOWNSTREAM(MODIFIER||3831||99|TRMU|nonsense_mediated_decay|CODING|ENST00000456595||T),DOWNSTREAM(MODIFIER||3831||166|TRMU|nonsense_mediated_decay|CODING|ENST00000457572||T),DOWNSTREAM(MODIFIER||3984||376|TRMU|protein_coding|CODING|ENST00000381019||T),DOWNSTREAM(MODIFIER||3831|||TRMU|retained_intron|CODING|ENST00000491612||T),DOWNSTREAM(MODIFIER||3829|||TRMU|retained_intron|CODING|ENST00000485559||T),DOWNSTREAM(MODIFIER||3830|||TRMU|retained_intron|CODING|ENST00000470831||T),DOWNSTREAM(MODIFIER||6|||CELSR1|retained_intron|CODING|ENST00000473624||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 46790142 Sibling 48B G A . . Gene=CELSR1;MT=SNP;MM=CM;CADD=29.5;VMM=30.9;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P1954L|3014|CELSR1|protein_coding|CODING|ENST00000262738|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 150738180 Sibling 48B C T . . Gene=ABCB8;MT=SNP;MM=CM;CADD=12.51;VMM=37.98;EFF=SPLICE_SITE_REGION+INTRON(LOW||||735|ABCB8|protein_coding|CODING|ENST00000297504|13|T),SPLICE_SITE_REGION+INTRON(LOW||||718|ABCB8|protein_coding|CODING|ENST00000358849|12|T),SPLICE_SITE_REGION+INTRON(LOW||||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000482309|11|T),SPLICE_SITE_REGION+INTRON(LOW||||48|ABCB8|nonsense_mediated_decay|CODING|ENST00000470645|8|T),SPLICE_SITE_REGION+INTRON(LOW||||630|ABCB8|protein_coding|CODING|ENST00000542328|11|T),SPLICE_SITE_REGION+INTRON(LOW||||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000466514|10|T),SPLICE_SITE_REGION+INTRON(LOW||||467|ABCB8|protein_coding|CODING|ENST00000356058|14|T),SPLICE_SITE_REGION+INTRON(LOW||||693|ABCB8|protein_coding|CODING|ENST00000498578|12|T),SPLICE_SITE_REGION+INTRON(LOW|||||ABCB8|retained_intron|CODING|ENST00000482899|3|T),DOWNSTREAM(MODIFIER||3569||409|ABCB8|protein_coding|CODING|ENST00000477719||T),DOWNSTREAM(MODIFIER||3523||431|ABCB8|protein_coding|CODING|ENST00000477092||T),DOWNSTREAM(MODIFIER||3507||139|ABCB8|protein_coding|CODING|ENST00000491920||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 150739135 Sibling 48B C T . . Gene=ABCB8;MT=SNP;MM=CM;CADD=27.5;VMM=37.98;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R586W|735|ABCB8|protein_coding|CODING|ENST00000297504|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R569W|718|ABCB8|protein_coding|CODING|ENST00000358849|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R481W|630|ABCB8|protein_coding|CODING|ENST00000542328|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R569W|693|ABCB8|protein_coding|CODING|ENST00000498578|14|T),UTR_3_PRIME(MODIFIER||7751||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000482309|13|T),UTR_3_PRIME(MODIFIER||7751||39|ABCB8|nonsense_mediated_decay|CODING|ENST00000466514|12|T),UTR_3_PRIME(MODIFIER||1513||467|ABCB8|protein_coding|CODING|ENST00000356058|16|T),DOWNSTREAM(MODIFIER||18||48|ABCB8|nonsense_mediated_decay|CODING|ENST00000470645||T),DOWNSTREAM(MODIFIER||4524||409|ABCB8|protein_coding|CODING|ENST00000477719||T),DOWNSTREAM(MODIFIER||4478||431|ABCB8|protein_coding|CODING|ENST00000477092||T),DOWNSTREAM(MODIFIER||4462||139|ABCB8|protein_coding|CODING|ENST00000491920||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ABCB8|retained_intron|CODING|ENST00000482899|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 95228663 Sibling 48B C T . . Gene=ASPN;MT=SNP;MM=CM;CADD=31;VMM=35.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G193E|380|ASPN|protein_coding|CODING|ENST00000375544|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G193E|243|ASPN|protein_coding|CODING|ENST00000375543|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G193E|242|ASPN|protein_coding|CODING|ENST00000395538|4|T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4350||79|ASPN|protein_coding|CODING|ENST00000450139||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||288|CENPP|protein_coding|CODING|ENST00000375587|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 95236796 Sibling 48B A G . . Gene=ASPN;MT=SNP;MM=CM;CADD=10.75;VMM=35.2;EFF=INTRON(MODIFIER||||288|CENPP|protein_coding|CODING|ENST00000375587|5|G),INTRON(MODIFIER||||380|ASPN|protein_coding|CODING|ENST00000375544|2|G),INTRON(MODIFIER||||243|ASPN|protein_coding|CODING|ENST00000375543|2|G),INTRON(MODIFIER||||242|ASPN|protein_coding|CODING|ENST00000395538|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||79|ASPN|protein_coding|CODING|ENST00000450139|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 40091340 Sibling 49A G A . . Gene=GPR176;MT=SNP;MM=HR;CADD=15.7;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1993||514|GPR176|protein_coding|CODING|ENST00000299092|4|A),DOWNSTREAM(MODIFIER||1591||515|GPR176|protein_coding|CODING|ENST00000561100||A),DOWNSTREAM(MODIFIER||1810||470|GPR176|protein_coding|CODING|ENST00000543580||A),DOWNSTREAM(MODIFIER||2488|||GPR176|processed_transcript|CODING|ENST00000558041||A),DOWNSTREAM(MODIFIER||2685|||GPR176|processed_transcript|CODING|ENST00000560729||A),INTRON(MODIFIER|||||RP11-37C7.1|processed_transcript|NON_CODING|ENST00000558616|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 2129134 Sibling 49A C G . . Gene=AP3D1;MT=SNP;MM=DN;CADD=28.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cCg|R254P|1215|AP3D1|protein_coding|CODING|ENST00000355272|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cCg|R254P|1153|AP3D1|protein_coding|CODING|ENST00000345016|8|G),NEXT_PROT[repeat:HEAT_5](LOW||||1215|AP3D1|protein_coding|CODING||8|G),NEXT_PROT[repeat:HEAT_5](LOW||||1153|AP3D1|protein_coding|CODING||8|G),DOWNSTREAM(MODIFIER||3333|||AP3D1|processed_transcript|CODING|ENST00000591284||G),INTRON(MODIFIER||||1112|AP3D1|protein_coding|CODING|ENST00000356926|6|G),INTRON(MODIFIER||||984|AP3D1|protein_coding|CODING|ENST00000350812|4|G),EXON(MODIFIER|||||AP3D1|processed_transcript|CODING|ENST00000590683|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 71349605 Sibling 49A G A . . Gene=RGAG4;MT=SNP;MM=XL;CADD=16.44;VMM=0;EFF=UTR_3_PRIME(MODIFIER||76||569|RGAG4|nonsense_mediated_decay|CODING|ENST00000479991|1|A),UTR_3_PRIME(MODIFIER||76||569|RGAG4|protein_coding|CODING|ENST00000545866|1|A),UTR_3_PRIME(MODIFIER||76||569|RGAG4|protein_coding|CODING|ENST00000609883|1|A),UPSTREAM(MODIFIER||2395|||RP11-262D11.1|unprocessed_pseudogene|NON_CODING|ENST00000513469||A),UPSTREAM(MODIFIER||3894||709|NHSL2|protein_coding|CODING|ENST00000373677||A),UPSTREAM(MODIFIER||4395||844|NHSL2|protein_coding|CODING|ENST00000510661||A),UPSTREAM(MODIFIER||4395||709|NHSL2|protein_coding|CODING|ENST00000535692||A),INTRON(MODIFIER||||1225|NHSL2|protein_coding|CODING|ENST00000540800|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 80001189 Sibling 49A C T . . Gene=BRWD3;MT=SNP;MM=XL;CADD=25.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R157H|1802|BRWD3|protein_coding|CODING|ENST00000373275|7|T),EXON(MODIFIER|||||BRWD3|processed_transcript|CODING|ENST00000478415|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 129505562 Sibling 49A G T . . Gene=SLC25A14;MT=SNP;MM=XL;CADD=24.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A322S|353|SLC25A14|protein_coding|CODING|ENST00000339231|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A294S|325|SLC25A14|protein_coding|CODING|ENST00000218197|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Tca|A291S|322|SLC25A14|protein_coding|CODING|ENST00000361980|9|T),UTR_3_PRIME(MODIFIER||6832||205|SLC25A14|protein_coding|CODING|ENST00000543953|8|T),EXON(MODIFIER|||||SLC25A14|processed_transcript|CODING|ENST00000478474|7|T),EXON(MODIFIER|||||SLC25A14|processed_transcript|CODING|ENST00000465988|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 180332544 Sibling 49A CAGT C . . Gene=CCDC39;MT=INDEL;MM=CM;CADD=14.67;VMM=41.68;EFF=UTR_3_PRIME(MODIFIER||162||941|CCDC39|protein_coding|CODING|ENST00000442201|20|C),UTR_3_PRIME(MODIFIER||4589||671|CCDC39|nonsense_mediated_decay|CODING|ENST00000476379|25|C),UTR_3_PRIME(MODIFIER||4589||755|CCDC39|protein_coding|CODING|ENST00000273654|25|C),DOWNSTREAM(MODIFIER||3779||770|TTC14|protein_coding|CODING|ENST00000296015||C),DOWNSTREAM(MODIFIER||3783||439|TTC14|protein_coding|CODING|ENST00000412756||C),DOWNSTREAM(MODIFIER||3783||175|TTC14|nonsense_mediated_decay|CODING|ENST00000465065||C),DOWNSTREAM(MODIFIER||4754||439|TTC14|nonsense_mediated_decay|CODING|ENST00000470669||C),DOWNSTREAM(MODIFIER||4589|||TTC14|processed_transcript|CODING|ENST00000465625||C),DOWNSTREAM(MODIFIER||3777|||TTC14|processed_transcript|CODING|ENST00000487397||C),INTRON(MODIFIER||||653|TTC14|protein_coding|CODING|ENST00000382584|12|C),INTRON(MODIFIER||||101|CCDC39|protein_coding|CODING|ENST00000473854|3|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||67|CCDC39|protein_coding|CODING|ENST00000489868|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 180366008 Sibling 49A T G . . Gene=CCDC39;MT=SNP;MM=CM;CADD=24.8;VMM=41.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q436P|941|CCDC39|protein_coding|CODING|ENST00000442201|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q436P|671|CCDC39|nonsense_mediated_decay|CODING|ENST00000476379|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q520P|755|CCDC39|protein_coding|CODING|ENST00000273654|16|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 7770645 Sibling 49A C T . . Gene=AFAP1;MT=SNP;MM=CM;CADD=29.3;VMM=52.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A782T|814|AFAP1|protein_coding|CODING|ENST00000382543|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A698T|730|AFAP1|protein_coding|CODING|ENST00000360265|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A698T|730|AFAP1|protein_coding|CODING|ENST00000358461|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A782T|814|AFAP1|protein_coding|CODING|ENST00000420658|17|T),INTRON(MODIFIER|||||AFAP1-AS1|antisense|NON_CODING|ENST00000608442|1|T),EXON(MODIFIER|||||AFAP1|retained_intron|CODING|ENST00000505447|4|T),EXON(MODIFIER|||||AFAP1|processed_transcript|CODING|ENST00000513842|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 7783099 Sibling 49A G A . . Gene=AFAP1;MT=SNP;MM=CM;CADD=15.25;VMM=52.78;EFF=SPLICE_SITE_REGION+INTRON(LOW||||814|AFAP1|protein_coding|CODING|ENST00000382543|12|A),SPLICE_SITE_REGION+INTRON(LOW||||814|AFAP1|protein_coding|CODING|ENST00000420658|13|A),SPLICE_SITE_REGION+INTRON(LOW|||||AFAP1|processed_transcript|CODING|ENST00000513842|4|A),UPSTREAM(MODIFIER||2185|||AFAP1|retained_intron|CODING|ENST00000505447||A),DOWNSTREAM(MODIFIER||2444|||AFAP1-AS1|antisense|NON_CODING|ENST00000608442||A),INTRON(MODIFIER||||730|AFAP1|protein_coding|CODING|ENST00000360265|11|A),INTRON(MODIFIER||||730|AFAP1|protein_coding|CODING|ENST00000358461|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 75485656 Sibling 50A G A . . Gene=TMEM170A;MT=SNP;MM=HM;CADD=27;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T72I|140|RP11-77K12.1|protein_coding|CODING|ENST00000567194|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T72I|144|TMEM170A|protein_coding|CODING|ENST00000561878|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T72I|121|TMEM170A|protein_coding|CODING|ENST00000357613|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T72I|121|TMEM170A|nonsense_mediated_decay|CODING|ENST00000568559|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T34I|106|TMEM170A|protein_coding|CODING|ENST00000569540|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T27I|99|TMEM170A|protein_coding|CODING|ENST00000567796|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T27I|76|TMEM170A|protein_coding|CODING|ENST00000566980|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aTc|T72I|113|TMEM170A|protein_coding|CODING|ENST00000569276|2|A),NEXT_PROT[topological-domain:Cytoplasmic](LOW||||144|TMEM170A|protein_coding|CODING||2|A),INTRON(MODIFIER|||||RP11-77K12.1|processed_transcript|CODING|ENST00000561887|1|A),INTRON(MODIFIER||||83|RP11-77K12.1|protein_coding|CODING|ENST00000566594|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 56642526 Sibling 50A GTCT G . . Gene=TEX14;MT=INDEL;MM=HR;CADD=17.51;VMM=0;EFF=UPSTREAM(MODIFIER||908|||TEX14|processed_transcript|CODING|ENST00000584699||G),DOWNSTREAM(MODIFIER||586||151|TEX14|nonsense_mediated_decay|CODING|ENST00000581147||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1497|TEX14|protein_coding|CODING|ENST00000240361|28|G),INTRON(MODIFIER||||1491|TEX14|protein_coding|CODING|ENST00000389934|28|G),INTRON(MODIFIER||||1451|TEX14|protein_coding|CODING|ENST00000349033|27|G),INTRON(MODIFIER||||66|TEX14|nonsense_mediated_decay|CODING|ENST00000582740|27|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42177973 Sibling 50A G A . . Gene=SPTBN5;MT=SNP;MM=CM;CADD=25.8;VMM=89.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R494W|3674|SPTBN5|protein_coding|CODING|ENST00000320955|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42180157 Sibling 50A G T . . Gene=SPTBN5;MT=SNP;MM=CM;CADD=25.5;VMM=89.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L210M|3674|SPTBN5|protein_coding|CODING|ENST00000320955|5|T),UPSTREAM(MODIFIER||4834|||RP11-23P13.6|antisense|NON_CODING|ENST00000309874||T),UPSTREAM(MODIFIER||4834|||RP11-23P13.6|antisense|NON_CODING|ENST00000564432||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 133430969 Sibling 50A C G . . Gene=NCKAP5;MT=SNP;MM=CM;CADD=12.84;VMM=46.13;EFF=UPSTREAM(MODIFIER||3191||141|LYPD1|protein_coding|CODING|ENST00000397463||G),UPSTREAM(MODIFIER||1817||89|LYPD1|protein_coding|CODING|ENST00000345008||G),UPSTREAM(MODIFIER||3196||39|LYPD1|nonsense_mediated_decay|CODING|ENST00000449209||G),INTRON(MODIFIER||||1909|NCKAP5|protein_coding|CODING|ENST00000317721|17|G),INTRON(MODIFIER||||1909|NCKAP5|protein_coding|CODING|ENST00000409261|19|G),INTRON(MODIFIER||||590|NCKAP5|protein_coding|CODING|ENST00000409213|17|G),INTRON(MODIFIER||||590|NCKAP5|protein_coding|CODING|ENST00000405974|15|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 133540465 Sibling 50A C T . . Gene=NCKAP5;MT=SNP;MM=CM;CADD=32;VMM=46.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1307K|1909|NCKAP5|protein_coding|CODING|ENST00000317721|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1307K|1909|NCKAP5|protein_coding|CODING|ENST00000409261|14|T),UPSTREAM(MODIFIER||869|||NCKAP5|processed_transcript|CODING|ENST00000473859||T),INTRON(MODIFIER||||590|NCKAP5|protein_coding|CODING|ENST00000409213|13|T),INTRON(MODIFIER||||590|NCKAP5|protein_coding|CODING|ENST00000405974|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32011325 Sibling 50A C T . . Gene=TNXB;MT=SNP;MM=CM;CADD=24.9;VMM=61.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G3847S|4244|TNXB|protein_coding|CODING|ENST00000375244|36|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G276S|673|TNXB|protein_coding|CODING|ENST00000451343|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G3845S|4242|TNXB|protein_coding|CODING|ENST00000375247|36|T),UPSTREAM(MODIFIER||96|||TNXB|retained_intron|CODING|ENST00000498094||T),DOWNSTREAM(MODIFIER||1878||495|CYP21A2|protein_coding|CODING|ENST00000418967||T),DOWNSTREAM(MODIFIER||3724||108|CYP21A2|nonsense_mediated_decay|CODING|ENST00000466779||T),DOWNSTREAM(MODIFIER||1906|||CYP21A2|retained_intron|CODING|ENST00000486063||T),DOWNSTREAM(MODIFIER||1906|||CYP21A2|retained_intron|CODING|ENST00000479074||T),DOWNSTREAM(MODIFIER||1906|||CYP21A2|retained_intron|CODING|ENST00000479730||T),DOWNSTREAM(MODIFIER||4433|||CYP21A2|retained_intron|CODING|ENST00000480027||T),DOWNSTREAM(MODIFIER||2362|||CYP21A2|retained_intron|CODING|ENST00000483041||T),DOWNSTREAM(MODIFIER||4115||185|CYP21A2|protein_coding|CODING|ENST00000478281||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4064|||CYP21A2|retained_intron|CODING|ENST00000488465||T),DOWNSTREAM(MODIFIER||3942||189|CYP21A2|protein_coding|CODING|ENST00000471671||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1906||465|CYP21A2|protein_coding|CODING|ENST00000435122||T),DOWNSTREAM(MODIFIER||3908||78|CYP21A2|nonsense_mediated_decay|CODING|ENST00000469053||T),DOWNSTREAM(MODIFIER||3792|||CYP21A2|retained_intron|CODING|ENST00000464325||T),DOWNSTREAM(MODIFIER||3725|||CYP21A2|retained_intron|CODING|ENST00000466879||T),DOWNSTREAM(MODIFIER||3576|||CYP21A2|retained_intron|CODING|ENST00000462278||T),EXON(MODIFIER|||||TNXB|retained_intron|CODING|ENST00000490077|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32017224 Sibling 50A C T . . Gene=TNXB;MT=SNP;MM=CM;CADD=19.84;VMM=61.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3194N|4244|TNXB|protein_coding|CODING|ENST00000375244|28|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D3192N|4242|TNXB|protein_coding|CODING|ENST00000375247|28|T),UPSTREAM(MODIFIER||3319||673|TNXB|protein_coding|CODING|ENST00000451343||T),UPSTREAM(MODIFIER||2840|||TNXB|retained_intron|CODING|ENST00000490077||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 44680935 Sibling 51A AGT A . . Gene=ZNF226;MT=INDEL;MM=DN;CADD=34;VMM=0;EFF=FRAME_SHIFT(HIGH||gagtgt/|EC507|803|ZNF226|protein_coding|CODING|ENST00000337433|6|A),FRAME_SHIFT(HIGH||gagtgt/|EC507|803|ZNF226|protein_coding|CODING|ENST00000590089|7|A),FRAME_SHIFT(HIGH||gagtgt/|EC507|803|ZNF226|protein_coding|CODING|ENST00000454662|6|A),UTR_3_PRIME(MODIFIER||3796||89|ZNF226|protein_coding|CODING|ENST00000588883|5|A),DOWNSTREAM(MODIFIER||1140||126|ZNF226|protein_coding|CODING|ENST00000590578||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3592||89|ZNF226|protein_coding|CODING|ENST00000589160||A),DOWNSTREAM(MODIFIER||3849||71|ZNF226|protein_coding|CODING|ENST00000586286||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3868||65|ZNF226|protein_coding|CODING|ENST00000585560||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1253||88|ZNF226|protein_coding|CODING|ENST00000586914||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1625||94|ZNF226|protein_coding|CODING|ENST00000413984||A),DOWNSTREAM(MODIFIER||1750||94|ZNF226|protein_coding|CODING|ENST00000588742||A),DOWNSTREAM(MODIFIER||1354||94|ZNF226|protein_coding|CODING|ENST00000300823||A),DOWNSTREAM(MODIFIER||1071||113|ZNF226|protein_coding|CODING|ENST00000585678||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4629||26|ZNF226|protein_coding|CODING|ENST00000586203||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3884||59|ZNF226|protein_coding|CODING|ENST00000590467||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3549||89|ZNF226|protein_coding|CODING|ENST00000588795||A),DOWNSTREAM(MODIFIER||1104||138|ZNF226|protein_coding|CODING|ENST00000588127||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1062||152|ZNF226|protein_coding|CODING|ENST00000590524||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4025|||ZNF226|retained_intron|CODING|ENST00000590759||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43888839 Sibling 51A A C . . Gene=SZT2;MT=SNP;MM=CM;CADD=25.8;VMM=31.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Ccg|T703P|3375|SZT2|protein_coding|CODING|ENST00000562955|15|C),UTR_5_PRIME(MODIFIER||1671||2533|SZT2|protein_coding|CODING|ENST00000372442|1|C),EXON(MODIFIER|||||SZT2|retained_intron|CODING|ENST00000470139|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 43913634 Sibling 51A C T . . Gene=SZT2;MT=SNP;MM=CM;CADD=11.31;VMM=31.27;EFF=SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H3128|3375|SZT2|protein_coding|CODING|ENST00000562955|67|T),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|H2286|2533|SZT2|protein_coding|CODING|ENST00000372442|53|T),DOWNSTREAM(MODIFIER||3191||302|HYI|protein_coding|CODING|ENST00000372434||T),DOWNSTREAM(MODIFIER||3190|||HYI|retained_intron|CODING|ENST00000483618||T),DOWNSTREAM(MODIFIER||3190||277|HYI|protein_coding|CODING|ENST00000372425||T),DOWNSTREAM(MODIFIER||3190||204|HYI|protein_coding|CODING|ENST00000583037||T),DOWNSTREAM(MODIFIER||3191||212|HYI|protein_coding|CODING|ENST00000372433||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3195||185|HYI|protein_coding|CODING|ENST00000470662||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3195||160|HYI|protein_coding|CODING|ENST00000487366||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3195||237|HYI|protein_coding|CODING|ENST00000372430||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3195||247|HYI|protein_coding|CODING|ENST00000372432||T),DOWNSTREAM(MODIFIER||3197||229|HYI|protein_coding|CODING|ENST00000372426||T),DOWNSTREAM(MODIFIER||3197|||HYI|retained_intron|CODING|ENST00000372427||T),DOWNSTREAM(MODIFIER||3357||276|HYI|protein_coding|CODING|ENST00000486909||T),DOWNSTREAM(MODIFIER||3704|||HYI|retained_intron|CODING|ENST00000496142||T),INTRON(MODIFIER|||||SZT2-AS1|antisense|NON_CODING|ENST00000396885|1|T),EXON(MODIFIER|||||SZT2|retained_intron|CODING|ENST00000460536|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 37508365 Sibling 51A C T . . Gene=ANKRD30A;MT=SNP;MM=CM;CADD=13.94;VMM=45.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1305M|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|40|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1186M|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|34|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1186M|1341|ANKRD30A|protein_coding|CODING|ENST00000602533|34|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 37508578 Sibling 51A CTG C . . Gene=ANKRD30A;MT=INDEL;MM=CM;CADD=28.5;VMM=45.44;EFF=FRAME_SHIFT(HIGH||actgaa/|TE1376|1460|ANKRD30A|protein_coding|CODING|ENST00000374660|40|C),FRAME_SHIFT(HIGH||actgaa/|TE1257|1341|ANKRD30A|protein_coding|CODING|ENST00000361713|34|C),FRAME_SHIFT(HIGH||actgaa/|TE1257|1341|ANKRD30A|protein_coding|CODING|ENST00000602533|34|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50655357 Sibling 51A G C . . Gene=SOS2;MT=SNP;MM=CM;CADD=23.4;VMM=39.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P191R|1332|SOS2|protein_coding|CODING|ENST00000216373|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cGt|P191R|1299|SOS2|protein_coding|CODING|ENST00000543680|5|C),INTRON(MODIFIER|||||SOS2|processed_transcript|CODING|ENST00000556469|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 50667627 Sibling 51A T C . . Gene=SOS2;MT=SNP;MM=CM;CADD=14.7;VMM=39.2;EFF=DOWNSTREAM(MODIFIER||129||70|SOS2|nonsense_mediated_decay|CODING|ENST00000556452||C),INTRON(MODIFIER||||1332|SOS2|protein_coding|CODING|ENST00000216373|3|C),INTRON(MODIFIER||||1299|SOS2|protein_coding|CODING|ENST00000543680|3|C),INTRON(MODIFIER|||||SOS2|processed_transcript|CODING|ENST00000556469|3|C),INTRON(MODIFIER|||||SOS2|processed_transcript|CODING|ENST00000555666|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3854941 Sibling 51A G A . . Gene=ATP2A3;MT=SNP;MM=CM;CADD=13.57;VMM=39.24;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|1052|ATP2A3|protein_coding|CODING|ENST00000359983|4|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|1029|ATP2A3|protein_coding|CODING|ENST00000397035|4|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|999|ATP2A3|protein_coding|CODING|ENST00000397041|4|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|1029|ATP2A3|protein_coding|CODING|ENST00000309890|4|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|1043|ATP2A3|protein_coding|CODING|ENST00000352011|4|A),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T86|998|ATP2A3|protein_coding|CODING|ENST00000397043|4|A),START_GAINED(LOW||||216|ATP2A3|protein_coding|CODING|ENST00000397039|4|A),UTR_5_PRIME(MODIFIER||15305||216|ATP2A3|protein_coding|CODING|ENST00000397039|4|A),DOWNSTREAM(MODIFIER||1634|||ATP2A3|retained_intron|CODING|ENST00000574202||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3856724 Sibling 51A C G . . Gene=ATP2A3;MT=SNP;MM=CM;CADD=25.7;VMM=39.24;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||1052|ATP2A3|protein_coding|CODING|ENST00000359983|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||1029|ATP2A3|protein_coding|CODING|ENST00000397035|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||999|ATP2A3|protein_coding|CODING|ENST00000397041|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||1029|ATP2A3|protein_coding|CODING|ENST00000309890|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||216|ATP2A3|protein_coding|CODING|ENST00000397039|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||1043|ATP2A3|protein_coding|CODING|ENST00000352011|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||998|ATP2A3|protein_coding|CODING|ENST00000397043|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||ATP2A3|retained_intron|CODING|ENST00000574202|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 16852292 Sibling 51A G GT . . Gene=TNFRSF13B;MT=INDEL;MM=CM;CADD=28.6;VMM=30.29;EFF=FRAME_SHIFT(HIGH||tca/tcaA|S68S?|293|TNFRSF13B|protein_coding|CODING|ENST00000261652|3|GT),FRAME_SHIFT(HIGH||tca/tcaA|S22S?|248|TNFRSF13B|protein_coding|CODING|ENST00000437538|2|GT),FRAME_SHIFT(HIGH||tca/tcaA|S22S?|248|TNFRSF13B|nonsense_mediated_decay|CODING|ENST00000584950|2|GT),FRAME_SHIFT(HIGH||tca/tcaA|S68S?|156|TNFRSF13B|protein_coding|CODING|ENST00000579315|3|GT),FRAME_SHIFT(HIGH||tca/tcaA|S22S?|247|TNFRSF13B|protein_coding|CODING|ENST00000583789|2|GT),EXON(MODIFIER|||||TNFRSF13B|retained_intron|CODING|ENST00000582931|2|GT),EXON(MODIFIER|||||TNFRSF13B|processed_transcript|CODING|ENST00000581616|3|GT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 16875317 Sibling 51A CCG C . . Gene=TNFRSF13B;MT=INDEL;MM=CM;CADD=10.18;VMM=30.29;EFF=DOWNSTREAM(MODIFIER||3995|||AC104024.1|lincRNA|NON_CODING|ENST00000428142||C),INTRON(MODIFIER||||293|TNFRSF13B|protein_coding|CODING|ENST00000261652|1|C),INTRON(MODIFIER||||248|TNFRSF13B|protein_coding|CODING|ENST00000437538|1|C),INTRON(MODIFIER||||248|TNFRSF13B|nonsense_mediated_decay|CODING|ENST00000584950|1|C),INTRON(MODIFIER|||||TNFRSF13B|retained_intron|CODING|ENST00000582931|1|C),INTRON(MODIFIER||||156|TNFRSF13B|protein_coding|CODING|ENST00000579315|1|C),INTRON(MODIFIER||||247|TNFRSF13B|protein_coding|CODING|ENST00000583789|1|C),INTRON(MODIFIER|||||TNFRSF13B|processed_transcript|CODING|ENST00000581616|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677043 Sibling 52A CTG C . . Gene=PPFIBP1;MT=INDEL;MM=HR;CADD=19.05;VMM=0;EFF=UPSTREAM(MODIFIER||95||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||C),UPSTREAM(MODIFIER||31||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||47||109|PPFIBP1|protein_coding|CODING|ENST00000545334||C),UPSTREAM(MODIFIER||62||743|PPFIBP1|protein_coding|CODING|ENST00000540114||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||63|||PPFIBP1|processed_transcript|CODING|ENST00000541633||C),UPSTREAM(MODIFIER||71||858|PPFIBP1|protein_coding|CODING|ENST00000537927||C),UPSTREAM(MODIFIER||109||170|PPFIBP1|protein_coding|CODING|ENST00000535047||C),UPSTREAM(MODIFIER||113||980|PPFIBP1|protein_coding|CODING|ENST00000542629||C),UPSTREAM(MODIFIER||145||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||C),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677046 Sibling 52A A C . . Gene=PPFIBP1;MT=SNP;MM=HR;CADD=15.92;VMM=0;EFF=UPSTREAM(MODIFIER||93||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||C),UPSTREAM(MODIFIER||29||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||45||109|PPFIBP1|protein_coding|CODING|ENST00000545334||C),UPSTREAM(MODIFIER||60||743|PPFIBP1|protein_coding|CODING|ENST00000540114||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||61|||PPFIBP1|processed_transcript|CODING|ENST00000541633||C),UPSTREAM(MODIFIER||69||858|PPFIBP1|protein_coding|CODING|ENST00000537927||C),UPSTREAM(MODIFIER||107||170|PPFIBP1|protein_coding|CODING|ENST00000535047||C),UPSTREAM(MODIFIER||111||980|PPFIBP1|protein_coding|CODING|ENST00000542629||C),UPSTREAM(MODIFIER||143||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||C),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677047 Sibling 52A T C . . Gene=PPFIBP1;MT=SNP;MM=HR;CADD=16.46;VMM=0;EFF=UPSTREAM(MODIFIER||92||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||C),UPSTREAM(MODIFIER||28||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||44||109|PPFIBP1|protein_coding|CODING|ENST00000545334||C),UPSTREAM(MODIFIER||59||743|PPFIBP1|protein_coding|CODING|ENST00000540114||C|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||60|||PPFIBP1|processed_transcript|CODING|ENST00000541633||C),UPSTREAM(MODIFIER||68||858|PPFIBP1|protein_coding|CODING|ENST00000537927||C),UPSTREAM(MODIFIER||106||170|PPFIBP1|protein_coding|CODING|ENST00000535047||C),UPSTREAM(MODIFIER||110||980|PPFIBP1|protein_coding|CODING|ENST00000542629||C),UPSTREAM(MODIFIER||142||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||C),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677053 Sibling 52A C CAGGG . . Gene=PPFIBP1;MT=INDEL;MM=HR;CADD=17.68;VMM=0;EFF=UPSTREAM(MODIFIER||85||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||CAGGG),UPSTREAM(MODIFIER||21||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381||CAGGG|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||37||109|PPFIBP1|protein_coding|CODING|ENST00000545334||CAGGG),UPSTREAM(MODIFIER||52||743|PPFIBP1|protein_coding|CODING|ENST00000540114||CAGGG|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||53|||PPFIBP1|processed_transcript|CODING|ENST00000541633||CAGGG),UPSTREAM(MODIFIER||61||858|PPFIBP1|protein_coding|CODING|ENST00000537927||CAGGG),UPSTREAM(MODIFIER||99||170|PPFIBP1|protein_coding|CODING|ENST00000535047||CAGGG),UPSTREAM(MODIFIER||103||980|PPFIBP1|protein_coding|CODING|ENST00000542629||CAGGG),UPSTREAM(MODIFIER||135||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||CAGGG),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|CAGGG|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 27677084 Sibling 52A A AG . . Gene=PPFIBP1;MT=INDEL;MM=HR;CADD=15.39;VMM=0;EFF=MOTIF[MA0079.2:SP1](LOW||||||||||AG),UTR_5_PRIME(MODIFIER||109245||280|PPFIBP1|non_stop_decay|CODING|ENST00000545381|1|AG|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||54||1011|PPFIBP1|protein_coding|CODING|ENST00000318304||AG),UPSTREAM(MODIFIER||6||109|PPFIBP1|protein_coding|CODING|ENST00000545334||AG),UPSTREAM(MODIFIER||21||743|PPFIBP1|protein_coding|CODING|ENST00000540114||AG|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||22|||PPFIBP1|processed_transcript|CODING|ENST00000541633||AG),UPSTREAM(MODIFIER||30||858|PPFIBP1|protein_coding|CODING|ENST00000537927||AG),UPSTREAM(MODIFIER||68||170|PPFIBP1|protein_coding|CODING|ENST00000535047||AG),UPSTREAM(MODIFIER||72||980|PPFIBP1|protein_coding|CODING|ENST00000542629||AG),UPSTREAM(MODIFIER||104||1005|PPFIBP1|protein_coding|CODING|ENST00000228425||AG),INTRON(MODIFIER||||17|PPFIBP1|protein_coding|CODING|ENST00000538433|1|AG|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 30916736 Sibling 52A A G . . Gene=WRN;MT=SNP;MM=DN;CADD=23.6;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1432|WRN|protein_coding|CODING||3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y55C|1432|WRN|protein_coding|CODING|ENST00000298139|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 54842096 Sibling 52A G A . . Gene=MAGED2;MT=SNP;MM=XL;CADD=20.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C601Y|606|MAGED2|protein_coding|CODING|ENST00000218439|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C601Y|606|MAGED2|protein_coding|CODING|ENST00000375068|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C601Y|606|MAGED2|protein_coding|CODING|ENST00000375053|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C583Y|588|MAGED2|protein_coding|CODING|ENST00000347546|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C516Y|521|MAGED2|protein_coding|CODING|ENST00000375062|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C601Y|606|MAGED2|protein_coding|CODING|ENST00000375058|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C516Y|521|MAGED2|protein_coding|CODING|ENST00000375060|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C601Y|606|MAGED2|protein_coding|CODING|ENST00000396224|12|A),DOWNSTREAM(MODIFIER||1166|||SNORA11|snoRNA|NON_CODING|ENST00000408789||A),DOWNSTREAM(MODIFIER||4019|||MAGED2|processed_transcript|CODING|ENST00000463787||A),DOWNSTREAM(MODIFIER||4533|||MAGED2|processed_transcript|CODING|ENST00000497484||A),DOWNSTREAM(MODIFIER||2502|||MAGED2|processed_transcript|CODING|ENST00000487482||A),DOWNSTREAM(MODIFIER||2329|||MAGED2|processed_transcript|CODING|ENST00000487463||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 150868560 Sibling 52A C A . . Gene=PRRG3;MT=SNP;MM=XL;CADD=21.3;VMM=0;EFF=SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R34|231|PRRG3|protein_coding|CODING|ENST00000370353|3|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R34|51|PRRG3|protein_coding|CODING|ENST00000448726|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R34|231|PRRG3|protein_coding|CODING|ENST00000538575|3|A),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|R42|102|PRRG3|protein_coding|CODING|ENST00000370354|3|A),UPSTREAM(MODIFIER||463||91|PRRG3|protein_coding|CODING|ENST00000448324||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153581714 Sibling 52A G A . . Gene=FLNA;MT=SNP;MM=XL;CADD=25.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1991L|2647|FLNA|protein_coding|CODING|ENST00000369850|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1983L|2639|FLNA|protein_coding|CODING|ENST00000360319|35|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1983L|2639|FLNA|protein_coding|CODING|ENST00000422373|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S124L|780|FLNA|protein_coding|CODING|ENST00000369856|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S1951L|2607|FLNA|protein_coding|CODING|ENST00000344736|34|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S52L|89|FLNA|nonsense_mediated_decay|CODING|ENST00000415241|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S215L|230|FLNA|protein_coding|CODING|ENST00000438732|6|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||11343||604|FLNA|nonsense_mediated_decay|CODING|ENST00000420627|36|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||463|||FLNA|processed_transcript|CODING|ENST00000498411||A),UPSTREAM(MODIFIER||2143|||FLNA|processed_transcript|CODING|ENST00000498491||A),UPSTREAM(MODIFIER||2991|||FLNA|retained_intron|CODING|ENST00000462590||A),UPSTREAM(MODIFIER||177||280|FLNA|protein_coding|CODING|ENST00000444578||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||563|||FLNA|retained_intron|CODING|ENST00000474358||A),DOWNSTREAM(MODIFIER||684|||FLNA|retained_intron|CODING|ENST00000474072||A),DOWNSTREAM(MODIFIER||4195|||FLNA|processed_transcript|CODING|ENST00000466319||A),EXON(MODIFIER|||||FLNA|retained_intron|CODING|ENST00000490936|13|A),EXON(MODIFIER|||||FLNA|retained_intron|CODING|ENST00000466325|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201184294 Sibling 52A C T . . Gene=IGFN1;MT=SNP;MM=CM;CADD=14.15;VMM=39.64;EFF=INTRON(MODIFIER||||3708|IGFN1|protein_coding|CODING|ENST00000335211|14|T),INTRON(MODIFIER||||570|IGFN1|protein_coding|CODING|ENST00000451870|15|T),INTRON(MODIFIER||||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|15|T),INTRON(MODIFIER||||608|IGFN1|protein_coding|CODING|ENST00000295591|14|T),INTRON(MODIFIER||||1125|IGFN1|protein_coding|CODING|ENST00000412892|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||IGFN1|retained_intron|CODING|ENST00000473483|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 201187759 Sibling 52A G T . . Gene=IGFN1;MT=SNP;MM=CM;CADD=24.7;VMM=39.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D3291Y|3708|IGFN1|protein_coding|CODING|ENST00000335211|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D451Y|608|IGFN1|protein_coding|CODING|ENST00000295591|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Tat|D708Y|1125|IGFN1|protein_coding|CODING|ENST00000412892|7|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||2648||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|20|T),DOWNSTREAM(MODIFIER||3482|||RP11-567E21.3|antisense|NON_CODING|ENST00000453155||T),DOWNSTREAM(MODIFIER||2648||570|IGFN1|protein_coding|CODING|ENST00000451870||T),EXON(MODIFIER|||||IGFN1|retained_intron|CODING|ENST00000473483|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119050957 Sibling 52A C T . . Gene=NLRX1;MT=SNP;MM=CM;CADD=23.3;VMM=41.78;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||975|NLRX1|protein_coding|CODING||7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R743C|975|NLRX1|protein_coding|CODING|ENST00000292199|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R743C|975|NLRX1|protein_coding|CODING|ENST00000409991|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R743C|921|NLRX1|protein_coding|CODING|ENST00000409265|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R743C|975|NLRX1|protein_coding|CODING|ENST00000409109|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R743C|921|NLRX1|protein_coding|CODING|ENST00000525863|6|T),DOWNSTREAM(MODIFIER||50|||NLRX1|processed_transcript|CODING|ENST00000469103||T),EXON(MODIFIER|||||NLRX1|retained_intron|CODING|ENST00000481860|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 119053001 Sibling 52A G A . . Gene=NLRX1;MT=SNP;MM=CM;CADD=15.53;VMM=41.78;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A851|975|NLRX1|protein_coding|CODING|ENST00000292199|9|A),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A851|975|NLRX1|protein_coding|CODING|ENST00000409991|9|A),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A851|921|NLRX1|protein_coding|CODING|ENST00000409265|9|A),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A851|975|NLRX1|protein_coding|CODING|ENST00000409109|9|A),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A851|921|NLRX1|protein_coding|CODING|ENST00000525863|8|A),UPSTREAM(MODIFIER||3871||571|PDZD3|protein_coding|CODING|ENST00000392817||A),UPSTREAM(MODIFIER||3165|||PDZD3|retained_intron|CODING|ENST00000527308||A),UPSTREAM(MODIFIER||3183|||PDZD3|retained_intron|CODING|ENST00000526279||A),UPSTREAM(MODIFIER||3183|||PDZD3|retained_intron|CODING|ENST00000527951||A),UPSTREAM(MODIFIER||3183||492|PDZD3|protein_coding|CODING|ENST00000525131||A),UPSTREAM(MODIFIER||3183|||PDZD3|retained_intron|CODING|ENST00000534790||A),UPSTREAM(MODIFIER||3183|||PDZD3|retained_intron|CODING|ENST00000529098||A),UPSTREAM(MODIFIER||3183|||PDZD3|retained_intron|CODING|ENST00000527028||A),UPSTREAM(MODIFIER||3183||571|PDZD3|protein_coding|CODING|ENST00000531114||A),UPSTREAM(MODIFIER||3188||119|PDZD3|nonsense_mediated_decay|CODING|ENST00000533688||A),UPSTREAM(MODIFIER||3188||505|PDZD3|protein_coding|CODING|ENST00000355547||A),UPSTREAM(MODIFIER||3191|||PDZD3|retained_intron|CODING|ENST00000526836||A),UPSTREAM(MODIFIER||3194|||PDZD3|retained_intron|CODING|ENST00000528730||A),UPSTREAM(MODIFIER||3194||491|PDZD3|protein_coding|CODING|ENST00000322712||A),UPSTREAM(MODIFIER||3195|||PDZD3|retained_intron|CODING|ENST00000529573||A),DOWNSTREAM(MODIFIER||935|||NLRX1|retained_intron|CODING|ENST00000481860||A),DOWNSTREAM(MODIFIER||2094|||NLRX1|processed_transcript|CODING|ENST00000469103||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 32883932 Sibling 52A C T . . Gene=DNM1L;MT=SNP;MM=CM;CADD=18.51;VMM=32.02;EFF=UPSTREAM(MODIFIER||3611|||RP11-278C7.1|processed_pseudogene|NON_CODING|ENST00000550917||T),UPSTREAM(MODIFIER||471|||DNM1L|retained_intron|CODING|ENST00000550093||T),UPSTREAM(MODIFIER||488||47|DNM1L|nonsense_mediated_decay|CODING|ENST00000547078||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2455|||DNM1L|retained_intron|CODING|ENST00000548151||T),UPSTREAM(MODIFIER||2568|||DNM1L|retained_intron|CODING|ENST00000552743||T),INTRON(MODIFIER||||749|DNM1L|protein_coding|CODING|ENST00000553257|10|T),INTRON(MODIFIER||||710|DNM1L|protein_coding|CODING|ENST00000452533|9|T),INTRON(MODIFIER||||736|DNM1L|protein_coding|CODING|ENST00000549701|9|T),INTRON(MODIFIER||||712|DNM1L|protein_coding|CODING|ENST00000358214|10|T),INTRON(MODIFIER||||699|DNM1L|protein_coding|CODING|ENST00000266481|9|T),INTRON(MODIFIER||||156|DNM1L|nonsense_mediated_decay|CODING|ENST00000434676|8|T),INTRON(MODIFIER||||180|DNM1L|nonsense_mediated_decay|CODING|ENST00000413295|7|T),INTRON(MODIFIER||||725|DNM1L|protein_coding|CODING|ENST00000547312|9|T),INTRON(MODIFIER||||533|DNM1L|protein_coding|CODING|ENST00000414834|6|T),INTRON(MODIFIER||||117|DNM1L|nonsense_mediated_decay|CODING|ENST00000546649|6|T),INTRON(MODIFIER||||738|DNM1L|protein_coding|CODING|ENST00000381000|10|T),INTRON(MODIFIER||||54|DNM1L|nonsense_mediated_decay|CODING|ENST00000546757|7|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||YARS2|processed_transcript|CODING|ENST00000551673|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 32891356 Sibling 52A T C . . Gene=DNM1L;MT=SNP;MM=CM;CADD=15.41;VMM=32.02;EFF=UPSTREAM(MODIFIER||1423|||DNM1L|retained_intron|CODING|ENST00000547640||C),UPSTREAM(MODIFIER||1732|||DNM1L|retained_intron|CODING|ENST00000553031||C),DOWNSTREAM(MODIFIER||271|||DNM1L|retained_intron|CODING|ENST00000550093||C),DOWNSTREAM(MODIFIER||126||47|DNM1L|nonsense_mediated_decay|CODING|ENST00000547078||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1116|||DNM1L|retained_intron|CODING|ENST00000548151||C),DOWNSTREAM(MODIFIER||251|||DNM1L|retained_intron|CODING|ENST00000552743||C),INTRON(MODIFIER||||749|DNM1L|protein_coding|CODING|ENST00000553257|17|C),INTRON(MODIFIER||||710|DNM1L|protein_coding|CODING|ENST00000452533|15|C),INTRON(MODIFIER||||736|DNM1L|protein_coding|CODING|ENST00000549701|16|C),INTRON(MODIFIER||||712|DNM1L|protein_coding|CODING|ENST00000358214|15|C),INTRON(MODIFIER||||699|DNM1L|protein_coding|CODING|ENST00000266481|14|C),INTRON(MODIFIER||||725|DNM1L|protein_coding|CODING|ENST00000547312|15|C),INTRON(MODIFIER||||533|DNM1L|protein_coding|CODING|ENST00000414834|13|C),INTRON(MODIFIER||||117|DNM1L|nonsense_mediated_decay|CODING|ENST00000546649|13|C),INTRON(MODIFIER||||738|DNM1L|protein_coding|CODING|ENST00000381000|16|C),INTRON(MODIFIER||||54|DNM1L|nonsense_mediated_decay|CODING|ENST00000546757|13|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||YARS2|processed_transcript|CODING|ENST00000551673|2|C),INTRON(MODIFIER|||||DNM1L|retained_intron|CODING|ENST00000549157|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117691500 Sibling 52A C T . . Gene=NOS1;MT=SNP;MM=CM;CADD=19.63;VMM=34.73;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G898D|1468|NOS1|protein_coding|CODING|ENST00000338101|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gAc|G864D|1434|NOS1|protein_coding|CODING|ENST00000317775|17|T),UTR_3_PRIME(MODIFIER||32531||407|NOS1|protein_coding|CODING|ENST00000344089|18|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 117724018 Sibling 52A T G . . Gene=NOS1;MT=SNP;MM=CM;CADD=15.62;VMM=34.73;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1468|NOS1|protein_coding|CODING||5|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||1434|NOS1|protein_coding|CODING||6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D394A|1468|NOS1|protein_coding|CODING|ENST00000338101|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|D394A|1434|NOS1|protein_coding|CODING|ENST00000317775|6|G),UTR_3_PRIME(MODIFIER||13||407|NOS1|protein_coding|CODING|ENST00000344089|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24877468 Sibling 52A G A . . Gene=NYNRIN;MT=SNP;MM=CM;CADD=23.5;VMM=35.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G198S|1898|NYNRIN|protein_coding|CODING|ENST00000382554|3|A),UPSTREAM(MODIFIER||4332|||NYNRIN|processed_transcript|CODING|ENST00000554505||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24886769 Sibling 52A G T . . Gene=NYNRIN;MT=SNP;MM=CM;CADD=13.59;VMM=35.71;EFF=UTR_3_PRIME(MODIFIER||117||1898|NYNRIN|protein_coding|CODING|ENST00000382554|9|T),DOWNSTREAM(MODIFIER||2845|||NYNRIN|processed_transcript|CODING|ENST00000554505||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 11648237 Sibling 52A A G . . Gene=DNAH9;MT=SNP;MM=CM;CADD=10.45;VMM=39.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I2079V|4486|DNAH9|protein_coding|CODING|ENST00000262442|31|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I2079V|4410|DNAH9|protein_coding|CODING|ENST00000454412|31|G),UPSTREAM(MODIFIER||3456|||AC005701.1|miRNA|NON_CODING|ENST00000584990||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 11725773 Sibling 52A CCT C . . Gene=DNAH9;MT=INDEL;MM=CM;CADD=36;VMM=39.3;EFF=FRAME_SHIFT(HIGH||cct/|P2957|4486|DNAH9|protein_coding|CODING|ENST00000262442|47|C),FRAME_SHIFT(HIGH||cct/|P2957|4410|DNAH9|protein_coding|CODING|ENST00000454412|47|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 35443984 Sibling 52A C T . . Gene=ACACA;MT=SNP;MM=CM;CADD=19.1;VMM=32.3;EFF=UTR_3_PRIME(MODIFIER||267||2383|ACACA|protein_coding|CODING|ENST00000353139|56|T),UTR_3_PRIME(MODIFIER||267||2288|ACACA|protein_coding|CODING|ENST00000360679|54|T),UTR_3_PRIME(MODIFIER||267||2346|ACACA|protein_coding|CODING|ENST00000394406|56|T),UTR_3_PRIME(MODIFIER||267||998|ACACA|protein_coding|CODING|ENST00000591119|23|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||267||2268|ACACA|protein_coding|CODING|ENST00000335166|55|T),UTR_3_PRIME(MODIFIER||62911||51|ACACA|nonsense_mediated_decay|CODING|ENST00000587233|14|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||4||95|ACACA|protein_coding|CODING|ENST00000586821|3|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||173|||ACACA|retained_intron|CODING|ENST00000593055||T),DOWNSTREAM(MODIFIER||201||472|ACACA|protein_coding|CODING|ENST00000361253||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 35444150 Sibling 52A G C . . Gene=ACACA;MT=SNP;MM=CM;CADD=15.07;VMM=32.3;EFF=UTR_3_PRIME(MODIFIER||101||2383|ACACA|protein_coding|CODING|ENST00000353139|56|C),UTR_3_PRIME(MODIFIER||101||2288|ACACA|protein_coding|CODING|ENST00000360679|54|C),UTR_3_PRIME(MODIFIER||101||2346|ACACA|protein_coding|CODING|ENST00000394406|56|C),UTR_3_PRIME(MODIFIER||101||998|ACACA|protein_coding|CODING|ENST00000591119|23|C|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||101||2268|ACACA|protein_coding|CODING|ENST00000335166|55|C),UTR_3_PRIME(MODIFIER||62745||51|ACACA|nonsense_mediated_decay|CODING|ENST00000587233|14|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||7|||ACACA|retained_intron|CODING|ENST00000593055||C),DOWNSTREAM(MODIFIER||35||472|ACACA|protein_coding|CODING|ENST00000361253||C),INTRON(MODIFIER||||95|ACACA|protein_coding|CODING|ENST00000586821|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170003335 Sibling 52A T C . . Gene=LRP2;MT=SNP;MM=CM;CADD=22.1;VMM=30.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D4242G|4655|LRP2|protein_coding|CODING|ENST00000263816|69|C),NEXT_PROT[repeat:LDL-receptor_class_B_37](LOW||||4655|LRP2|protein_coding|CODING||69|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170094756 Sibling 52A C A . . Gene=LRP2;MT=SNP;MM=CM;CADD=12.52;VMM=30.26;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Ttc|V1451F|4655|LRP2|protein_coding|CODING|ENST00000263816|27|A),DOWNSTREAM(MODIFIER||2504||1225|LRP2|protein_coding|CODING|ENST00000443831||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33582098 Sibling 52A G A . . Gene=MYH7B;MT=SNP;MM=CM;CADD=20.3;VMM=74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G907E|1983|MYH7B|protein_coding|CODING|ENST00000262873|25|A),DOWNSTREAM(MODIFIER||3798|||MIR499A|miRNA|NON_CODING|ENST00000384903||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33588185 Sibling 52A A T . . Gene=MYH7B;MT=SNP;MM=CM;CADD=28.2;VMM=74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aTg|K1666M|1983|MYH7B|protein_coding|CODING|ENST00000262873|37|T),UPSTREAM(MODIFIER||863||143|MYH7B|protein_coding|CODING|ENST00000433934||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||149|MYH7B|protein_coding|CODING|ENST00000435272||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||144|MYH7B|protein_coding|CODING|ENST00000446156||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||122|MYH7B|protein_coding|CODING|ENST00000453028||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||863||149|MYH7B|protein_coding|CODING|ENST00000456649||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2022||797|TRPC4AP|protein_coding|CODING|ENST00000252015||T),DOWNSTREAM(MODIFIER||2022||789|TRPC4AP|protein_coding|CODING|ENST00000451813||T),DOWNSTREAM(MODIFIER||2363||399|TRPC4AP|protein_coding|CODING|ENST00000539834||T),DOWNSTREAM(MODIFIER||2578||758|TRPC4AP|protein_coding|CODING|ENST00000432634||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 150387210 Sibling 52A GA G . . Gene=FAM194A;MT=INDEL;MM=CM;CADD=25;VMM=43.04;EFF=FRAME_SHIFT(HIGH||att/|I457|663|FAM194A|protein_coding|CODING|ENST00000295910|12|G),FRAME_SHIFT(HIGH||att/|I311|517|FAM194A|protein_coding|CODING|ENST00000491361|12|G),EXON(MODIFIER|||||FAM194A|retained_intron|CODING|ENST00000491716|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 150398311 Sibling 52A C A . . Gene=FAM194A;MT=SNP;MM=CM;CADD=14.94;VMM=43.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R352L|663|FAM194A|protein_coding|CODING|ENST00000295910|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cTa|R206L|517|FAM194A|protein_coding|CODING|ENST00000491361|9|A),EXON(MODIFIER|||||FAM194A|retained_intron|CODING|ENST00000491716|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50305066 Sibling 53A C T . . Gene=SEMA3B;MT=SNP;MM=CM;CADD=19.4;VMM=42.34;EFF=UPSTREAM(MODIFIER||263|||SEMA3B-AS1|antisense|NON_CODING|ENST00000421735||T),UPSTREAM(MODIFIER||1240|||SEMA3B|retained_intron|NON_CODING|ENST00000454939||T),UPSTREAM(MODIFIER||1372|||SEMA3B|processed_transcript|NON_CODING|ENST00000418948||T),UPSTREAM(MODIFIER||1531|||SEMA3B|retained_intron|NON_CODING|ENST00000454314||T),UPSTREAM(MODIFIER||1551|||SEMA3B|processed_transcript|NON_CODING|ENST00000414456||T),UPSTREAM(MODIFIER||1580|||SEMA3B|processed_transcript|NON_CODING|ENST00000426144||T),UPSTREAM(MODIFIER||2926|||SEMA3B|retained_intron|NON_CODING|ENST00000441915||T),DOWNSTREAM(MODIFIER||4276|||U73166.2|lincRNA|NON_CODING|ENST00000439898||T),DOWNSTREAM(MODIFIER||4322|||U73166.2|lincRNA|NON_CODING|ENST00000426302||T),EXON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000419213|1|T),EXON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000316347|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 50310529 Sibling 53A C A . . Gene=SEMA3B;MT=SNP;MM=CM;CADD=18.66;VMM=42.34;EFF=MOTIF[MA0139.1:CTCF](MODIFIER||||||||||A),UPSTREAM(MODIFIER||248|||SEMA3B|retained_intron|NON_CODING|ENST00000419007||A),UPSTREAM(MODIFIER||21|||SEMA3B|processed_transcript|NON_CODING|ENST00000456560||A),UPSTREAM(MODIFIER||32|||SEMA3B|retained_intron|NON_CODING|ENST00000439487||A),UPSTREAM(MODIFIER||54|||SEMA3B|retained_intron|NON_CODING|ENST00000434030||A),UPSTREAM(MODIFIER||59|||SEMA3B|processed_transcript|NON_CODING|ENST00000456210||A),UPSTREAM(MODIFIER||62|||SEMA3B|processed_transcript|NON_CODING|ENST00000418576||A),UPSTREAM(MODIFIER||427|||SEMA3B|processed_transcript|NON_CODING|ENST00000433753||A),UPSTREAM(MODIFIER||1536|||SEMA3B|retained_intron|NON_CODING|ENST00000416295||A),DOWNSTREAM(MODIFIER||1640|||SEMA3B|processed_transcript|NON_CODING|ENST00000419213||A),INTRON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000316347|8|A),INTRON(MODIFIER|||||SEMA3B|retained_intron|NON_CODING|ENST00000454939|6|A),INTRON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000418948|6|A),INTRON(MODIFIER|||||SEMA3B|retained_intron|NON_CODING|ENST00000454314|5|A),INTRON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000414456|7|A),INTRON(MODIFIER|||||SEMA3B|processed_transcript|NON_CODING|ENST00000426144|6|A),INTRON(MODIFIER|||||SEMA3B|retained_intron|NON_CODING|ENST00000441915|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 15525430 Sibling 54A A G . . Gene=BMX;MT=SNP;MM=XL;CADD=17.46;VMM=0;EFF=UPSTREAM(MODIFIER||11||675|BMX|protein_coding|CODING|ENST00000342014||G),UPSTREAM(MODIFIER||7|||BMX|processed_transcript|CODING|ENST00000463891||G),INTRON(MODIFIER||||675|BMX|protein_coding|CODING|ENST00000357607|1|G),INTRON(MODIFIER||||675|BMX|protein_coding|CODING|ENST00000348343|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 137939661 Sibling 54A G A . . Gene=FGF13;MT=SNP;MM=XL;CADD=15.73;VMM=0;EFF=DOWNSTREAM(MODIFIER||13||42|FGF13|protein_coding|CODING|ENST00000421460||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||255|FGF13|protein_coding|CODING|ENST00000370603|2|A),INTRON(MODIFIER||||226|FGF13|protein_coding|CODING|ENST00000441825|1|A),INTRON(MODIFIER||||199|FGF13|protein_coding|CODING|ENST00000541469|1|A),INTRON(MODIFIER||||220|FGF13|protein_coding|CODING|ENST00000436198|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||205|FGF13|protein_coding|CODING|ENST00000455663|3|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||97|FGF13|protein_coding|CODING|ENST00000448673|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28785729 Sibling 54A GA G . . Gene=PHACTR4;MT=INDEL;MM=CM;CADD=27.6;VMM=65.62;EFF=FRAME_SHIFT(HIGH||aaa/|K61|712|PHACTR4|protein_coding|CODING|ENST00000373836|2|G),FRAME_SHIFT(HIGH||aaa/|K51|702|PHACTR4|protein_coding|CODING|ENST00000373839|3|G),EXON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000463428|3|G),EXON(MODIFIER|||||PHACTR4|processed_transcript|CODING|ENST00000493669|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 28826832 Sibling 54A C T . . Gene=PHACTR4;MT=SNP;MM=CM;CADD=18.92;VMM=65.62;EFF=UTR_3_PRIME(MODIFIER||3771||702|PHACTR4|protein_coding|CODING|ENST00000373839|14|T),DOWNSTREAM(MODIFIER||12||712|PHACTR4|protein_coding|CODING|ENST00000373836||T),DOWNSTREAM(MODIFIER||3164|||PHACTR4|processed_transcript|CODING|ENST00000493669||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24837780 Sibling 54A CGTT C . . Gene=NFATC4;MT=INDEL;MM=CM;CADD=9.454;VMM=31.55;EFF=UPSTREAM(MODIFIER||424||195|NFATC4|protein_coding|CODING|ENST00000557674||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||507||832|NFATC4|protein_coding|CODING|ENST00000553879||C),UPSTREAM(MODIFIER||578||832|NFATC4|protein_coding|CODING|ENST00000554344||C),UPSTREAM(MODIFIER||578||724|NFATC4|protein_coding|CODING|ENST00000554661||C),UPSTREAM(MODIFIER||578||782|NFATC4|protein_coding|CODING|ENST00000556169||C),UPSTREAM(MODIFIER||578||889|NFATC4|protein_coding|CODING|ENST00000422617||C),UPSTREAM(MODIFIER||578||831|NFATC4|protein_coding|CODING|ENST00000557451||C),UPSTREAM(MODIFIER||592||890|NFATC4|protein_coding|CODING|ENST00000555453||C),UPSTREAM(MODIFIER||670|||NFATC4|retained_intron|CODING|ENST00000556302||C),UPSTREAM(MODIFIER||4240||329|NFATC4|protein_coding|CODING|ENST00000554473||C),UPSTREAM(MODIFIER||4240||437|NFATC4|protein_coding|CODING|ENST00000556759||C),UPSTREAM(MODIFIER||4240||436|NFATC4|protein_coding|CODING|ENST00000555167||C),INTRON(MODIFIER||||964|NFATC4|protein_coding|CODING|ENST00000413692|2|C),INTRON(MODIFIER|||||NFATC4|processed_transcript|CODING|ENST00000440487|3|C),INTRON(MODIFIER||||857|NFATC4|protein_coding|CODING|ENST00000554591|2|C),INTRON(MODIFIER|||||NFATC4|retained_intron|CODING|ENST00000556957|2|C),INTRON(MODIFIER||||807|NFATC4|protein_coding|CODING|ENST00000554966|2|C),INTRON(MODIFIER||||915|NFATC4|protein_coding|CODING|ENST00000555590|2|C),INTRON(MODIFIER||||914|NFATC4|protein_coding|CODING|ENST00000424781|2|C),INTRON(MODIFIER||||933|NFATC4|protein_coding|CODING|ENST00000539237|2|C),INTRON(MODIFIER||||934|NFATC4|protein_coding|CODING|ENST00000556279|2|C),INTRON(MODIFIER||||826|NFATC4|protein_coding|CODING|ENST00000553469|2|C),INTRON(MODIFIER||||794|NFATC4|protein_coding|CODING|ENST00000554050|1|C),INTRON(MODIFIER|||||NFATC4|retained_intron|CODING|ENST00000554655|1|C),INTRON(MODIFIER||||142|NFATC4|protein_coding|CODING|ENST00000554903|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||138|NFATC4|protein_coding|CODING|ENST00000554779|1|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||NFATC4|retained_intron|CODING|ENST00000557028|1|C),INTRON(MODIFIER||||902|NFATC4|protein_coding|CODING|ENST00000250373|1|C),INTRON(MODIFIER||||901|NFATC4|protein_coding|CODING|ENST00000553708|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 24845863 Sibling 54A C T . . Gene=NFATC4;MT=SNP;MM=CM;CADD=33;VMM=31.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P870L|964|NFATC4|protein_coding|CODING|ENST00000413692|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P820L|915|NFATC4|protein_coding|CODING|ENST00000555590|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P820L|914|NFATC4|protein_coding|CODING|ENST00000424781|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P839L|933|NFATC4|protein_coding|CODING|ENST00000539237|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P839L|934|NFATC4|protein_coding|CODING|ENST00000556279|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P807L|902|NFATC4|protein_coding|CODING|ENST00000250373|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P807L|901|NFATC4|protein_coding|CODING|ENST00000553708|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P737L|832|NFATC4|protein_coding|CODING|ENST00000553879|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P737L|832|NFATC4|protein_coding|CODING|ENST00000554344|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P795L|889|NFATC4|protein_coding|CODING|ENST00000422617|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P737L|831|NFATC4|protein_coding|CODING|ENST00000557451|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P795L|890|NFATC4|protein_coding|CODING|ENST00000555453|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P342L|437|NFATC4|protein_coding|CODING|ENST00000556759|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P342L|436|NFATC4|protein_coding|CODING|ENST00000555167|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P95L|189|NFATC4|protein_coding|CODING|ENST00000555393|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P95L|190|NFATC4|protein_coding|CODING|ENST00000555802|4|T),DOWNSTREAM(MODIFIER||4841|||NFATC4|processed_transcript|CODING|ENST00000440487||T),DOWNSTREAM(MODIFIER||2512|||NFATC4|retained_intron|CODING|ENST00000556957||T),DOWNSTREAM(MODIFIER||4071||138|NFATC4|protein_coding|CODING|ENST00000554779||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1950|||NFATC4|retained_intron|CODING|ENST00000557028||T),DOWNSTREAM(MODIFIER||649|||NFATC4|retained_intron|CODING|ENST00000556302||T),INTRON(MODIFIER||||857|NFATC4|protein_coding|CODING|ENST00000554591|10|T),INTRON(MODIFIER||||807|NFATC4|protein_coding|CODING|ENST00000554966|10|T),INTRON(MODIFIER||||826|NFATC4|protein_coding|CODING|ENST00000553469|10|T),INTRON(MODIFIER||||794|NFATC4|protein_coding|CODING|ENST00000554050|9|T),INTRON(MODIFIER||||724|NFATC4|protein_coding|CODING|ENST00000554661|8|T),INTRON(MODIFIER||||782|NFATC4|protein_coding|CODING|ENST00000556169|9|T),INTRON(MODIFIER||||329|NFATC4|protein_coding|CODING|ENST00000554473|6|T),INTRON(MODIFIER||||82|NFATC4|protein_coding|CODING|ENST00000557767|4|T),INTRON(MODIFIER|||||NFATC4|processed_transcript|CODING|ENST00000555821|1|T),EXON(MODIFIER|||||NFATC4|retained_intron|CODING|ENST00000554655|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 74182677 Sibling 54A G A . . Gene=ELMSAN1;MT=SNP;MM=CM;CADD=18.59;VMM=46.55;EFF=UTR_3_PRIME(MODIFIER||3327||1045|ELMSAN1|protein_coding|CODING|ENST00000286523|12|A),UTR_3_PRIME(MODIFIER||3327||1045|ELMSAN1|protein_coding|CODING|ENST00000394071|12|A),UPSTREAM(MODIFIER||1549||353|PNMA1|protein_coding|CODING|ENST00000316836||A),DOWNSTREAM(MODIFIER||2933||1044|ELMSAN1|protein_coding|CODING|ENST00000423556||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3396|||ELMSAN1|retained_intron|CODING|ENST00000478847||A),DOWNSTREAM(MODIFIER||3408||445|ELMSAN1|nonsense_mediated_decay|CODING|ENST00000451078||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3409||1017|ELMSAN1|protein_coding|CODING|ENST00000435371||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ELMSAN1|retained_intron|CODING|ENST00000476562|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 74205693 Sibling 54A A G . . Gene=ELMSAN1;MT=SNP;MM=CM;CADD=21.1;VMM=46.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I340T|1045|ELMSAN1|protein_coding|CODING|ENST00000286523|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I340T|1045|ELMSAN1|protein_coding|CODING|ENST00000394071|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I340T|1044|ELMSAN1|protein_coding|CODING|ENST00000423556|1|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I162T|445|ELMSAN1|nonsense_mediated_decay|CODING|ENST00000451078|1|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I340T|1017|ELMSAN1|protein_coding|CODING|ENST00000435371|2|G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||822||64|ELMSAN1|protein_coding|CODING|ENST00000421708||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1041|||ELMSAN1|processed_transcript|CODING|ENST00000486739||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 83251164 Sibling 54A C G . . Gene=CDH13;MT=SNP;MM=CM;CADD=18.07;VMM=49.25;EFF=INTRON(MODIFIER||||760|CDH13|protein_coding|CODING|ENST00000268613|6|G),INTRON(MODIFIER||||713|CDH13|protein_coding|CODING|ENST00000566620|5|G),INTRON(MODIFIER||||674|CDH13|protein_coding|CODING|ENST00000428848|4|G),INTRON(MODIFIER||||52|CDH13|nonsense_mediated_decay|CODING|ENST00000539548|4|G),INTRON(MODIFIER|||||CDH13|processed_transcript|CODING|ENST00000569454|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 83704419 Sibling 54A G A . . Gene=CDH13;MT=SNP;MM=CM;CADD=22.8;VMM=49.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A423T|760|CDH13|protein_coding|CODING|ENST00000268613|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A376T|713|CDH13|protein_coding|CODING|ENST00000566620|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A337T|674|CDH13|protein_coding|CODING|ENST00000428848|8|A),UTR_3_PRIME(MODIFIER||545428||52|CDH13|nonsense_mediated_decay|CODING|ENST00000539548|8|A),EXON(MODIFIER|||||CDH13|processed_transcript|CODING|ENST00000562307|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 9929648 Sibling 54A T C . . Gene=GAS7;MT=SNP;MM=CM;CADD=19.25;VMM=33.34;EFF=UPSTREAM(MODIFIER||46||412|GAS7|protein_coding|CODING|ENST00000437099||C),UPSTREAM(MODIFIER||46||181|GAS7|protein_coding|CODING|ENST00000396115||C),INTRON(MODIFIER||||476|GAS7|protein_coding|CODING|ENST00000432992|1|C),INTRON(MODIFIER||||416|GAS7|protein_coding|CODING|ENST00000323816|2|C),INTRON(MODIFIER||||181|GAS7|protein_coding|CODING|ENST00000540214|1|C),INTRON(MODIFIER||||416|GAS7|protein_coding|CODING|ENST00000585266|1|C),INTRON(MODIFIER||||178|GAS7|protein_coding|CODING|ENST00000584146|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||GAS7|processed_transcript|CODING|ENST00000579140|1|C),INTRON(MODIFIER|||||GAS7|processed_transcript|CODING|ENST00000578655|1|C),INTRON(MODIFIER||||140|GAS7|protein_coding|CODING|ENST00000578599|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||127|GAS7|protein_coding|CODING|ENST00000584389|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||105|GAS7|protein_coding|CODING|ENST00000580043|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 9940309 Sibling 54A T TGGCCCC . . Gene=GAS7;MT=INDEL;MM=CM;CADD=15.37;VMM=33.34;EFF=UPSTREAM(MODIFIER||246||416|GAS7|protein_coding|CODING|ENST00000585266||TGGCCCC),UPSTREAM(MODIFIER||456||178|GAS7|protein_coding|CODING|ENST00000584146||TGGCCCC|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||292|||GAS7|processed_transcript|CODING|ENST00000579140||TGGCCCC),UPSTREAM(MODIFIER||331|||GAS7|processed_transcript|CODING|ENST00000578655||TGGCCCC),UPSTREAM(MODIFIER||326||105|GAS7|protein_coding|CODING|ENST00000580043||TGGCCCC|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||476|GAS7|protein_coding|CODING|ENST00000432992|1|TGGCCCC),INTRON(MODIFIER||||416|GAS7|protein_coding|CODING|ENST00000323816|2|TGGCCCC),INTRON(MODIFIER||||181|GAS7|protein_coding|CODING|ENST00000540214|1|TGGCCCC),INTRON(MODIFIER||||140|GAS7|protein_coding|CODING|ENST00000578599|1|TGGCCCC|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||127|GAS7|protein_coding|CODING|ENST00000584389|1|TGGCCCC|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 58453466 Sibling 54A C A . . Gene=ZNF256;MT=SNP;MM=CM;CADD=23.6;VMM=68.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aTa|R237I|627|ZNF256|protein_coding|CODING|ENST00000282308|3|A),UTR_3_PRIME(MODIFIER||412||56|ZNF256|protein_coding|CODING|ENST00000598928|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 58453793 Sibling 54A TG T . . Gene=ZNF256;MT=INDEL;MM=CM;CADD=22.8;VMM=68.96;EFF=FRAME_SHIFT(HIGH||caa/|Q128|627|ZNF256|protein_coding|CODING|ENST00000282308|3|T),UTR_3_PRIME(MODIFIER||84||56|ZNF256|protein_coding|CODING|ENST00000598928|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 18943892 Sibling 55A C T . . Gene=PHKA2;MT=SNP;MM=XL;CADD=22;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R488Q|1235|PHKA2|protein_coding|CODING|ENST00000379942|15|T),EXON(MODIFIER|||||PHKA2|processed_transcript|CODING|ENST00000464455|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 5960349 Sibling 55A G A . . Gene=FBXO18;MT=SNP;MM=CM;CADD=32;VMM=53.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V721I|1094|FBXO18|protein_coding|CODING|ENST00000379999|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V157I|547|FBXO18|protein_coding|CODING|ENST00000397269|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|V670I|1043|FBXO18|protein_coding|CODING|ENST00000362091|13|A),UPSTREAM(MODIFIER||2960|||FBXO18|processed_transcript|CODING|ENST00000475867||A),UPSTREAM(MODIFIER||2968|||FBXO18|processed_transcript|CODING|ENST00000461504||A),DOWNSTREAM(MODIFIER||2442|||FBXO18|processed_transcript|CODING|ENST00000460453||A),DOWNSTREAM(MODIFIER||765|||FBXO18|processed_transcript|CODING|ENST00000489042||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 5965422 Sibling 55A C T . . Gene=FBXO18;MT=SNP;MM=CM;CADD=14.29;VMM=53.34;EFF=UPSTREAM(MODIFIER||112|||FBXO18|processed_transcript|CODING|ENST00000485290||T),UPSTREAM(MODIFIER||1805|||FBXO18|processed_transcript|CODING|ENST00000496013||T),UPSTREAM(MODIFIER||1952|||FBXO18|processed_transcript|CODING|ENST00000479433||T),UPSTREAM(MODIFIER||1952|||FBXO18|processed_transcript|CODING|ENST00000470353||T),INTRON(MODIFIER||||1094|FBXO18|protein_coding|CODING|ENST00000379999|16|T),INTRON(MODIFIER||||547|FBXO18|protein_coding|CODING|ENST00000397269|15|T),INTRON(MODIFIER||||1043|FBXO18|protein_coding|CODING|ENST00000362091|15|T),INTRON(MODIFIER|||||FBXO18|processed_transcript|CODING|ENST00000475867|2|T),INTRON(MODIFIER|||||FBXO18|processed_transcript|CODING|ENST00000461504|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 126655400 Sibling 55A T A . . Gene=ZRANB1;MT=SNP;MM=CM;CADD=17.83;VMM=38.55;EFF=INTRON(MODIFIER||||708|ZRANB1|protein_coding|CODING|ENST00000359653|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 126673928 Sibling 55A C T . . Gene=ZRANB1;MT=SNP;MM=CM;CADD=18.75;VMM=38.55;EFF=UTR_3_PRIME(MODIFIER||367||708|ZRANB1|protein_coding|CODING|ENST00000359653|9|T),DOWNSTREAM(MODIFIER||3579||985|CTBP2|protein_coding|CODING|ENST00000309035||T),DOWNSTREAM(MODIFIER||1863|||ZRANB1|processed_transcript|CODING|ENST00000471421||T),DOWNSTREAM(MODIFIER||2493||445|CTBP2|protein_coding|CODING|ENST00000337195||T),DOWNSTREAM(MODIFIER||3776||513|CTBP2|protein_coding|CODING|ENST00000334808||T),DOWNSTREAM(MODIFIER||3866||445|CTBP2|protein_coding|CODING|ENST00000531469||T),DOWNSTREAM(MODIFIER||3866||445|CTBP2|protein_coding|CODING|ENST00000494626||T),DOWNSTREAM(MODIFIER||3866||445|CTBP2|protein_coding|CODING|ENST00000411419||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 108686549 Sibling 55A A G . . Gene=CMKLR1;MT=SNP;MM=CM;CADD=25.5;VMM=92.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I64T|373|CMKLR1|protein_coding|CODING|ENST00000312143|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I64T|373|CMKLR1|protein_coding|CODING|ENST00000412676|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I62T|371|CMKLR1|protein_coding|CODING|ENST00000397688|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I62T|371|CMKLR1|protein_coding|CODING|ENST00000552995|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I64T|373|CMKLR1|protein_coding|CODING|ENST00000550402|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I64T|146|CMKLR1|protein_coding|CODING|ENST00000550573|3|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I64T|142|CMKLR1|protein_coding|CODING|ENST00000549466|3|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 108686555 Sibling 55A A C . . Gene=CMKLR1;MT=SNP;MM=CM;CADD=26.5;VMM=92.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I62S|373|CMKLR1|protein_coding|CODING|ENST00000312143|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I62S|373|CMKLR1|protein_coding|CODING|ENST00000412676|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I60S|371|CMKLR1|protein_coding|CODING|ENST00000397688|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I60S|371|CMKLR1|protein_coding|CODING|ENST00000552995|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I62S|373|CMKLR1|protein_coding|CODING|ENST00000550402|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I62S|146|CMKLR1|protein_coding|CODING|ENST00000550573|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I62S|142|CMKLR1|protein_coding|CODING|ENST00000549466|3|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 23524460 Sibling 55A G A . . Gene=PRDM9;MT=SNP;MM=CM;CADD=24.1;VMM=72.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R323Q|894|PRDM9|protein_coding|CODING|ENST00000296682|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 23527335 Sibling 55A C G . . Gene=PRDM9;MT=SNP;MM=CM;CADD=23.2;VMM=72.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T713R|894|PRDM9|protein_coding|CODING|ENST00000296682|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 84771613 Sibling 56A TC T . . Gene=EFTUD1P1;MT=INDEL;MM=DN;CADD=16.52;VMM=0;EFF=INTRON(MODIFIER|||||EFTUD1P1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000560401|5|T),INTRON(MODIFIER|||||EFTUD1P1|processed_transcript|NON_CODING|ENST00000558187|5|T),INTRON(MODIFIER|||||EFTUD1P1|processed_transcript|NON_CODING|ENST00000558550|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 20970576 Sibling 56A G T . . Gene=DNAH3;MT=SNP;MM=CM;CADD=32;VMM=72.49;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A3584D|4116|DNAH3|protein_coding|CODING|ENST00000261383|54|T),UTR_3_PRIME(MODIFIER||60598||1887|DNAH3|protein_coding|CODING|ENST00000415178|53|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 21139137 Sibling 56A C A . . Gene=DNAH3;MT=SNP;MM=CM;CADD=17.87;VMM=72.49;EFF=SPLICE_SITE_REGION+INTRON(LOW||||4116|DNAH3|protein_coding|CODING|ENST00000261383|7|A),SPLICE_SITE_REGION+INTRON(LOW||||1887|DNAH3|protein_coding|CODING|ENST00000415178|7|A),SPLICE_SITE_REGION+INTRON(LOW|||||DNAH3|retained_intron|CODING|ENST00000396036|8|A),INTRON(MODIFIER|||||CTC-508F8.1|antisense|NON_CODING|ENST00000575612|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 27212856 Sibling 56A C T . . Gene=TEK;MT=SNP;MM=CM;CADD=20.2;VMM=39.72;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A946|1124|TEK|protein_coding|CODING|ENST00000380036|17|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A798|976|TEK|protein_coding|CODING|ENST00000519097|15|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A903|1081|TEK|protein_coding|CODING|ENST00000406359|16|T),DOWNSTREAM(MODIFIER||2232|||RP11-179D22.1|processed_pseudogene|NON_CODING|ENST00000422804||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 27220155 Sibling 56A C G . . Gene=TEK;MT=SNP;MM=CM;CADD=17.01;VMM=39.72;EFF=INTRON(MODIFIER||||1124|TEK|protein_coding|CODING|ENST00000380036|21|G),INTRON(MODIFIER||||976|TEK|protein_coding|CODING|ENST00000519097|19|G),INTRON(MODIFIER||||1081|TEK|protein_coding|CODING|ENST00000406359|20|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 130116658 Sibling 56A C G . . Gene=GARNL3;MT=SNP;MM=CM;CADD=19.62;VMM=38.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D576E|1013|GARNL3|protein_coding|CODING|ENST00000373387|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D554E|991|GARNL3|protein_coding|CODING|ENST00000435213|20|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D576E|820|GARNL3|protein_coding|CODING|ENST00000314904|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D558E|802|GARNL3|nonsense_mediated_decay|CODING|ENST00000373386|19|G),UTR_3_PRIME(MODIFIER||489||80|GARNL3|nonsense_mediated_decay|CODING|ENST00000460176|5|G),UPSTREAM(MODIFIER||929|||GARNL3|processed_transcript|CODING|ENST00000478696||G),UPSTREAM(MODIFIER||977|||GARNL3|processed_transcript|CODING|ENST00000496711||G),EXON(MODIFIER|||||GARNL3|retained_intron|CODING|ENST00000481875|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 130149409 Sibling 56A G C . . Gene=GARNL3;MT=SNP;MM=CM;CADD=16.97;VMM=38.31;EFF=UPSTREAM(MODIFIER||1282|||GARNL3|retained_intron|CODING|ENST00000463005||C),INTRON(MODIFIER||||1013|GARNL3|protein_coding|CODING|ENST00000373387|24|C),INTRON(MODIFIER||||991|GARNL3|protein_coding|CODING|ENST00000435213|25|C),INTRON(MODIFIER||||820|GARNL3|protein_coding|CODING|ENST00000314904|24|C),INTRON(MODIFIER||||802|GARNL3|nonsense_mediated_decay|CODING|ENST00000373386|24|C),INTRON(MODIFIER|||||GARNL3|processed_transcript|CODING|ENST00000496711|8|C),INTRON(MODIFIER|||||GARNL3|retained_intron|CODING|ENST00000481242|3|C),EXON(MODIFIER|||||GARNL3|retained_intron|CODING|ENST00000497703|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 92928586 Sibling 57A G A . . Gene=NAP1L3;MT=SNP;MM=XL;CADD=15.61;VMM=0;EFF=UPSTREAM(MODIFIER||19||506|NAP1L3|protein_coding|CODING|ENST00000373079||A),UPSTREAM(MODIFIER||426||248|FAM133A|protein_coding|CODING|ENST00000322139||A),UPSTREAM(MODIFIER||19||499|NAP1L3|protein_coding|CODING|ENST00000475430||A),UPSTREAM(MODIFIER||426||248|FAM133A|protein_coding|CODING|ENST00000355813||A),UPSTREAM(MODIFIER||426||248|FAM133A|protein_coding|CODING|ENST00000538690||A),UPSTREAM(MODIFIER||619||248|FAM133A|protein_coding|CODING|ENST00000332647||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 204412588 Sibling 57A T C . . Gene=PIK3C2B;MT=SNP;MM=CM;CADD=12.28;VMM=30.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K1002R|1634|PIK3C2B|protein_coding|CODING|ENST00000367187|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|K974R|1606|PIK3C2B|protein_coding|CODING|ENST00000424712|21|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 204438236 Sibling 57A T C . . Gene=PIK3C2B;MT=SNP;MM=CM;CADD=22.7;VMM=30.39;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N232S|1634|PIK3C2B|protein_coding|CODING|ENST00000367187|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N232S|1606|PIK3C2B|protein_coding|CODING|ENST00000424712|3|C),UPSTREAM(MODIFIER||1762||172|PIK3C2B|protein_coding|CODING|ENST00000367184||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||302||130|PIK3C2B|protein_coding|CODING|ENST00000415899||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||514||59|PIK3C2B|protein_coding|CODING|ENST00000429009||C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 220379361 Sibling 57A TA T . . Gene=RAB3GAP2;MT=INDEL;MM=CM;CADD=18.03;VMM=39.45;EFF=UPSTREAM(MODIFIER||1598|||RP11-568G11.4|processed_pseudogene|NON_CODING|ENST00000604232||T),INTRON(MODIFIER||||1393|RAB3GAP2|protein_coding|CODING|ENST00000358951|7|T),INTRON(MODIFIER|||||RAB3GAP2|processed_transcript|CODING|ENST00000478976|2|T),INTRON(MODIFIER|||||RAB3GAP2|retained_intron|CODING|ENST00000237724|4|T),INTRON(MODIFIER||||170|RAB3GAP2|protein_coding|CODING|ENST00000484658|4|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||82|RAB3GAP2|nonsense_mediated_decay|CODING|ENST00000474178|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 220445735 Sibling 57A C A . . Gene=RAB3GAP2;MT=SNP;MM=CM;CADD=18.91;VMM=39.45;EFF=UTR_5_PRIME(MODIFIER||56||1393|RAB3GAP2|protein_coding|CODING|ENST00000358951|1|A),UPSTREAM(MODIFIER||4476|||AURKAPS1|transcribed_processed_pseudogene|NON_CODING|ENST00000451805||A),UPSTREAM(MODIFIER||23||82|RAB3GAP2|nonsense_mediated_decay|CODING|ENST00000474178||A),UPSTREAM(MODIFIER||56|||RAB3GAP2|processed_transcript|CODING|ENST00000475769||A),UPSTREAM(MODIFIER||32|||RAB3GAP2|processed_transcript|CODING|ENST00000462353||A),EXON(MODIFIER|||||RAB3GAP2|processed_transcript|CODING|ENST00000478976|1|A),EXON(MODIFIER|||||RAB3GAP2|retained_intron|CODING|ENST00000237724|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49377057 Sibling 57A C T . . Gene=PPP1R15A;MT=SNP;MM=CM;CADD=11.68;VMM=31.02;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A189|674|PPP1R15A|protein_coding|CODING|ENST00000200453|2|T),UPSTREAM(MODIFIER||518||257|PPP1R15A|protein_coding|CODING|ENST00000600406||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 49377281 Sibling 57A C T . . Gene=PPP1R15A;MT=SNP;MM=CM;CADD=24.6;VMM=31.02;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCa/tTa|S264L|674|PPP1R15A|protein_coding|CODING|ENST00000200453|2|T),UPSTREAM(MODIFIER||294||257|PPP1R15A|protein_coding|CODING|ENST00000600406||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 60133024 Sibling 58A G A . . Gene=FGGY;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G480R|575|FGGY|protein_coding|CODING|ENST00000371218|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G456R|551|FGGY|protein_coding|CODING|ENST00000303721|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G456R|507|FGGY|nonsense_mediated_decay|CODING|ENST00000430447|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G368R|463|FGGY|protein_coding|CODING|ENST00000371212|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G157R|252|FGGY|protein_coding|CODING|ENST00000371210|7|A),INTRON(MODIFIER|||||FGGY|processed_transcript|CODING|ENST00000476939|1|A),EXON(MODIFIER|||||FGGY|processed_transcript|CODING|ENST00000493891|4|A),EXON(MODIFIER|||||FGGY|processed_transcript|CODING|ENST00000466791|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 70188667 Sibling 58A G A . . Gene=ASPRV1;MT=SNP;MM=DN;CADD=23.8;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R52*|343|ASPRV1|protein_coding|CODING|ENST00000320256|1|A),DOWNSTREAM(MODIFIER||728|||PCBP1-AS1|antisense|NON_CODING|ENST00000435880||A),DOWNSTREAM(MODIFIER||1235|||PCBP1-AS1|antisense|NON_CODING|ENST00000419542||A),DOWNSTREAM(MODIFIER||1719|||PCBP1-AS1|antisense|NON_CODING|ENST00000596259||A),DOWNSTREAM(MODIFIER||1853|||PCBP1-AS1|antisense|NON_CODING|ENST00000457076||A),DOWNSTREAM(MODIFIER||1928|||PCBP1-AS1|antisense|NON_CODING|ENST00000413436||A),DOWNSTREAM(MODIFIER||1953|||PCBP1-AS1|antisense|NON_CODING|ENST00000418564||A),DOWNSTREAM(MODIFIER||2838|||PCBP1-AS1|antisense|NON_CODING|ENST00000415222||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ibling 58A C T . . Gene=ACAP3;MT=SNP;MM=CM;CADD=27.7;VMM=93.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E149K|834|ACAP3|protein_coding|CODING|ENST00000354700|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E107K|759|ACAP3|protein_coding|CODING|ENST00000353662|6|T),UTR_3_PRIME(MODIFIER||2689||52|ACAP3|nonsense_mediated_decay|CODING|ENST00000354980|7|T),UPSTREAM(MODIFIER||1631|||ACAP3|retained_intron|CODING|ENST00000467278||T),UPSTREAM(MODIFIER||2321|||ACAP3|processed_transcript|CODING|ENST00000379037||T),UPSTREAM(MODIFIER||969|||ACAP3|retained_intron|CODING|ENST00000476572||T),UPSTREAM(MODIFIER||2345|||ACAP3|retained_intron|CODING|ENST00000493992||T),DOWNSTREAM(MODIFIER||862|||ACAP3|retained_intron|CODING|ENST00000478065||T),DOWNSTREAM(MODIFIER||1270|||ACAP3|retained_intron|CODING|ENST00000479108||T),DOWNSTREAM(MODIFIER||2624|||ACAP3|processed_transcript|CODING|ENST00000438966||T),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000492936|5|T),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000472541|6|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ibling 58A C T . . Gene=ACAP3;MT=SNP;MM=CM;CADD=24.6;VMM=93.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V26M|834|ACAP3|protein_coding|CODING|ENST00000354700|2|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T41|52|ACAP3|nonsense_mediated_decay|CODING|ENST00000354980|3|T),START_GAINED(LOW||||759|ACAP3|protein_coding|CODING|ENST00000353662|2|T),UTR_5_PRIME(MODIFIER||855||759|ACAP3|protein_coding|CODING|ENST00000353662|2|T),UPSTREAM(MODIFIER||4452||303|PUSL1|protein_coding|CODING|ENST00000379031||T),UPSTREAM(MODIFIER||4498|||ACAP3|retained_intron|CODING|ENST00000476572||T),UPSTREAM(MODIFIER||4496|||PUSL1|processed_transcript|CODING|ENST00000470520||T),UPSTREAM(MODIFIER||4673|||PUSL1|retained_intron|CODING|ENST00000463758||T),UPSTREAM(MODIFIER||4706||124|PUSL1|protein_coding|CODING|ENST00000467712||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000492936|1|T),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000472541|2|T),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000478065|1|T),EXON(MODIFIER|||||ACAP3|retained_intron|CODING|ENST00000479108|2|T),EXON(MODIFIER|||||ACAP3|processed_transcript|CODING|ENST00000438966|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205031673 Sibling 58A G A . . Gene=CNTN2;MT=SNP;MM=CM;CADD=23.3;VMM=47.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A406T|1040|CNTN2|protein_coding|CODING|ENST00000331830|10|A),UPSTREAM(MODIFIER||2679|||CNTN2|retained_intron|CODING|ENST00000530594||A),DOWNSTREAM(MODIFIER||203|||AL583832.1|miRNA|NON_CODING|ENST00000515887||A),DOWNSTREAM(MODIFIER||4131|||CNTN2|retained_intron|CODING|ENST00000532366||A),DOWNSTREAM(MODIFIER||210|||CNTN2|retained_intron|CODING|ENST00000530117||A),EXON(MODIFIER|||||CNTN2|retained_intron|CODING|ENST00000481872|5|A),EXON(MODIFIER|||||CNTN2|retained_intron|CODING|ENST00000527340|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 205034985 Sibling 58A G A . . Gene=CNTN2;MT=SNP;MM=CM;CADD=17.07;VMM=47.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M588I|1040|CNTN2|protein_coding|CODING|ENST00000331830|14|A),DOWNSTREAM(MODIFIER||3515|||AL583832.1|miRNA|NON_CODING|ENST00000515887||A),DOWNSTREAM(MODIFIER||3522|||CNTN2|retained_intron|CODING|ENST00000530117||A),DOWNSTREAM(MODIFIER||1129|||CNTN2|retained_intron|CODING|ENST00000527340||A),EXON(MODIFIER|||||CNTN2|retained_intron|CODING|ENST00000481872|9|A),EXON(MODIFIER|||||CNTN2|retained_intron|CODING|ENST00000530594|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 63084679 Sibling 58A TCAAC T . . Gene=TLN2;MT=INDEL;MM=CM;CADD=17.6;VMM=40.3;EFF=INTRON(MODIFIER||||2542|TLN2|protein_coding|CODING|ENST00000306829|42|T),INTRON(MODIFIER||||2542|TLN2|protein_coding|CODING|ENST00000561311|44|T),INTRON(MODIFIER||||1471|TLN2|protein_coding|CODING|ENST00000494733|18|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||TLN2|retained_intron|CODING|ENST00000489129|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 63128320 Sibling 58A A C . . Gene=TLN2;MT=SNP;MM=CM;CADD=19.74;VMM=40.3;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1471|TLN2|protein_coding|CODING|ENST00000494733|30|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||724|||RP11-1069G10.1|antisense|NON_CODING|ENST00000558888||C),INTRON(MODIFIER||||2542|TLN2|protein_coding|CODING|ENST00000306829|54|C),INTRON(MODIFIER||||2542|TLN2|protein_coding|CODING|ENST00000561311|56|C),INTRON(MODIFIER|||||TLN2|retained_intron|CODING|ENST00000489129|25|C),INTRON(MODIFIER|||||RP11-1069G10.1|antisense|NON_CODING|ENST00000558404|2|C),INTRON(MODIFIER|||||TLN2|retained_intron|CODING|ENST00000559174|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 28934274 Sibling 58A C T . . Gene=DSG1;MT=SNP;MM=CM;CADD=23.2;VMM=69.76;EFF=SPLICE_SITE_DONOR+INTRON(HIGH|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581856|2|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||RP11-534N16.1|antisense|NON_CODING|ENST00000578477|3|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581452|3|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y705|1049|DSG1|protein_coding|CODING|ENST00000257192|15|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y64|408|DSG1|protein_coding|CODING|ENST00000462981|4|T),UPSTREAM(MODIFIER||375|||RP11-534N16.1|antisense|NON_CODING|ENST00000578119||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 28935292 Sibling 58A G A . . Gene=DSG1;MT=SNP;MM=CM;CADD=23.4;VMM=69.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1045M|1049|DSG1|protein_coding|CODING|ENST00000257192|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V404M|408|DSG1|protein_coding|CODING|ENST00000462981|4|A),UPSTREAM(MODIFIER||1393|||RP11-534N16.1|antisense|NON_CODING|ENST00000578119||A),INTRON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581856|1|A),INTRON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000578477|2|A),INTRON(MODIFIER|||||RP11-534N16.1|antisense|NON_CODING|ENST00000581452|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 51637536 Sibling 58A G T . . Gene=PKHD1;MT=SNP;MM=CM;CADD=29.6;VMM=42.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T2869K|4074|PKHD1|protein_coding|CODING|ENST00000371117|55|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aAa|T2869K|3396|PKHD1|protein_coding|CODING|ENST00000340994|55|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 51774206 Sibling 58A C G . . Gene=PKHD1;MT=SNP;MM=CM;CADD=12.95;VMM=42.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R2186T|4074|PKHD1|protein_coding|CODING|ENST00000371117|40|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGa/aCa|R2186T|3396|PKHD1|protein_coding|CODING|ENST00000340994|40|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 75468982 Sibling 58A C T . . Gene=DQ584669;MT=SNP;MM=CNC;CADD=3.827;VMM=0;EFF=DOWNSTREAM(MODIFIER||1735|||FAM86DP|processed_transcript|NON_CODING|ENST00000459803||T),DOWNSTREAM(MODIFIER||1721|||FAM86DP|processed_transcript|NON_CODING|ENST00000497543||T),DOWNSTREAM(MODIFIER||1729|||FAM86DP|processed_transcript|NON_CODING|ENST00000484945||T),DOWNSTREAM(MODIFIER||2588|||FAM86DP|processed_transcript|NON_CODING|ENST00000478666||T),DOWNSTREAM(MODIFIER||2887|||FAM86DP|processed_transcript|NON_CODING|ENST00000489609||T),DOWNSTREAM(MODIFIER||3130|||FAM86DP|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000477247||T),EXON(MODIFIER|||||ALG1L6P|unprocessed_pseudogene|NON_CODING|ENST00000515248|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 75469020 Sibling 58A C G . . Gene=DQ584669;MT=SNP;MM=CNC;CADD=9.089;VMM=0;EFF=DOWNSTREAM(MODIFIER||1697|||FAM86DP|processed_transcript|NON_CODING|ENST00000459803||G),DOWNSTREAM(MODIFIER||1683|||FAM86DP|processed_transcript|NON_CODING|ENST00000497543||G),DOWNSTREAM(MODIFIER||1691|||FAM86DP|processed_transcript|NON_CODING|ENST00000484945||G),DOWNSTREAM(MODIFIER||2550|||FAM86DP|processed_transcript|NON_CODING|ENST00000478666||G),DOWNSTREAM(MODIFIER||2849|||FAM86DP|processed_transcript|NON_CODING|ENST00000489609||G),DOWNSTREAM(MODIFIER||3092|||FAM86DP|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000477247||G),EXON(MODIFIER|||||ALG1L6P|unprocessed_pseudogene|NON_CODING|ENST00000515248|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 31477251 Sibling 59A G A . . Gene=ARMC5;MT=SNP;MM=DN;CADD=27.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G744R|1030|ARMC5|protein_coding|CODING|ENST00000408912|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G649R|935|ARMC5|protein_coding|CODING|ENST00000563544|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G681R|967|ARMC5|protein_coding|CODING|ENST00000538189|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G649R|935|ARMC5|protein_coding|CODING|ENST00000268314|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G293R|579|ARMC5|protein_coding|CODING|ENST00000412665|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G311R|597|ARMC5|protein_coding|CODING|ENST00000564900|6|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||729||725|ARMC5|protein_coding|CODING|ENST00000457010|4|A),DOWNSTREAM(MODIFIER||3607||9|ARMC5|nonsense_mediated_decay|CODING|ENST00000564514||A),EXON(MODIFIER|||||ARMC5|retained_intron|CODING|ENST00000570119|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 39926493 Sibling 59A G T . . Gene=RPS16;MT=SNP;MM=DN;CADD=26.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R15S|152|RPS16|protein_coding|CODING|ENST00000339471|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R15S|100|RPS16|protein_coding|CODING|ENST00000599539|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R15S|146|RPS16|protein_coding|CODING|ENST00000251453|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R15S|129|RPS16|protein_coding|CODING|ENST00000601655|1|T),UPSTREAM(MODIFIER||3719||155|AC011500.1|protein_coding|CODING|ENST00000396843||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2092||50|RPS16|protein_coding|CODING|ENST00000602153||T),UPSTREAM(MODIFIER||1463|||RPS16|retained_intron|CODING|ENST00000595386||T),UPSTREAM(MODIFIER||148||85|RPS16|protein_coding|CODING|ENST00000599705||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||303||53|SUPT5H|protein_coding|CODING|ENST00000594990||T|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||RPS16|retained_intron|CODING|ENST00000601390|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 159520386 Sibling 59A T A . . Gene=PWWP2A;MT=SNP;MM=DN;CADD=26.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D424V|755|PWWP2A|protein_coding|CODING|ENST00000307063|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D424V|560|PWWP2A|protein_coding|CODING|ENST00000456329|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D424V|520|PWWP2A|protein_coding|CODING|ENST00000523662|2|A),UPSTREAM(MODIFIER||199||34|PWWP2A|nonsense_mediated_decay|CODING|ENST00000524050||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||95||69|PWWP2A|nonsense_mediated_decay|CODING|ENST00000521424||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||379||49|PWWP2A|nonsense_mediated_decay|CODING|ENST00000520662||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 17745650 Sibling 59A A T . . Gene=NHS;MT=SNP;MM=XL;CADD=23.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Tac|N1121Y|1630|NHS|protein_coding|CODING|ENST00000380060|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Tac|N965Y|1474|NHS|protein_coding|CODING|ENST00000398097|7|T),DOWNSTREAM(MODIFIER||3160|||NHS|processed_transcript|CODING|ENST00000485305||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 150779970 Sibling 59A G A . . Gene=PASD1;MT=SNP;MM=XL;CADD=21.5;VMM=0;EFF=UPSTREAM(MODIFIER||166|||RP11-45D17.1|unprocessed_pseudogene|NON_CODING|ENST00000413236||A),INTRON(MODIFIER||||773|PASD1|protein_coding|CODING|ENST00000370357|3|A),INTRON(MODIFIER|||||PASD1|retained_intron|CODING|ENST00000464219|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153037686 Sibling 59A C T . . Gene=PLXNB3;MT=SNP;MM=XL;CADD=26.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R930W|1932|PLXNB3|protein_coding|CODING|ENST00000538966|17|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R907W|1909|PLXNB3|protein_coding|CODING|ENST00000361971|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R560W|1562|PLXNB3|protein_coding|CODING|ENST00000538776|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R517W|988|PLXNB3|protein_coding|CODING|ENST00000538282|13|T),UPSTREAM(MODIFIER||4181||634|SRPK3|protein_coding|CODING|ENST00000489426||T),UPSTREAM(MODIFIER||2528||256|PLXNB3|protein_coding|CODING|ENST00000411613||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2698|||PLXNB3|processed_transcript|CODING|ENST00000482654||T),UPSTREAM(MODIFIER||3745||161|PLXNB3|protein_coding|CODING|ENST00000455214||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||168||224|PLXNB3|protein_coding|CODING|ENST00000538543||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118343472 Sibling 59A T G . . Gene=KMT2A;MT=SNP;MM=CM;CADD=9.787;VMM=34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V533G|3972|KMT2A|protein_coding|CODING|ENST00000534358|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V566G|1438|KMT2A|protein_coding|CODING|ENST00000531904|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V533G|3969|KMT2A|protein_coding|CODING|ENST00000389506|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gGg|V533G|3931|KMT2A|protein_coding|CODING|ENST00000354520|3|G),INTRON(MODIFIER||||159|KMT2A|protein_coding|CODING|ENST00000527869|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||267|KMT2A|protein_coding|CODING|ENST00000533790|2|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118370594 Sibling 59A G A . . Gene=KMT2A;MT=SNP;MM=CM;CADD=34;VMM=34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2042N|3972|KMT2A|protein_coding|CODING|ENST00000534358|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2039N|3969|KMT2A|protein_coding|CODING|ENST00000389506|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D2001N|3931|KMT2A|protein_coding|CODING|ENST00000354520|23|A),UPSTREAM(MODIFIER||823|||KMT2A|retained_intron|CODING|ENST00000528278||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 31576712 Sibling 59A G A . . Gene=DENND5B;MT=SNP;MM=CM;CADD=10.97;VMM=38.5;EFF=DOWNSTREAM(MODIFIER||791|||DENND5B|retained_intron|CODING|ENST00000537061||A),INTRON(MODIFIER||||1309|DENND5B|protein_coding|CODING|ENST00000306833|11|A),INTRON(MODIFIER||||1274|DENND5B|protein_coding|CODING|ENST00000389082|10|A),INTRON(MODIFIER||||1309|DENND5B|protein_coding|CODING|ENST00000536562|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 31595827 Sibling 59A C T . . Gene=DENND5B;MT=SNP;MM=CM;CADD=33;VMM=38.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D667N|1309|DENND5B|protein_coding|CODING|ENST00000306833|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D632N|1274|DENND5B|protein_coding|CODING|ENST00000389082|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D667N|1309|DENND5B|protein_coding|CODING|ENST00000536562|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D654N|738|DENND5B|protein_coding|CODING|ENST00000354285|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 52523908 Sibling 59A G A . . Gene=ATP7B;MT=SNP;MM=CM;CADD=35;VMM=71.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R919W|1465|ATP7B|protein_coding|CODING|ENST00000242839|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R808W|1354|ATP7B|protein_coding|CODING|ENST00000400366|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R191W|676|ATP7B|protein_coding|CODING|ENST00000417240|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R489W|1035|ATP7B|protein_coding|CODING|ENST00000400370|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R841W|1387|ATP7B|protein_coding|CODING|ENST00000448424|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R919W|1400|ATP7B|protein_coding|CODING|ENST00000418097|12|A),UPSTREAM(MODIFIER||3209|||ATP7B|processed_transcript|CODING|ENST00000466629||A),INTRON(MODIFIER||||1258|ATP7B|protein_coding|CODING|ENST00000344297|8|A),INTRON(MODIFIER|||||ATP7B|processed_transcript|CODING|ENST00000482841|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 52535986 Sibling 59A T A . . Gene=ATP7B;MT=SNP;MM=CM;CADD=16.33;VMM=71.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Ttg|M645L|1465|ATP7B|protein_coding|CODING|ENST00000242839|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Ttg|M534L|1354|ATP7B|protein_coding|CODING|ENST00000400366|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Ttg|M645L|1387|ATP7B|protein_coding|CODING|ENST00000448424|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Ttg|M645L|1400|ATP7B|protein_coding|CODING|ENST00000418097|6|A),START_GAINED(LOW||||676|ATP7B|protein_coding|CODING|ENST00000417240|1|A),UTR_5_PRIME(MODIFIER||3369||676|ATP7B|protein_coding|CODING|ENST00000417240|1|A),UPSTREAM(MODIFIER||4892|||FABP5P2|processed_pseudogene|NON_CODING|ENST00000439042||A),DOWNSTREAM(MODIFIER||2924|||ATP7B|processed_transcript|CODING|ENST00000483772||A),INTRON(MODIFIER||||1258|ATP7B|protein_coding|CODING|ENST00000344297|5|A),INTRON(MODIFIER||||1035|ATP7B|protein_coding|CODING|ENST00000400370|2|A),INTRON(MODIFIER|||||ATP7B|processed_transcript|CODING|ENST00000482841|4|A),INTRON(MODIFIER||||528|ATP7B|protein_coding|CODING|ENST00000542656|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 45579256 Sibling 59A C T . . Gene=PRPF39;MT=SNP;MM=CM;CADD=15.88;VMM=40.88;EFF=UPSTREAM(MODIFIER||830|||SNORD127|snoRNA|NON_CODING|ENST00000458892||T),INTRON(MODIFIER||||669|PRPF39|protein_coding|CODING|ENST00000355765|8|T),INTRON(MODIFIER|||||PRPF39|retained_intron|CODING|ENST00000477626|7|T),INTRON(MODIFIER||||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000424478|9|T),INTRON(MODIFIER||||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000554439|9|T),INTRON(MODIFIER||||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000554429|10|T),INTRON(MODIFIER||||16|PRPF39|nonsense_mediated_decay|CODING|ENST00000554081|8|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||89|PRPF39|nonsense_mediated_decay|CODING|ENST00000557477|5|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||PRPF39|retained_intron|CODING|ENST00000556718|1|T),EXON(MODIFIER|||||PRPF39|retained_intron|CODING|ENST00000554785|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 45583767 Sibling 59A G A . . Gene=PRPF39;MT=SNP;MM=CM;CADD=22.3;VMM=40.88;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Agt|G635S|669|PRPF39|protein_coding|CODING|ENST00000355765|13|A),UTR_3_PRIME(MODIFIER||18132||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000424478|14|A),UTR_3_PRIME(MODIFIER||18132||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000554439|14|A),UTR_3_PRIME(MODIFIER||18132||152|PRPF39|nonsense_mediated_decay|CODING|ENST00000554429|15|A),UTR_3_PRIME(MODIFIER||17948||16|PRPF39|nonsense_mediated_decay|CODING|ENST00000554081|13|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3596|||SNORD127|snoRNA|NON_CODING|ENST00000458892||A),DOWNSTREAM(MODIFIER||1036||224|FKBP3|protein_coding|CODING|ENST00000216330||A),DOWNSTREAM(MODIFIER||4388||89|PRPF39|nonsense_mediated_decay|CODING|ENST00000557477||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3895|||PRPF39|retained_intron|CODING|ENST00000556718||A),DOWNSTREAM(MODIFIER||1036||224|FKBP3|protein_coding|CODING|ENST00000396062||A),EXON(MODIFIER|||||PRPF39|retained_intron|CODING|ENST00000477626|12|A),EXON(MODIFIER|||||PRPF39|retained_intron|CODING|ENST00000554785|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 62967417 Sibling 59A A C . . Gene=TLN2;MT=SNP;MM=CM;CADD=22.8;VMM=63.82;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gAg/gCg|E285A|2542|TLN2|protein_coding|CODING|ENST00000306829|8|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gAg/gCg|E285A|2542|TLN2|protein_coding|CODING|ENST00000561311|10|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 62995058 Sibling 59A T C . . Gene=TLN2;MT=SNP;MM=CM;CADD=22.2;VMM=63.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|F667L|2542|TLN2|protein_coding|CODING|ENST00000306829|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|F667L|2542|TLN2|protein_coding|CODING|ENST00000561311|18|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 12811434 Sibling 59A C A . . Gene=TNPO2;MT=SNP;MM=CM;CADD=16.45;VMM=32.33;EFF=UTR_3_PRIME(MODIFIER||726||897|TNPO2|protein_coding|CODING|ENST00000425528|26|A),UTR_3_PRIME(MODIFIER||726||887|TNPO2|protein_coding|CODING|ENST00000441499|26|A),UTR_3_PRIME(MODIFIER||726||887|TNPO2|protein_coding|CODING|ENST00000356861|25|A),UTR_3_PRIME(MODIFIER||726||887|TNPO2|protein_coding|CODING|ENST00000450764|24|A),UPSTREAM(MODIFIER||4002||488|FBXW9|protein_coding|CODING|ENST00000380339||A),UPSTREAM(MODIFIER||4001||172|FBXW9|nonsense_mediated_decay|CODING|ENST00000587296||A),UPSTREAM(MODIFIER||4001||196|FBXW9|protein_coding|CODING|ENST00000544494||A),UPSTREAM(MODIFIER||3977||458|FBXW9|protein_coding|CODING|ENST00000393261||A),UPSTREAM(MODIFIER||4039||478|FBXW9|protein_coding|CODING|ENST00000587955||A),DOWNSTREAM(MODIFIER||434||117|TNPO2|protein_coding|CODING|ENST00000589149||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||533||897|TNPO2|protein_coding|CODING|ENST00000592287||A),DOWNSTREAM(MODIFIER||707||887|TNPO2|protein_coding|CODING|ENST00000588216||A),DOWNSTREAM(MODIFIER||979|||TNPO2|retained_intron|CODING|ENST00000587155||A),DOWNSTREAM(MODIFIER||2208||765|TNPO2|non_stop_decay|CODING|ENST00000585886||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3056|||TNPO2|retained_intron|CODING|ENST00000587068||A),DOWNSTREAM(MODIFIER||3137||51|TNPO2|nonsense_mediated_decay|CODING|ENST00000589572||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3138||118|TNPO2|nonsense_mediated_decay|CODING|ENST00000588491||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 12833005 Sibling 59A A G . . Gene=TNPO2;MT=SNP;MM=CM;CADD=17.45;VMM=32.33;EFF=START_GAINED(LOW||||887|TNPO2|protein_coding|CODING|ENST00000356861|1|G),START_GAINED(LOW||||109|TNPO2|nonsense_mediated_decay|CODING|ENST00000586775|1|G),UTR_5_PRIME(MODIFIER||1214||887|TNPO2|protein_coding|CODING|ENST00000356861|1|G),UTR_5_PRIME(MODIFIER||1214||109|TNPO2|nonsense_mediated_decay|CODING|ENST00000586775|1|G),UPSTREAM(MODIFIER||476||887|TNPO2|protein_coding|CODING|ENST00000450764||G),UPSTREAM(MODIFIER||2904|||TNPO2|retained_intron|CODING|ENST00000588484||G),DOWNSTREAM(MODIFIER||3326|||CTD-2659N19.4|lincRNA|NON_CODING|ENST00000591596||G),INTRON(MODIFIER||||897|TNPO2|protein_coding|CODING|ENST00000425528|2|G),INTRON(MODIFIER||||887|TNPO2|protein_coding|CODING|ENST00000441499|2|G),INTRON(MODIFIER||||897|TNPO2|protein_coding|CODING|ENST00000592287|1|G),INTRON(MODIFIER||||887|TNPO2|protein_coding|CODING|ENST00000588216|2|G),INTRON(MODIFIER||||765|TNPO2|non_stop_decay|CODING|ENST00000585886|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||TNPO2|processed_transcript|CODING|ENST00000589956|1|G),INTRON(MODIFIER||||109|TNPO2|nonsense_mediated_decay|CODING|ENST00000587654|1|G),INTRON(MODIFIER||||84|TNPO2|protein_coding|CODING|ENST00000589337|2|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||55|TNPO2|protein_coding|CODING|ENST00000590781|1|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 219892665 Sibling 59A C G . . Gene=CCDC108;MT=SNP;MM=CM;CADD=32;VMM=113.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G640R|1925|CCDC108|protein_coding|CODING|ENST00000341552|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G640R|1925|CCDC108|protein_coding|CODING|ENST00000453220|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G640R|1925|CCDC108|protein_coding|CODING|ENST00000441968|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G629R|784|CCDC108|protein_coding|CODING|ENST00000409865|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Cgc|G575R|730|CCDC108|protein_coding|CODING|ENST00000410037|12|G),DOWNSTREAM(MODIFIER||3163||233|CCDC108|protein_coding|CODING|ENST00000457968||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4625||116|CCDC108|protein_coding|CODING|ENST00000436631||G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000462848|11|G),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000474601|3|G),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000463683|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 219894316 Sibling 59A G T . . Gene=CCDC108;MT=SNP;MM=CM;CADD=24.6;VMM=113.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L487M|1925|CCDC108|protein_coding|CODING|ENST00000341552|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L487M|1925|CCDC108|protein_coding|CODING|ENST00000453220|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L487M|1925|CCDC108|protein_coding|CODING|ENST00000441968|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L476M|784|CCDC108|protein_coding|CODING|ENST00000409865|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Atg|L422M|730|CCDC108|protein_coding|CODING|ENST00000410037|10|T),DOWNSTREAM(MODIFIER||1512||233|CCDC108|protein_coding|CODING|ENST00000457968||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2974||116|CCDC108|protein_coding|CODING|ENST00000436631||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4098||164|CCDC108|protein_coding|CODING|ENST00000295729||T),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000462848|9|T),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000474601|1|T),EXON(MODIFIER|||||CCDC108|retained_intron|CODING|ENST00000463683|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 31519003 Sibling 59A G T . . Gene=INPP5J;MT=SNP;MM=CM;CADD=22.4;VMM=45.5;EFF=START_LOST(HIGH|MISSENSE|atG/atT|M1I|1006|INPP5J|protein_coding|CODING|ENST00000331075|1|T),START_LOST(HIGH|MISSENSE|atG/atT|M1I|638|INPP5J|protein_coding|CODING|ENST00000404390|1|T),START_GAINED(LOW||||143|INPP5J|protein_coding|CODING|ENST00000412985|1|T|WARNING_TRANSCRIPT_INCOMPLETE),START_GAINED(LOW||||939|INPP5J|protein_coding|CODING|ENST00000412277|1|T),START_GAINED(LOW||||101|INPP5J|protein_coding|CODING|ENST00000420017|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||639|INPP5J|protein_coding|CODING|ENST00000400294|1|T),START_GAINED(LOW||||639|INPP5J|protein_coding|CODING|ENST00000405300|1|T),UTR_5_PRIME(MODIFIER||1924||143|INPP5J|protein_coding|CODING|ENST00000412985|1|T|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||1924||939|INPP5J|protein_coding|CODING|ENST00000412277|1|T),UTR_5_PRIME(MODIFIER||3393||101|INPP5J|protein_coding|CODING|ENST00000420017|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||2824||639|INPP5J|protein_coding|CODING|ENST00000400294|1|T),UTR_5_PRIME(MODIFIER||2824||639|INPP5J|protein_coding|CODING|ENST00000405300|1|T),UPSTREAM(MODIFIER||2948||145|SELM|protein_coding|CODING|ENST00000402395||T),UPSTREAM(MODIFIER||4743||345|INPP5J|protein_coding|CODING|ENST00000402238||T),UPSTREAM(MODIFIER||4772||371|INPP5J|protein_coding|CODING|ENST00000404453||T),UPSTREAM(MODIFIER||4785||371|INPP5J|protein_coding|CODING|ENST00000401755||T),EXON(MODIFIER|||||INPP5J|processed_transcript|CODING|ENST00000463528|2|T),EXON(MODIFIER|||||INPP5J|retained_intron|CODING|ENST00000461241|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 31520707 Sibling 59A G A . . Gene=INPP5J;MT=SNP;MM=CM;CADD=17.24;VMM=45.5;EFF=UPSTREAM(MODIFIER||4652||145|SELM|protein_coding|CODING|ENST00000402395||A),UPSTREAM(MODIFIER||3039||345|INPP5J|protein_coding|CODING|ENST00000402238||A),UPSTREAM(MODIFIER||3068||371|INPP5J|protein_coding|CODING|ENST00000404453||A),UPSTREAM(MODIFIER||3081||371|INPP5J|protein_coding|CODING|ENST00000401755||A),INTRON(MODIFIER||||1006|INPP5J|protein_coding|CODING|ENST00000331075|1|A),INTRON(MODIFIER|||||INPP5J|processed_transcript|CODING|ENST00000463528|4|A),INTRON(MODIFIER||||143|INPP5J|protein_coding|CODING|ENST00000412985|2|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||939|INPP5J|protein_coding|CODING|ENST00000412277|2|A),INTRON(MODIFIER|||||INPP5J|retained_intron|CODING|ENST00000461241|1|A),INTRON(MODIFIER||||101|INPP5J|protein_coding|CODING|ENST00000420017|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||639|INPP5J|protein_coding|CODING|ENST00000400294|1|A),INTRON(MODIFIER||||638|INPP5J|protein_coding|CODING|ENST00000404390|1|A),INTRON(MODIFIER||||639|INPP5J|protein_coding|CODING|ENST00000405300|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 179399757 Sibling 59A G A . . Gene=USP13;MT=SNP;MM=CM;CADD=18.84;VMM=65.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S87N|863|USP13|protein_coding|CODING|ENST00000263966|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S63N|75|USP13|nonsense_mediated_decay|CODING|ENST00000497380|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S22N|798|USP13|protein_coding|CODING|ENST00000496897|2|A),EXON(MODIFIER|||||USP13|processed_transcript|CODING|ENST00000482333|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 179470095 Sibling 59A C G . . Gene=USP13;MT=SNP;MM=CM;CADD=27.8;VMM=65.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P578A|863|USP13|protein_coding|CODING|ENST00000263966|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P513A|798|USP13|protein_coding|CODING|ENST00000496897|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P224A|298|USP13|protein_coding|CODING|ENST00000497155|7|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||USP13|processed_transcript|CODING|ENST00000482333|13|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 194343945 Sibling 59A G A . . Gene=TMEM44;MT=SNP;MM=CM;CADD=14.24;VMM=58.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P104L|113|TMEM44|protein_coding|CODING|ENST00000330115|5|A),SPLICE_SITE_REGION+INTRON(LOW||||475|TMEM44|protein_coding|CODING|ENST00000392432|5|A),SPLICE_SITE_REGION+INTRON(LOW||||439|TMEM44|protein_coding|CODING|ENST00000273580|5|A),SPLICE_SITE_REGION+INTRON(LOW||||396|TMEM44|protein_coding|CODING|ENST00000381975|5|A),SPLICE_SITE_REGION+INTRON(LOW||||428|TMEM44|protein_coding|CODING|ENST00000347147|5|A),SPLICE_SITE_REGION+INTRON(LOW||||438|TMEM44|protein_coding|CODING|ENST00000473092|5|A),SPLICE_SITE_REGION+INTRON(LOW||||261|TMEM44|protein_coding|CODING|ENST00000452358|3|A|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_REGION+INTRON(LOW||||150|TMEM44|nonsense_mediated_decay|CODING|ENST00000419280|5|A),SPLICE_SITE_REGION+INTRON(LOW|||||TMEM44|processed_transcript|CODING|ENST00000494894|4|A),DOWNSTREAM(MODIFIER||8||121|TMEM44|nonsense_mediated_decay|CODING|ENST00000430601||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 194344019 Sibling 59A GC G . . Gene=TMEM44;MT=INDEL;MM=CM;CADD=35;VMM=58.6;EFF=FRAME_SHIFT(HIGH||ggc/|G182|475|TMEM44|protein_coding|CODING|ENST00000392432|5|G),FRAME_SHIFT(HIGH||ggc/|G182|439|TMEM44|protein_coding|CODING|ENST00000273580|5|G),FRAME_SHIFT(HIGH||ggc/|G182|396|TMEM44|protein_coding|CODING|ENST00000381975|5|G),FRAME_SHIFT(HIGH||ggc/|G182|428|TMEM44|protein_coding|CODING|ENST00000347147|5|G),FRAME_SHIFT(HIGH||ggc/|G182|438|TMEM44|protein_coding|CODING|ENST00000473092|5|G),FRAME_SHIFT(HIGH||ggc/|G81|261|TMEM44|protein_coding|CODING|ENST00000452358|3|G|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||ggc/|G79|150|TMEM44|nonsense_mediated_decay|CODING|ENST00000419280|5|G),FRAME_SHIFT(HIGH||ggc/|G79|113|TMEM44|protein_coding|CODING|ENST00000330115|5|G),UTR_3_PRIME(MODIFIER||333||121|TMEM44|nonsense_mediated_decay|CODING|ENST00000430601|5|G),EXON(MODIFIER|||||TMEM44|processed_transcript|CODING|ENST00000494894|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 33631598 Sibling 59A C T . . Gene=ITPR3;MT=SNP;MM=CM;CADD=14.73;VMM=55.59;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I363|2671|ITPR3|protein_coding|CODING|ENST00000374316|12|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I363|2671|ITPR3|protein_coding|CODING|ENST00000605930|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 33650343 Sibling 59A C T . . Gene=ITPR3;MT=SNP;MM=CM;CADD=32;VMM=55.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1507C|2671|ITPR3|protein_coding|CODING|ENST00000374316|35|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R1507C|2671|ITPR3|protein_coding|CODING|ENST00000605930|34|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 103138354 Sibling 59A G A . . Gene=RELN;MT=SNP;MM=CM;CADD=35;VMM=143.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R2955C|3460|RELN|protein_coding|CODING|ENST00000424685|55|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R2955C|3458|RELN|protein_coding|CODING|ENST00000343529|55|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R2955C|3460|RELN|protein_coding|CODING|ENST00000428762|55|A),INTRON(MODIFIER|||||CTB-107G13.1|antisense|NON_CODING|ENST00000422488|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 103159939 Sibling 59A C T . . Gene=RELN;MT=SNP;MM=CM;CADD=26.8;VMM=143.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2565M|3460|RELN|protein_coding|CODING|ENST00000424685|49|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2565M|3458|RELN|protein_coding|CODING|ENST00000343529|49|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V2565M|3460|RELN|protein_coding|CODING|ENST00000428762|49|T),DOWNSTREAM(MODIFIER||4008|||RELN|retained_intron|CODING|ENST00000478148||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 101096287 Sibling 60A G A . . Gene=NXF5;MT=SNP;MM=XL;CADD=20.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|397|NXF5|nonsense_mediated_decay|CODING|ENST00000263032|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R50W|302|NXF5|nonsense_mediated_decay|CODING|ENST00000332614|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R50W|305|NXF5|nonsense_mediated_decay|CODING|ENST00000361330|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|368|NXF5|nonsense_mediated_decay|CODING|ENST00000372803|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|168|NXF5|nonsense_mediated_decay|CODING|ENST00000493509|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|365|NXF5|protein_coding|CODING|ENST00000537026|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|365|NXF5|protein_coding|CODING|ENST00000473265|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R113W|397|NXF5|protein_coding|CODING|ENST00000361708|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15517113 Sibling 60A T C . . Gene=CDRT1;MT=SNP;MM=CM;CADD=11.88;VMM=32.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAc/cGc|H95R|299|CDRT1|protein_coding|CODING|ENST00000261644|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||953|RP11-385D13.1|protein_coding|CODING|ENST00000455584|9|C),INTRON(MODIFIER||||752|CDRT1|protein_coding|CODING|ENST00000395906|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 15522455 Sibling 60A C G . . Gene=CDRT1;MT=SNP;MM=CM;CADD=25.4;VMM=32.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W124C|752|CDRT1|protein_coding|CODING|ENST00000395906|1|G),UPSTREAM(MODIFIER||3447||299|CDRT1|protein_coding|CODING|ENST00000261644||G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||953|RP11-385D13.1|protein_coding|CODING|ENST00000455584|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 218682715 Sibling 60A G A . . Gene=TNS1;MT=SNP;MM=CM;CADD=28.2;VMM=45.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1343F|1735|TNS1|protein_coding|CODING|ENST00000171887|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S481F|873|TNS1|protein_coding|CODING|ENST00000446688|6|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1330F|1721|TNS1|protein_coding|CODING|ENST00000419504|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S1322F|1714|TNS1|protein_coding|CODING|ENST00000430930|21|A),UPSTREAM(MODIFIER||3976|||TNS1|retained_intron|CODING|ENST00000490566||A),UPSTREAM(MODIFIER||2624|||TNS1|retained_intron|CODING|ENST00000495556||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 218757696 Sibling 60A T C . . Gene=TNS1;MT=SNP;MM=CM;CADD=14.06;VMM=45.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M128V|1735|TNS1|protein_coding|CODING|ENST00000171887|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M128V|1721|TNS1|protein_coding|CODING|ENST00000419504|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M128V|1714|TNS1|protein_coding|CODING|ENST00000430930|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M253V|779|TNS1|protein_coding|CODING|ENST00000446903|11|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M196V|486|TNS1|protein_coding|CODING|ENST00000413554|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M159V|416|TNS1|protein_coding|CODING|ENST00000310858|6|C),DOWNSTREAM(MODIFIER||500||101|TNS1|protein_coding|CODING|ENST00000413280||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2068||60|TNS1|protein_coding|CODING|ENST00000439083||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4822||121|TNS1|protein_coding|CODING|ENST00000423413||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4920||23|TNS1|protein_coding|CODING|ENST00000449814||C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||TNS1|retained_intron|CODING|ENST00000492338|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 32459402 Sibling 61A C G . . Gene=DMD;MT=SNP;MM=XL;CADD=26.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L1272F|3685|DMD|protein_coding|CODING|ENST00000357033|28|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttG/ttC|L1268F|3681|DMD|protein_coding|CODING|ENST00000378677|28|G),INTRON(MODIFIER|||||DMD|processed_transcript|CODING|ENST00000488902|2|G),INTRON(MODIFIER||||100|DMD|protein_coding|CODING|ENST00000420596|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||40|DMD|protein_coding|CODING|ENST00000448370|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 80184876 Sibling 61A T C . . Gene=BRWD3(dist=119643),HMGN5(dist=184324);MT=SNP;MM=XL;CADD=16.25;VMM=0;EFF=UPSTREAM(MODIFIER||123|||VDAC1P1|processed_pseudogene|NON_CODING|ENST00000439229||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153247314 Sibling 61A C T . . Gene=TMEM187;MT=SNP;MM=XL;CADD=16.42;VMM=0;EFF=START_GAINED(LOW||||261|TMEM187|protein_coding|CODING|ENST00000369982|2|T),START_GAINED(LOW||||65|TMEM187|protein_coding|CODING|ENST00000425274|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||32|TMEM187|protein_coding|CODING|ENST00000431598|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||200||261|TMEM187|protein_coding|CODING|ENST00000369982|2|T),UTR_5_PRIME(MODIFIER||200||65|TMEM187|protein_coding|CODING|ENST00000425274|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||200||32|TMEM187|protein_coding|CODING|ENST00000431598|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||686|||MIR3202-1|miRNA|NON_CODING|ENST00000580198||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 60615536 Sibling 61A C T . . Gene=CCDC86;MT=SNP;MM=CM;CADD=17.21;VMM=52.29;EFF=DOWNSTREAM(MODIFIER||2877||395|PTGDR2|protein_coding|CODING|ENST00000332539||T),INTRON(MODIFIER|||||RP11-804A23.4|antisense|NON_CODING|ENST00000538705|1|T),INTRON(MODIFIER||||360|CCDC86|protein_coding|CODING|ENST00000227520|2|T),INTRON(MODIFIER||||87|CCDC86|nonsense_mediated_decay|CODING|ENST00000535217|3|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||104|CCDC86|protein_coding|CODING|ENST00000545580|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 60617428 Sibling 61A C G . . Gene=CCDC86;MT=SNP;MM=CM;CADD=25.3;VMM=52.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R302G|360|CCDC86|protein_coding|CODING|ENST00000227520|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Ggg|R46G|104|CCDC86|protein_coding|CODING|ENST00000545580|3|G),UTR_3_PRIME(MODIFIER||7250||87|CCDC86|nonsense_mediated_decay|CODING|ENST00000535217|4|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||985||395|PTGDR2|protein_coding|CODING|ENST00000332539||G),INTRON(MODIFIER|||||RP11-804A23.4|antisense|NON_CODING|ENST00000538705|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 21427082 Sibling 62A AAGTT A . . Gene=CNKSR2;MT=INDEL;MM=XL;CADD=18.09;VMM=0;EFF=INTRON(MODIFIER||||1034|CNKSR2|protein_coding|CODING|ENST00000379510|1|A),INTRON(MODIFIER||||849|CNKSR2|protein_coding|CODING|ENST00000543067|1|A),INTRON(MODIFIER||||1004|CNKSR2|protein_coding|CODING|ENST00000425654|1|A),INTRON(MODIFIER||||898|CNKSR2|protein_coding|CODING|ENST00000279451|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 129173233 Sibling 62A G A . . Gene=BCORL1;MT=SNP;MM=XL;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1606N|1785|BCORL1|protein_coding|CODING|ENST00000303743|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1532N|1711|BCORL1|protein_coding|CODING|ENST00000218147|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1402N|1581|BCORL1|protein_coding|CODING|ENST00000359304|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1532N|1711|BCORL1|protein_coding|CODING|ENST00000540052|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1206N|1385|BCORL1|protein_coding|CODING|ENST00000456822|8|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 19480266 Sibling 62A G A . . Gene=UBR4;MT=SNP;MM=CM;CADD=26.9;VMM=37.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2209V|5204|UBR4|protein_coding|CODING|ENST00000375267|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2209V|5176|UBR4|protein_coding|CODING|ENST00000375217|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2209V|5159|UBR4|protein_coding|CODING|ENST00000375226|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2209V|5183|UBR4|protein_coding|CODING|ENST00000375254|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A919V|2057|UBR4|protein_coding|CODING|ENST00000417040|18|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2072||983|UBR4|protein_coding|CODING|ENST00000425413||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||67|||UBR4|processed_transcript|CODING|ENST00000497018||A),EXON(MODIFIER|||||UBR4|retained_intron|CODING|ENST00000419533|27|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 19487868 Sibling 62A T G . . Gene=UBR4;MT=SNP;MM=CM;CADD=12.51;VMM=37.11;EFF=INTRON(MODIFIER||||5204|UBR4|protein_coding|CODING|ENST00000375267|37|G),INTRON(MODIFIER||||5176|UBR4|protein_coding|CODING|ENST00000375217|37|G),INTRON(MODIFIER||||5159|UBR4|protein_coding|CODING|ENST00000375226|37|G),INTRON(MODIFIER||||5183|UBR4|protein_coding|CODING|ENST00000375254|37|G),INTRON(MODIFIER||||2057|UBR4|protein_coding|CODING|ENST00000417040|10|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||UBR4|retained_intron|CODING|ENST00000419533|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 178421329 Sibling 62A T C . . Gene=RASAL2;MT=SNP;MM=CM;CADD=20.3;VMM=32.99;EFF=UPSTREAM(MODIFIER||243||692|RASAL2|protein_coding|CODING|ENST00000433130||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4281|||RASAL2|retained_intron|CODING|ENST00000463079||C),INTRON(MODIFIER||||1280|RASAL2|protein_coding|CODING|ENST00000367649|10|C),INTRON(MODIFIER||||1269|RASAL2|protein_coding|CODING|ENST00000448150|10|C),INTRON(MODIFIER||||1139|RASAL2|protein_coding|CODING|ENST00000462775|8|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 178445878 Sibling 62A T C . . Gene=RASAL2;MT=SNP;MM=CM;CADD=14.5;VMM=32.99;EFF=UTR_3_PRIME(MODIFIER||3504||1269|RASAL2|protein_coding|CODING|ENST00000448150|18|C),UTR_3_PRIME(MODIFIER||3504||1139|RASAL2|protein_coding|CODING|ENST00000462775|16|C),UPSTREAM(MODIFIER||3864|||RP4-593C16.3|sense_overlapping|NON_CODING|ENST00000564300||C),DOWNSTREAM(MODIFIER||3321||1280|RASAL2|protein_coding|CODING|ENST00000367649||C),DOWNSTREAM(MODIFIER||3221||692|RASAL2|protein_coding|CODING|ENST00000433130||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 98144452 Sibling 62A C T . . Gene=TLL2;MT=SNP;MM=CM;CADD=33;VMM=72.57;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G696S|1015|TLL2|protein_coding|CODING|ENST00000357947|16|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 98273238 Sibling 62A CTGCGGGACT C . . Gene=TLL2;MT=INDEL;MM=CM;CADD=17.42;VMM=72.57;EFF=DOWNSTREAM(MODIFIER||4627||589|TM9SF3|protein_coding|CODING|ENST00000371142||C),INTRON(MODIFIER||||1015|TLL2|protein_coding|CODING|ENST00000357947|1|C),INTRON(MODIFIER|||||TLL2|processed_transcript|CODING|ENST00000469598|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 8170350 Sibling 62A G A . . Gene=PFAS;MT=SNP;MM=CM;CADD=12.12;VMM=33.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R991Q|1338|PFAS|protein_coding|CODING|ENST00000314666|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R567Q|914|PFAS|protein_coding|CODING|ENST00000545834|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R94Q|384|PFAS|protein_coding|CODING|ENST00000546020|4|A),UTR_3_PRIME(MODIFIER||11216||131|PFAS|nonsense_mediated_decay|CODING|ENST00000580356|22|A),UTR_3_PRIME(MODIFIER||509||61|PFAS|nonsense_mediated_decay|CODING|ENST00000578979|4|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2718|||PFAS|processed_transcript|CODING|ENST00000585319||A),DOWNSTREAM(MODIFIER||2765||114|PFAS|protein_coding|CODING|ENST00000583059||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2391|||PFAS|retained_intron|CODING|ENST00000581288||A),EXON(MODIFIER|||||PFAS|retained_intron|CODING|ENST00000580251|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 8172337 Sibling 62A C T . . Gene=PFAS;MT=SNP;MM=CM;CADD=25.7;VMM=33.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H1258Y|1338|PFAS|protein_coding|CODING|ENST00000314666|28|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Tac|H834Y|914|PFAS|protein_coding|CODING|ENST00000545834|26|T),UTR_3_PRIME(MODIFIER||13203||131|PFAS|nonsense_mediated_decay|CODING|ENST00000580356|26|T),UTR_3_PRIME(MODIFIER||23||384|PFAS|protein_coding|CODING|ENST00000546020|7|T),DOWNSTREAM(MODIFIER||4705|||PFAS|processed_transcript|CODING|ENST00000585319||T),DOWNSTREAM(MODIFIER||4752||114|PFAS|protein_coding|CODING|ENST00000583059||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4378|||PFAS|retained_intron|CODING|ENST00000581288||T),DOWNSTREAM(MODIFIER||1790||61|PFAS|nonsense_mediated_decay|CODING|ENST00000578979||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1790|||PFAS|retained_intron|CODING|ENST00000580251||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 77099455 Sibling 62A A G . . Gene=RBFOX3;MT=SNP;MM=CM;CADD=18.22;VMM=36.99;EFF=UPSTREAM(MODIFIER||4865|||RBFOX3|retained_intron|CODING|ENST00000581393||G),UPSTREAM(MODIFIER||2963|||RBFOX3|retained_intron|CODING|ENST00000578998||G),INTRON(MODIFIER||||358|RBFOX3|protein_coding|CODING|ENST00000583458|6|G),INTRON(MODIFIER||||312|RBFOX3|protein_coding|CODING|ENST00000415831|6|G),INTRON(MODIFIER||||328|RBFOX3|protein_coding|CODING|ENST00000582043|4|G),INTRON(MODIFIER||||312|RBFOX3|protein_coding|CODING|ENST00000580155|7|G),INTRON(MODIFIER||||312|RBFOX3|protein_coding|CODING|ENST00000453134|7|G),INTRON(MODIFIER||||325|RBFOX3|protein_coding|CODING|ENST00000584778|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 77111708 Sibling 62A C T . . Gene=RBFOX3;MT=SNP;MM=CM;CADD=17.71;VMM=36.99;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|358|RBFOX3|protein_coding|CODING|ENST00000583458|4|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|312|RBFOX3|protein_coding|CODING|ENST00000415831|4|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|328|RBFOX3|protein_coding|CODING|ENST00000582043|2|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|312|RBFOX3|protein_coding|CODING|ENST00000580155|5|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|312|RBFOX3|protein_coding|CODING|ENST00000453134|5|T),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T30|325|RBFOX3|protein_coding|CODING|ENST00000584778|5|T),DOWNSTREAM(MODIFIER||72||51|RBFOX3|protein_coding|CODING|ENST00000580508||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||77||3|RBFOX3|protein_coding|CODING|ENST00000582139||T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 37267979 Sibling 62A C T . . Gene=ARHGAP40;MT=SNP;MM=CM;CADD=33;VMM=76.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P357L|622|ARHGAP40|protein_coding|CODING|ENST00000373345|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P297L|591|ARHGAP40|protein_coding|CODING|ENST00000243967|7|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4571||153|ARHGAP40|protein_coding|CODING|ENST00000373346||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 37272530 Sibling 62A C A . . Gene=ARHGAP40;MT=SNP;MM=CM;CADD=18.14;VMM=76.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Aac|H463N|622|ARHGAP40|protein_coding|CODING|ENST00000373345|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Aac|H403N|591|ARHGAP40|protein_coding|CODING|ENST00000243967|9|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||20||153|ARHGAP40|protein_coding|CODING|ENST00000373346||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3176||71|ARHGAP40|protein_coding|CODING|ENST00000414158||A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 56603576 Sibling 62A C T . . Gene=CCDC66;MT=SNP;MM=CM;CADD=13.48;VMM=32.31;EFF=UTR_3_PRIME(MODIFIER||8606||60|CCDC66|nonsense_mediated_decay|CODING|ENST00000434467|8|T),UTR_3_PRIME(MODIFIER||186||287|CCDC66|protein_coding|CODING|ENST00000538560|7|T),DOWNSTREAM(MODIFIER||2809|||CCDC66|processed_transcript|CODING|ENST00000460838||T),DOWNSTREAM(MODIFIER||2842|||CCDC66|processed_transcript|CODING|ENST00000472582||T),DOWNSTREAM(MODIFIER||4343||38|CCDC66|nonsense_mediated_decay|CODING|ENST00000422788||T),DOWNSTREAM(MODIFIER||4371|||CCDC66|retained_intron|CODING|ENST00000473322||T),INTRON(MODIFIER||||948|CCDC66|protein_coding|CODING|ENST00000394672|6|T),INTRON(MODIFIER||||632|CCDC66|protein_coding|CODING|ENST00000422222|6|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||914|CCDC66|protein_coding|CODING|ENST00000326595|6|T),INTRON(MODIFIER||||287|CCDC66|nonsense_mediated_decay|CODING|ENST00000471681|6|T),INTRON(MODIFIER||||230|CCDC66|nonsense_mediated_decay|CODING|ENST00000341455|6|T),INTRON(MODIFIER||||948|CCDC66|protein_coding|CODING|ENST00000436465|6|T),INTRON(MODIFIER|||||CCDC66|processed_transcript|CODING|ENST00000484623|3|T),INTRON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000482673|2|T),INTRON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000494672|1|T),INTRON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000484441|1|T),EXON(MODIFIER|||||CCDC66|processed_transcript|CODING|ENST00000442522|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 56605311 Sibling 62A A G . . Gene=CCDC66;MT=SNP;MM=CM;CADD=21.6;VMM=32.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q306R|948|CCDC66|protein_coding|CODING|ENST00000394672|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q306R|632|CCDC66|protein_coding|CODING|ENST00000422222|7|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q272R|914|CCDC66|protein_coding|CODING|ENST00000326595|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q272R|287|CCDC66|nonsense_mediated_decay|CODING|ENST00000471681|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAa/cGa|Q306R|948|CCDC66|protein_coding|CODING|ENST00000436465|7|G),UTR_3_PRIME(MODIFIER||4332||230|CCDC66|nonsense_mediated_decay|CODING|ENST00000341455|7|G),DOWNSTREAM(MODIFIER||4544|||CCDC66|processed_transcript|CODING|ENST00000460838||G),DOWNSTREAM(MODIFIER||4577|||CCDC66|processed_transcript|CODING|ENST00000472582||G),DOWNSTREAM(MODIFIER||537||60|CCDC66|nonsense_mediated_decay|CODING|ENST00000434467||G),DOWNSTREAM(MODIFIER||612|||CCDC66|processed_transcript|CODING|ENST00000442522||G),DOWNSTREAM(MODIFIER||537||287|CCDC66|protein_coding|CODING|ENST00000538560||G),INTRON(MODIFIER|||||CCDC66|processed_transcript|CODING|ENST00000484623|3|G),EXON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000482673|3|G),EXON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000494672|2|G),EXON(MODIFIER|||||CCDC66|retained_intron|CODING|ENST00000484441|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 62180739 Sibling 62A G A . . Gene=PTPRG;MT=SNP;MM=CM;CADD=26.4;VMM=50.18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A408T|1445|PTPRG|protein_coding|CODING|ENST00000474889|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A408T|1416|PTPRG|protein_coding|CODING|ENST00000295874|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 62216883 Sibling 62A T G . . Gene=PTPRG;MT=SNP;MM=CM;CADD=16.05;VMM=50.18;EFF=NEXT_PROT[topological-domain:Cytoplasmic](LOW||||1445|PTPRG|protein_coding|CODING||13|G),INTRON(MODIFIER||||1445|PTPRG|protein_coding|CODING|ENST00000474889|13|G),INTRON(MODIFIER||||1416|PTPRG|protein_coding|CODING|ENST00000295874|13|G),INTRON(MODIFIER|||||PTPRG|processed_transcript|CODING|ENST00000475012|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 108102660 Sibling 62A T C . . Gene=MYH15;MT=SNP;MM=CM;CADD=14.3;VMM=45.91;EFF=INTRON(MODIFIER||||1946|MYH15|protein_coding|CODING|ENST00000273353|40|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 108127252 Sibling 62A C A . . Gene=MYH15;MT=SNP;MM=CM;CADD=27.9;VMM=45.91;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||1946|MYH15|protein_coding|CODING|ENST00000273353|32|A),SPLICE_SITE_ACCEPTOR+INTRON(HIGH|||||MYH15|retained_intron|CODING|ENST00000478998|14|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ibling 62A A G . . Gene=MAN2B2;MT=SNP;MM=CM;CADD=11.28;VMM=31.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I602V|1009|MAN2B2|protein_coding|CODING|ENST00000285599|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I551V|958|MAN2B2|protein_coding|CODING|ENST00000504248|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Gtc|I600V|952|MAN2B2|protein_coding|CODING|ENST00000505907|11|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||MAN2B2|processed_transcript|CODING|ENST00000504960|1|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ibling 62A C T . . Gene=MAN2B2;MT=SNP;MM=CM;CADD=25.9;VMM=31.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T971M|1009|MAN2B2|protein_coding|CODING|ENST00000285599|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T920M|958|MAN2B2|protein_coding|CODING|ENST00000504248|18|T),UTR_3_PRIME(MODIFIER||2481||952|MAN2B2|protein_coding|CODING|ENST00000505907|17|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1108|||MAN2B2|processed_transcript|CODING|ENST00000510427||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 139851940 Sibling 62A C G . . Gene=ANKHD1;MT=SNP;MM=CM;CADD=19.15;VMM=34.73;EFF=UTR_3_PRIME(MODIFIER||15||627|ANKHD1|protein_coding|CODING|ENST00000394723|11|G),UTR_3_PRIME(MODIFIER||15||616|ANKHD1|protein_coding|CODING|ENST00000394722|11|G),INTRON(MODIFIER||||2617|ANKHD1|protein_coding|CODING|ENST00000297183|10|G),INTRON(MODIFIER||||2617|ANKHD1-EIF4EBP3|protein_coding|CODING|ENST00000532219|10|G),INTRON(MODIFIER||||2542|ANKHD1|protein_coding|CODING|ENST00000360839|10|G),INTRON(MODIFIER||||1564|ANKHD1|protein_coding|CODING|ENST00000421134|11|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||685|ANKHD1|protein_coding|CODING|ENST00000246149|3|G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 139923643 Sibling 62A C T . . Gene=ANKHD1;MT=SNP;MM=CM;CADD=15.99;VMM=34.73;EFF=UPSTREAM(MODIFIER||3608||100|EIF4EBP3|protein_coding|CODING|ENST00000310331||T),DOWNSTREAM(MODIFIER||4202||2542|ANKHD1|protein_coding|CODING|ENST00000360839||T),DOWNSTREAM(MODIFIER||4209||1215|ANKHD1|protein_coding|CODING|ENST00000431508||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4210||1072|ANKHD1|protein_coding|CODING|ENST00000433049||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4202||1023|ANKHD1|protein_coding|CODING|ENST00000435794||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4209||933|ANKHD1|protein_coding|CODING|ENST00000432301||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4209||866|ANKHD1|protein_coding|CODING|ENST00000544120||T),DOWNSTREAM(MODIFIER||4716||184|ANKHD1|protein_coding|CODING|ENST00000421706||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||2617|ANKHD1|protein_coding|CODING|ENST00000297183|34|T),INTRON(MODIFIER||||2617|ANKHD1-EIF4EBP3|protein_coding|CODING|ENST00000532219|34|T),INTRON(MODIFIER|||||ANKHD1-EIF4EBP3|retained_intron|CODING|ENST00000474060|5|T),INTRON(MODIFIER||||636|ANKHD1-EIF4EBP3|protein_coding|CODING|ENST00000437495|6|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||74|SRA1|protein_coding|CODING|ENST00000602657|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 111795501 Sibling 62A A G . . Gene=TMEM245;MT=SNP;MM=CM;CADD=11.41;VMM=43.11;EFF=DOWNSTREAM(MODIFIER||2799|||TMEM245|retained_intron|CODING|ENST00000482868||G),INTRON(MODIFIER||||879|TMEM245|protein_coding|CODING|ENST00000374586|17|G),INTRON(MODIFIER|||||TMEM245|retained_intron|CODING|ENST00000472207|3|G),INTRON(MODIFIER||||471|TMEM245|protein_coding|CODING|ENST00000413712|11|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||253|TMEM245|nonsense_mediated_decay|CODING|ENST00000491854|15|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 111849521 Sibling 62A G A . . Gene=TMEM245;MT=SNP;MM=CM;CADD=35;VMM=43.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R418W|879|TMEM245|protein_coding|CODING|ENST00000374586|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R18W|471|TMEM245|protein_coding|CODING|ENST00000413712|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R168W|253|TMEM245|nonsense_mediated_decay|CODING|ENST00000491854|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 17165588 Sibling 63A C T . . Gene=REPS2;MT=SNP;MM=XL;CADD=32;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P656L|660|REPS2|protein_coding|CODING|ENST00000357277|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P655L|659|REPS2|protein_coding|CODING|ENST00000303843|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P455L|459|REPS2|protein_coding|CODING|ENST00000380064|16|T),EXON(MODIFIER|||||REPS2|processed_transcript|CODING|ENST00000469714|6|T),EXON(MODIFIER|||||REPS2|retained_intron|CODING|ENST00000470686|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 24579461 Sibling 63A C T . . Gene=PCYT1B;MT=SNP;MM=XL;CADD=18.09;VMM=0;EFF=MOTIF[MA0139.1:CTCF](MODIFIER||||||||||T),UTR_3_PRIME(MODIFIER||949||351|PCYT1B|protein_coding|CODING|ENST00000379145|8|T),DOWNSTREAM(MODIFIER||498||369|PCYT1B|protein_coding|CODING|ENST00000379144||T),DOWNSTREAM(MODIFIER||498||330|PCYT1B|protein_coding|CODING|ENST00000356768||T),DOWNSTREAM(MODIFIER||1057||177|PCYT1B|nonsense_mediated_decay|CODING|ENST00000496020||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 80186608 Sibling 63A C T . . Gene=BRWD3(dist=121375),HMGN5(dist=182592);MT=SNP;MM=XL;CADD=17.07;VMM=0;EFF=DOWNSTREAM(MODIFIER||762|||VDAC1P1|processed_pseudogene|NON_CODING|ENST00000439229||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 111326306 Sibling 63A C T . . Gene=ZCCHC16;MT=SNP;MM=XL;CADD=22.9;VMM=0;EFF=UPSTREAM(MODIFIER||302||973|TRPC5|protein_coding|CODING|ENST00000262839||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153524270 Sibling 63A A G . . Gene=TKTL1;MT=SNP;MM=XL;CADD=22.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T20A|596|TKTL1|protein_coding|CODING|ENST00000369915|1|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|T20A|127|TKTL1|nonsense_mediated_decay|CODING|ENST00000439635|1|G),UTR_5_PRIME(MODIFIER||9420||336|TKTL1|protein_coding|CODING|ENST00000217905|1|G),UPSTREAM(MODIFIER||808||410|TEX28|protein_coding|CODING|ENST00000361930||G),UPSTREAM(MODIFIER||706||410|TEX28|protein_coding|CODING|ENST00000369926||G),UPSTREAM(MODIFIER||474||96|TEX28|protein_coding|CODING|ENST00000428625||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 50745138 Sibling 63A G A . . Gene=NOD2;MT=SNP;MM=CM;CADD=15.28;VMM=49.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R439H|1040|NOD2|protein_coding|CODING|ENST00000300589|4|A),UPSTREAM(MODIFIER||1617|||RP11-327F22.6|sense_intronic|NON_CODING|ENST00000602304||A),UPSTREAM(MODIFIER||967||59|NOD2|nonsense_mediated_decay|CODING|ENST00000524712||A),UPSTREAM(MODIFIER||967||59|NOD2|nonsense_mediated_decay|CODING|ENST00000527052||A),UPSTREAM(MODIFIER||967||59|NOD2|nonsense_mediated_decay|CODING|ENST00000529633||A),UPSTREAM(MODIFIER||967||167|NOD2|protein_coding|CODING|ENST00000534057||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||967||59|NOD2|nonsense_mediated_decay|CODING|ENST00000534067||A),DOWNSTREAM(MODIFIER||276|||NOD2|processed_transcript|CODING|ENST00000526417||A),DOWNSTREAM(MODIFIER||436||35|NOD2|nonsense_mediated_decay|CODING|ENST00000527070||A),DOWNSTREAM(MODIFIER||436|||NOD2|processed_transcript|CODING|ENST00000532206||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 50745929 Sibling 63A C T . . Gene=NOD2;MT=SNP;MM=CM;CADD=27.6;VMM=49.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R703C|1040|NOD2|protein_coding|CODING|ENST00000300589|4|T),UPSTREAM(MODIFIER||826|||RP11-327F22.6|sense_intronic|NON_CODING|ENST00000602304||T),UPSTREAM(MODIFIER||176||59|NOD2|nonsense_mediated_decay|CODING|ENST00000524712||T),UPSTREAM(MODIFIER||176||59|NOD2|nonsense_mediated_decay|CODING|ENST00000527052||T),UPSTREAM(MODIFIER||176||59|NOD2|nonsense_mediated_decay|CODING|ENST00000529633||T),UPSTREAM(MODIFIER||176||167|NOD2|protein_coding|CODING|ENST00000534057||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||176||59|NOD2|nonsense_mediated_decay|CODING|ENST00000534067||T),DOWNSTREAM(MODIFIER||1067|||NOD2|processed_transcript|CODING|ENST00000526417||T),DOWNSTREAM(MODIFIER||1227||35|NOD2|nonsense_mediated_decay|CODING|ENST00000527070||T),DOWNSTREAM(MODIFIER||1227|||NOD2|processed_transcript|CODING|ENST00000532206||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 66649108 Sibling 63A A G . . Gene=CMTM4;MT=SNP;MM=CM;CADD=15.43;VMM=32.96;EFF=UTR_3_PRIME(MODIFIER||2072||234|CMTM4|protein_coding|CODING|ENST00000330687|5|G),DOWNSTREAM(MODIFIER||1313||182|CMTM3|protein_coding|CODING|ENST00000361909||G),DOWNSTREAM(MODIFIER||1313||182|CMTM3|protein_coding|CODING|ENST00000424011||G),DOWNSTREAM(MODIFIER||2088||59|CMTM3|protein_coding|CODING|ENST00000360086||G),DOWNSTREAM(MODIFIER||2504||182|CMTM3|protein_coding|CODING|ENST00000562707||G),DOWNSTREAM(MODIFIER||1313||96|CMTM3|protein_coding|CODING|ENST00000460097||G),DOWNSTREAM(MODIFIER||1325||182|CMTM3|protein_coding|CODING|ENST00000567572||G),DOWNSTREAM(MODIFIER||2271||150|CMTM3|protein_coding|CODING|ENST00000564060||G),DOWNSTREAM(MODIFIER||1727||59|CMTM3|protein_coding|CODING|ENST00000565922||G),DOWNSTREAM(MODIFIER||1356||165|CMTM3|nonsense_mediated_decay|CODING|ENST00000566756||G),DOWNSTREAM(MODIFIER||4144||96|CMTM3|protein_coding|CODING|ENST00000565003||G),DOWNSTREAM(MODIFIER||2437||96|CMTM3|protein_coding|CODING|ENST00000568477||G),DOWNSTREAM(MODIFIER||2445||96|CMTM3|protein_coding|CODING|ENST00000566121||G),DOWNSTREAM(MODIFIER||1750|||CMTM3|retained_intron|CODING|ENST00000564247||G),DOWNSTREAM(MODIFIER||1362||140|CMTM4|protein_coding|CODING|ENST00000561680||G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CMTM4|retained_intron|CODING|ENST00000581487|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 66670457 Sibling 63A T C . . Gene=CMTM4;MT=SNP;MM=CM;CADD=18.97;VMM=32.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I72V|234|CMTM4|protein_coding|CODING|ENST00000330687|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I72V|208|CMTM4|protein_coding|CODING|ENST00000394106|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I43V|179|CMTM4|protein_coding|CODING|ENST00000563952|2|C),UPSTREAM(MODIFIER||69||140|CMTM4|protein_coding|CODING|ENST00000561680||C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 12760240 Sibling 63A C T . . Gene=MAN2B1;MT=SNP;MM=CM;CADD=31;VMM=137.09;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGg/cAg|R757Q|1011|MAN2B1|protein_coding|CODING|ENST00000456935|19|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cGg/cAg|R756Q|1010|MAN2B1|protein_coding|CODING|ENST00000221363|19|T),SPLICE_SITE_REGION+EXON(LOW|||||MAN2B1|retained_intron|CODING|ENST00000466794|17|T),UPSTREAM(MODIFIER||1029||197|CTD-2192J16.22|nonsense_mediated_decay|CODING|ENST00000597692||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1842|||MAN2B1|retained_intron|CODING|ENST00000469423||T),UPSTREAM(MODIFIER||2280|||MAN2B1|processed_transcript|CODING|ENST00000480851||T),UPSTREAM(MODIFIER||1753|||MAN2B1|retained_intron|CODING|ENST00000493218||T),DOWNSTREAM(MODIFIER||2766||66|MAN2B1|nonsense_mediated_decay|CODING|ENST00000596591||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2773|||MAN2B1|processed_transcript|CODING|ENST00000595880||T),DOWNSTREAM(MODIFIER||2819|||MAN2B1|processed_transcript|CODING|ENST00000433513||T),DOWNSTREAM(MODIFIER||2829||139|MAN2B1|nonsense_mediated_decay|CODING|ENST00000593686||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 12775773 Sibling 63A A G . . Gene=MAN2B1;MT=SNP;MM=CM;CADD=29.1;VMM=137.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W155R|1011|MAN2B1|protein_coding|CODING|ENST00000456935|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W152R|194|CTD-2192J16.24|protein_coding|CODING|ENST00000597961|5|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W155R|1010|MAN2B1|protein_coding|CODING|ENST00000221363|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W164R|171|MAN2B1|protein_coding|CODING|ENST00000598876|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4744||315|WDR83|protein_coding|CODING|ENST00000242796||G),UPSTREAM(MODIFIER||1541|||MAN2B1|retained_intron|CODING|ENST00000462144||G),UPSTREAM(MODIFIER||1841||315|WDR83|protein_coding|CODING|ENST00000418543||G),UPSTREAM(MODIFIER||1843|||WDR83|retained_intron|CODING|ENST00000546754||G),UPSTREAM(MODIFIER||1855||71|WDR83|nonsense_mediated_decay|CODING|ENST00000548381||G),UPSTREAM(MODIFIER||1871||71|WDR83|nonsense_mediated_decay|CODING|ENST00000553179||G),UPSTREAM(MODIFIER||4594|||WDR83|retained_intron|CODING|ENST00000547255||G),UPSTREAM(MODIFIER||4796||153|WDR83|nonsense_mediated_decay|CODING|ENST00000547481||G),UPSTREAM(MODIFIER||4799|||WDR83|retained_intron|CODING|ENST00000550939||G),UPSTREAM(MODIFIER||4810|||WDR83|retained_intron|CODING|ENST00000551329||G),DOWNSTREAM(MODIFIER||3112||106|WDR83OS|protein_coding|CODING|ENST00000596731||G),DOWNSTREAM(MODIFIER||287|||MAN2B1|retained_intron|CODING|ENST00000600281||G),DOWNSTREAM(MODIFIER||3116||104|WDR83OS|protein_coding|CODING|ENST00000222190||G),DOWNSTREAM(MODIFIER||3186||84|WDR83OS|protein_coding|CODING|ENST00000598732||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||163|MAN2B1|protein_coding|CODING|ENST00000486847|2|G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||MAN2B1|retained_intron|CODING|ENST00000466794|4|G),EXON(MODIFIER|||||MAN2B1|processed_transcript|CODING|ENST00000596512|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 144981222 Sibling 63A T C . . Gene=UTRN;MT=SNP;MM=CM;CADD=12.54;VMM=40.43;EFF=UTR_5_PRIME(MODIFIER||139||65|UTRN|protein_coding|CODING|ENST00000367525|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||3433|UTRN|protein_coding|CODING|ENST00000367545|50|C),INTRON(MODIFIER||||988|UTRN|protein_coding|CODING|ENST00000367526|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 145156944 Sibling 63A T C . . Gene=UTRN;MT=SNP;MM=CM;CADD=29.1;VMM=40.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y3232H|3433|UTRN|protein_coding|CODING|ENST00000367545|69|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y787H|988|UTRN|protein_coding|CODING|ENST00000367526|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y178H|183|UTRN|protein_coding|CODING|ENST00000417142|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y144H|185|UTRN|protein_coding|CODING|ENST00000455022|6|C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||565|||UTRN|processed_transcript|CODING|ENST00000465299||C),UPSTREAM(MODIFIER||3241|||UTRN|processed_transcript|CODING|ENST00000460618||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 27017017 Sibling 63A C T . . Gene=IFT74;MT=SNP;MM=CM;CADD=32;VMM=146.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P301L|600|IFT74|protein_coding|CODING|ENST00000380062|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P301L|600|IFT74|protein_coding|CODING|ENST00000433700|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P301L|600|IFT74|protein_coding|CODING|ENST00000443698|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P301L|372|IFT74|protein_coding|CODING|ENST00000429045|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 27062666 Sibling 63A G A . . Gene=IFT74;MT=SNP;MM=CM;CADD=29.6;VMM=146.69;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V579M|600|IFT74|protein_coding|CODING|ENST00000380062|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V579M|600|IFT74|protein_coding|CODING|ENST00000433700|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V579M|600|IFT74|protein_coding|CODING|ENST00000443698|20|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 47315839 Sibling 64A T G . . Gene=ZNF41;MT=SNP;MM=XL;CADD=16.03;VMM=0;EFF=SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||789|ZNF41|protein_coding|CODING|ENST00000397050|2|G),SPLICE_SITE_ACCEPTOR+INTRON(HIGH||||177|ZNF41|protein_coding|CODING|ENST00000432977|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||779|ZNF41|protein_coding|CODING|ENST00000313116|2|G),INTRON(MODIFIER||||779|ZNF41|protein_coding|CODING|ENST00000377065|2|G),INTRON(MODIFIER|||||ZNF41|processed_transcript|CODING|ENST00000465311|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 54259383 Sibling 64A G A . . Gene=WNK3;MT=SNP;MM=XL;CADD=27;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1567W|1800|WNK3|protein_coding|CODING|ENST00000354646|21|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1520W|1743|WNK3|protein_coding|CODING|ENST00000375169|21|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1567W|1800|WNK3|protein_coding|CODING|ENST00000375159|20|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 100510263 Sibling 64A G A . . Gene=DRP2;MT=SNP;MM=XL;CADD=15.95;VMM=0;EFF=DOWNSTREAM(MODIFIER||3454||353|DRP2|nonsense_mediated_decay|CODING|ENST00000372916||A),INTRON(MODIFIER||||957|DRP2|protein_coding|CODING|ENST00000395209|20|A),INTRON(MODIFIER||||957|DRP2|protein_coding|CODING|ENST00000402866|20|A),INTRON(MODIFIER||||879|DRP2|protein_coding|CODING|ENST00000541709|18|A),INTRON(MODIFIER||||957|DRP2|protein_coding|CODING|ENST00000538510|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 97700514 Sibling 64A G T . . Gene=DPYD;MT=SNP;MM=CM;CADD=22.6;VMM=35.62;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|T779N|1025|DPYD|protein_coding|CODING|ENST00000370192|19|T),INTRON(MODIFIER|||||DPYD-AS1|antisense|NON_CODING|ENST00000422980|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 98039419 Sibling 64A C T . . Gene=DPYD;MT=SNP;MM=CM;CADD=14.03;VMM=35.62;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E412|1025|DPYD|protein_coding|CODING|ENST00000370192|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 103354147 Sibling 64A G C . . Gene=COL11A1;MT=SNP;MM=CM;CADD=23.1;VMM=35.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P1544A|1818|COL11A1|protein_coding|CODING|ENST00000358392|62|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P1532A|1806|COL11A1|protein_coding|CODING|ENST00000370096|62|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P1493A|1767|COL11A1|protein_coding|CODING|ENST00000353414|61|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P1416A|1690|COL11A1|protein_coding|CODING|ENST00000512756|60|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 103491008 Sibling 64A G A . . Gene=COL11A1;MT=SNP;MM=CM;CADD=13.7;VMM=35.41;EFF=INTRON(MODIFIER||||1818|COL11A1|protein_coding|CODING|ENST00000358392|7|A),INTRON(MODIFIER||||1806|COL11A1|protein_coding|CODING|ENST00000370096|7|A),INTRON(MODIFIER||||1767|COL11A1|protein_coding|CODING|ENST00000353414|6|A),INTRON(MODIFIER||||1690|COL11A1|protein_coding|CODING|ENST00000512756|6|A),INTRON(MODIFIER||||568|COL11A1|protein_coding|CODING|ENST00000427239|7|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 55398247 Sibling 64A C T . . Gene=ANKRD55;MT=SNP;MM=CM;CADD=16.52;VMM=59.91;EFF=INTRON(MODIFIER||||614|ANKRD55|protein_coding|CODING|ENST00000341048|11|T),INTRON(MODIFIER||||571|ANKRD55|protein_coding|CODING|ENST00000504958|9|T),INTRON(MODIFIER||||326|ANKRD55|protein_coding|CODING|ENST00000434982|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 55407268 Sibling 64A C T . . Gene=ANKRD55;MT=SNP;MM=CM;CADD=29.8;VMM=59.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S436N|614|ANKRD55|protein_coding|CODING|ENST00000341048|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S393N|571|ANKRD55|protein_coding|CODING|ENST00000504958|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S148N|326|ANKRD55|protein_coding|CODING|ENST00000434982|2|T),NEXT_PROT[antibody-mapping:heterologous_protein_expression_evidence](LOW||||614|ANKRD55|protein_coding|CODING||10|T),DOWNSTREAM(MODIFIER||137|||ANKRD55|processed_transcript|CODING|ENST00000505970||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 15496930 Sibling 64A C T . . Gene=JARID2;MT=SNP;MM=CM;CADD=29.2;VMM=49.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R492C|1246|JARID2|protein_coding|CODING|ENST00000341776|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R320C|1074|JARID2|protein_coding|CODING|ENST00000397311|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R454C|960|JARID2|protein_coding|CODING|ENST00000541660|6|T),UPSTREAM(MODIFIER||4659|||JARID2|processed_transcript|CODING|ENST00000474854||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 15520768 Sibling 64A C CT . . Gene=JARID2;MT=INDEL;MM=CM;CADD=14.57;VMM=49.48;EFF=UTR_3_PRIME(MODIFIER||287||1246|JARID2|protein_coding|CODING|ENST00000341776|18|CT),DOWNSTREAM(MODIFIER||2272||352|DTNBP1|protein_coding|CODING|ENST00000355917||CT),DOWNSTREAM(MODIFIER||172||1074|JARID2|protein_coding|CODING|ENST00000397311||CT),DOWNSTREAM(MODIFIER||2263||351|DTNBP1|protein_coding|CODING|ENST00000344537||CT),DOWNSTREAM(MODIFIER||2269||195|DTNBP1|protein_coding|CODING|ENST00000462989||CT),DOWNSTREAM(MODIFIER||2272||44|DTNBP1|nonsense_mediated_decay|CODING|ENST00000510395||CT),DOWNSTREAM(MODIFIER||2299||208|DTNBP1|nonsense_mediated_decay|CODING|ENST00000515875||CT),DOWNSTREAM(MODIFIER||2305||46|DTNBP1|nonsense_mediated_decay|CODING|ENST00000513680||CT),DOWNSTREAM(MODIFIER||2517||141|DTNBP1|protein_coding|CODING|ENST00000509674||CT|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3025||303|DTNBP1|protein_coding|CODING|ENST00000338950||CT),DOWNSTREAM(MODIFIER||3447||46|DTNBP1|nonsense_mediated_decay|CODING|ENST00000506844||CT),DOWNSTREAM(MODIFIER||3574|||DTNBP1|retained_intron|CODING|ENST00000514651||CT),DOWNSTREAM(MODIFIER||4002||229|DTNBP1|protein_coding|CODING|ENST00000511762||CT|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 64394063 Sibling 65A G A . . Gene=NRXN2;MT=SNP;MM=HR;CADD=19.48;VMM=0;EFF=UPSTREAM(MODIFIER||2595|||NRXN2|retained_intron|CODING|ENST00000464307||A),UPSTREAM(MODIFIER||3795|||NRXN2|processed_transcript|CODING|ENST00000475737||A),DOWNSTREAM(MODIFIER||3814|||NRXN2|processed_transcript|CODING|ENST00000467055||A),DOWNSTREAM(MODIFIER||3895|||NRXN2|processed_transcript|CODING|ENST00000487484||A),INTRON(MODIFIER||||1712|NRXN2|protein_coding|CODING|ENST00000265459|19|A),INTRON(MODIFIER||||666|NRXN2|protein_coding|CODING|ENST00000301894|3|A),INTRON(MODIFIER||||1712|NRXN2|protein_coding|CODING|ENST00000377551|18|A),INTRON(MODIFIER||||1642|NRXN2|protein_coding|CODING|ENST00000377559|17|A),INTRON(MODIFIER||||1705|NRXN2|protein_coding|CODING|ENST00000409571|18|A),INTRON(MODIFIER||||275|NRXN2|protein_coding|CODING|ENST00000423049|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 37400373 Sibling 65A C T . . Gene=ACTR5;MT=SNP;MM=DN;CADD=25.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccg/Tcg|P580S|607|ACTR5|protein_coding|CODING|ENST00000243903|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 96792031 Sibling 65A T G . . Gene=ATG2B;MT=SNP;MM=CM;CADD=11.6;VMM=30.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T798P|2078|ATG2B|protein_coding|CODING|ENST00000359933|15|G),UPSTREAM(MODIFIER||1907|||snoU13|snoRNA|NON_CODING|ENST00000458931||G),UPSTREAM(MODIFIER||1516|||ATG2B|processed_transcript|CODING|ENST00000473234||G),UPSTREAM(MODIFIER||3259|||ATG2B|processed_transcript|CODING|ENST00000488421||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 96798840 Sibling 65A C T . . Gene=ATG2B;MT=SNP;MM=CM;CADD=24.4;VMM=30.51;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Gtg/Atg|V454M|2078|ATG2B|protein_coding|CODING|ENST00000359933|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 137765991 Sibling 66A C A . . Gene=KDM3B;MT=SNP;MM=DN;CADD=27.3;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D1649E|1761|KDM3B|protein_coding|CODING|ENST00000314358|22|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D1305E|1417|KDM3B|protein_coding|CODING|ENST00000394866|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaA|D681E|793|KDM3B|protein_coding|CODING|ENST00000542866|15|A),UTR_3_PRIME(MODIFIER||43946||274|KDM3B|nonsense_mediated_decay|CODING|ENST00000510866|22|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||37114||20|KDM3B|nonsense_mediated_decay|CODING|ENST00000507996|15|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4445|||KDM3B|retained_intron|CODING|ENST00000505756||A),DOWNSTREAM(MODIFIER||2216|||KDM3B|retained_intron|CODING|ENST00000509468||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 12736468 Sibling 66A G A . . Gene=FRMPD4;MT=SNP;MM=XL;CADD=24;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D1175N|1322|FRMPD4|protein_coding|CODING|ENST00000380682|16|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 74372719 Sibling 66A G A . . Gene=LOC283922;MT=SNP;MM=CM;CADD=15.59;VMM=33.97;EFF=UPSTREAM(MODIFIER||3475|||AC009120.6|antisense|NON_CODING|ENST00000561921||A),EXON(MODIFIER|||||RP11-252A24.2|retained_intron|NON_CODING|ENST00000429810|10|A),EXON(MODIFIER|||||RP11-252A24.2|retained_intron|NON_CODING|ENST00000566802|9|A),EXON(MODIFIER|||||RP11-252A24.2|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000563377|10|A),EXON(MODIFIER|||||RP11-252A24.2|retained_intron|NON_CODING|ENST00000565724|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 74383692 Sibling 66A G C . . Gene=LOC283922;MT=SNP;MM=CM;CADD=19.28;VMM=33.97;EFF=UPSTREAM(MODIFIER||4976|||RP11-252A24.2|retained_intron|NON_CODING|ENST00000565724||C),INTRON(MODIFIER|||||RP11-252A24.2|retained_intron|NON_CODING|ENST00000429810|6|C),INTRON(MODIFIER|||||RP11-252A24.2|retained_intron|NON_CODING|ENST00000566802|5|C),EXON(MODIFIER|||||RP11-252A24.2|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000563377|6|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 44060841 Sibling 66A T G . . Gene=MAPT;MT=SNP;MM=CM;CADD=23.3;VMM=68.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V224G|776|MAPT|protein_coding|CODING|ENST00000344290|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V224G|758|MAPT|protein_coding|CODING|ENST00000262410|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V224G|776|MAPT|protein_coding|CODING|ENST00000415613|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTc/gGc|V224G|758|MAPT|protein_coding|CODING|ENST00000571987|5|G),UPSTREAM(MODIFIER||2184|||MAPT|processed_transcript|CODING|ENST00000577017||G),DOWNSTREAM(MODIFIER||2969|||MAPT|retained_intron|CODING|ENST00000572440||G),INTRON(MODIFIER||||412|MAPT|protein_coding|CODING|ENST00000340799|4|G),INTRON(MODIFIER||||316|MAPT|protein_coding|CODING|ENST00000347967|5|G),INTRON(MODIFIER||||441|MAPT|protein_coding|CODING|ENST00000351559|5|G),INTRON(MODIFIER||||410|MAPT|protein_coding|CODING|ENST00000535772|5|G),INTRON(MODIFIER|||||MAPT|processed_transcript|CODING|ENST00000570299|3|G),INTRON(MODIFIER||||352|MAPT|protein_coding|CODING|ENST00000334239|3|G),INTRON(MODIFIER||||383|MAPT|protein_coding|CODING|ENST00000446361|3|G),INTRON(MODIFIER||||412|MAPT|protein_coding|CODING|ENST00000420682|3|G),INTRON(MODIFIER||||410|MAPT|protein_coding|CODING|ENST00000431008|4|G),INTRON(MODIFIER||||441|MAPT|protein_coding|CODING|ENST00000574436|4|G),INTRON(MODIFIER||||341|MAPT|protein_coding|CODING|ENST00000576518|1|G),EXON(MODIFIER|||||MAPT|retained_intron|CODING|ENST00000576238|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 44061140 Sibling 66A AG A . . Gene=MAPT;MT=INDEL;MM=CM;CADD=23;VMM=68.61;EFF=FRAME_SHIFT(HIGH||agg/|R324|776|MAPT|protein_coding|CODING|ENST00000344290|6|A),FRAME_SHIFT(HIGH||agg/|R324|758|MAPT|protein_coding|CODING|ENST00000262410|6|A),FRAME_SHIFT(HIGH||agg/|R324|776|MAPT|protein_coding|CODING|ENST00000415613|5|A),FRAME_SHIFT(HIGH||agg/|R324|758|MAPT|protein_coding|CODING|ENST00000571987|5|A),UPSTREAM(MODIFIER||1884|||MAPT|processed_transcript|CODING|ENST00000577017||A),DOWNSTREAM(MODIFIER||3269|||MAPT|retained_intron|CODING|ENST00000572440||A),INTRON(MODIFIER||||412|MAPT|protein_coding|CODING|ENST00000340799|4|A),INTRON(MODIFIER||||316|MAPT|protein_coding|CODING|ENST00000347967|5|A),INTRON(MODIFIER||||441|MAPT|protein_coding|CODING|ENST00000351559|5|A),INTRON(MODIFIER||||410|MAPT|protein_coding|CODING|ENST00000535772|5|A),INTRON(MODIFIER|||||MAPT|processed_transcript|CODING|ENST00000570299|3|A),INTRON(MODIFIER||||352|MAPT|protein_coding|CODING|ENST00000334239|3|A),INTRON(MODIFIER||||383|MAPT|protein_coding|CODING|ENST00000446361|3|A),INTRON(MODIFIER||||412|MAPT|protein_coding|CODING|ENST00000420682|3|A),INTRON(MODIFIER||||410|MAPT|protein_coding|CODING|ENST00000431008|4|A),INTRON(MODIFIER||||441|MAPT|protein_coding|CODING|ENST00000574436|4|A),INTRON(MODIFIER||||341|MAPT|protein_coding|CODING|ENST00000576518|1|A),EXON(MODIFIER|||||MAPT|retained_intron|CODING|ENST00000576238|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74386842 Sibling 66A T C . . Gene=UBE2O;MT=SNP;MM=CM;CADD=12.13;VMM=45.5;EFF=UTR_3_PRIME(MODIFIER||182||1292|UBE2O|protein_coding|CODING|ENST00000319380|18|C),UTR_3_PRIME(MODIFIER||182||806|UBE2O|protein_coding|CODING|ENST00000587127|10|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2906||470|SPHK1|protein_coding|CODING|ENST00000323374||C),DOWNSTREAM(MODIFIER||4770||4|SPHK1|protein_coding|CODING|ENST00000591651||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2901||384|SPHK1|protein_coding|CODING|ENST00000545180||C),DOWNSTREAM(MODIFIER||3874||151|SPHK1|protein_coding|CODING|ENST00000588682||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2905|||SPHK1|retained_intron|CODING|ENST00000591762||C),DOWNSTREAM(MODIFIER||4292||110|SPHK1|protein_coding|CODING|ENST00000590379||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2901||384|SPHK1|protein_coding|CODING|ENST00000592299||C),DOWNSTREAM(MODIFIER||2901||398|SPHK1|protein_coding|CODING|ENST00000590959||C),DOWNSTREAM(MODIFIER||2904||384|SPHK1|protein_coding|CODING|ENST00000392496||C),DOWNSTREAM(MODIFIER||4200|||SPHK1|retained_intron|CODING|ENST00000587167||C),DOWNSTREAM(MODIFIER||4597|||UBE2O|retained_intron|CODING|ENST00000586409||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 74398726 Sibling 66A C T . . Gene=UBE2O;MT=SNP;MM=CM;CADD=34;VMM=45.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D215N|1292|UBE2O|protein_coding|CODING|ENST00000319380|4|T),UPSTREAM(MODIFIER||3028||806|UBE2O|protein_coding|CODING|ENST00000587127||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3271|||UBE2O|processed_transcript|CODING|ENST00000587581||T),UPSTREAM(MODIFIER||4||187|UBE2O|protein_coding|CODING|ENST00000590658||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586409|4|T),EXON(MODIFIER|||||UBE2O|retained_intron|CODING|ENST00000586505|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33567263 Sibling 66A C T . . Gene=MYH7B;MT=SNP;MM=CM;CADD=9.522;VMM=30.01;EFF=SYNONYMOUS_CODING(LOW|SILENT|acC/acT|T96|1983|MYH7B|protein_coding|CODING|ENST00000262873|4|T),UPSTREAM(MODIFIER||587|||MYH7B|processed_transcript|CODING|ENST00000481922||T),EXON(MODIFIER|||||MYH7B|retained_intron|CODING|ENST00000470929|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 33586968 Sibling 66A G A . . Gene=MYH7B;MT=SNP;MM=CM;CADD=31;VMM=30.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D1476N|1983|MYH7B|protein_coding|CODING|ENST00000262873|34|A),UPSTREAM(MODIFIER||2080||143|MYH7B|protein_coding|CODING|ENST00000433934||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2080||149|MYH7B|protein_coding|CODING|ENST00000435272||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2080||144|MYH7B|protein_coding|CODING|ENST00000446156||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2080||122|MYH7B|protein_coding|CODING|ENST00000453028||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2080||149|MYH7B|protein_coding|CODING|ENST00000456649||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3239||797|TRPC4AP|protein_coding|CODING|ENST00000252015||A),DOWNSTREAM(MODIFIER||3239||789|TRPC4AP|protein_coding|CODING|ENST00000451813||A),DOWNSTREAM(MODIFIER||3580||399|TRPC4AP|protein_coding|CODING|ENST00000539834||A),DOWNSTREAM(MODIFIER||3795||758|TRPC4AP|protein_coding|CODING|ENST00000432634||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32940026 Sibling 66A C T . . Gene=BRD2;MT=SNP;MM=CM;CADD=15.8;VMM=42.28;EFF=UTR_5_PRIME(MODIFIER||650||801|BRD2|protein_coding|CODING|ENST00000374825|2|T),UTR_5_PRIME(MODIFIER||650||801|BRD2|protein_coding|CODING|ENST00000374831|2|T),UTR_5_PRIME(MODIFIER||650||836|BRD2|protein_coding|CODING|ENST00000395289|2|T),UTR_5_PRIME(MODIFIER||650||401|BRD2|nonsense_mediated_decay|CODING|ENST00000495733|2|T),UTR_5_PRIME(MODIFIER||3162||681|BRD2|protein_coding|CODING|ENST00000443797|2|T),UTR_5_PRIME(MODIFIER||650||147|BRD2|nonsense_mediated_decay|CODING|ENST00000482914|2|T),UTR_5_PRIME(MODIFIER||650||551|BRD2|protein_coding|CODING|ENST00000607833|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||481||836|BRD2|protein_coding|CODING|ENST00000395287||T),UPSTREAM(MODIFIER||3805|||HLA-DMA|processed_transcript|CODING|ENST00000464392||T),UPSTREAM(MODIFIER||3155||168|HLA-DMA|protein_coding|CODING|ENST00000422832||T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||835||754|BRD2|protein_coding|CODING|ENST00000449085||T),UPSTREAM(MODIFIER||835||806|BRD2|protein_coding|CODING|ENST00000449025||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3893|||BRD2|retained_intron|CODING|ENST00000464592||T),UPSTREAM(MODIFIER||4164||158|BRD2|protein_coding|CODING|ENST00000606059||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4320||136|BRD2|nonsense_mediated_decay|CODING|ENST00000481259||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1363|||BRD2-IT1|sense_intronic|NON_CODING|ENST00000415875||T),DOWNSTREAM(MODIFIER||108||162|BRD2|protein_coding|CODING|ENST00000496118||T),DOWNSTREAM(MODIFIER||133|||BRD2|processed_transcript|CODING|ENST00000580234||T),DOWNSTREAM(MODIFIER||201|||BRD2|processed_transcript|CODING|ENST00000584808||T),DOWNSTREAM(MODIFIER||198|||BRD2|processed_transcript|CODING|ENST00000581002||T),INTRON(MODIFIER||||294|BRD2|protein_coding|CODING|ENST00000456339|1|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||XXbac-BPG181M17.6|antisense|NON_CODING|ENST00000580587|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 32946119 Sibling 66A G C . . Gene=BRD2;MT=SNP;MM=CM;CADD=23.1;VMM=42.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A599P|836|BRD2|protein_coding|CODING|ENST00000395287|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A599P|801|BRD2|protein_coding|CODING|ENST00000374825|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A599P|801|BRD2|protein_coding|CODING|ENST00000374831|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A599P|836|BRD2|protein_coding|CODING|ENST00000395289|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A479P|681|BRD2|protein_coding|CODING|ENST00000443797|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A552P|754|BRD2|protein_coding|CODING|ENST00000449085|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Cct|A604P|806|BRD2|protein_coding|CODING|ENST00000449025|9|C|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||2940||147|BRD2|nonsense_mediated_decay|CODING|ENST00000482914|11|C),UPSTREAM(MODIFIER||1200|||BRD2|retained_intron|CODING|ENST00000469132||C),UPSTREAM(MODIFIER||1340|||BRD2|retained_intron|CODING|ENST00000482838||C),DOWNSTREAM(MODIFIER||1724||294|BRD2|protein_coding|CODING|ENST00000456339||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||145||401|BRD2|nonsense_mediated_decay|CODING|ENST00000495733||C),DOWNSTREAM(MODIFIER||139||551|BRD2|protein_coding|CODING|ENST00000607833||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||128|||BRD2|retained_intron|CODING|ENST00000464592||C),DOWNSTREAM(MODIFIER||1268||158|BRD2|protein_coding|CODING|ENST00000606059||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||441||136|BRD2|nonsense_mediated_decay|CODING|ENST00000481259||C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||BRD2|retained_intron|CODING|ENST00000463639|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 12059144 Sibling 67A A G . . Gene=MFN2;MT=SNP;MM=DN;CADD=23.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M270V|757|MFN2|protein_coding|CODING|ENST00000235329|8|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|M270V|757|MFN2|protein_coding|CODING|ENST00000444836|7|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 26585946 Sibling 67A C T . . Gene=TBC1D19;MT=SNP;MM=DN;CADD=16.87;VMM=0;EFF=UPSTREAM(MODIFIER||630||116|TBC1D19|protein_coding|CODING|ENST00000513596||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||526|TBC1D19|protein_coding|CODING|ENST00000264866|1|T),INTRON(MODIFIER||||67|TBC1D19|protein_coding|CODING|ENST00000513455|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||266|TBC1D19|protein_coding|CODING|ENST00000512840|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||TBC1D19|processed_transcript|CODING|ENST00000504442|1|T),INTRON(MODIFIER|||||TBC1D19|retained_intron|CODING|ENST00000502873|1|T),INTRON(MODIFIER||||222|TBC1D19|protein_coding|CODING|ENST00000505206|1|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||461|TBC1D19|protein_coding|CODING|ENST00000511789|1|T),INTRON(MODIFIER|||||TBC1D19|processed_transcript|CODING|ENST00000515568|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156354347 Sibling 67A T TC . . Gene=RHBG;MT=INDEL;MM=CM;CADD=34;VMM=123.17;EFF=FRAME_SHIFT(HIGH||tcc/tCcc|S353S?|372|RHBG|protein_coding|CODING|ENST00000255013|10|TC),FRAME_SHIFT(HIGH||tcc/tCcc|S390S?|409|RHBG|protein_coding|CODING|ENST00000400992|9|TC),FRAME_SHIFT(HIGH||tcc/tCcc|S422S?|441|RHBG|protein_coding|CODING|ENST00000368249|9|TC),SPLICE_SITE_DONOR+SPLICE_SITE_REGION+INTRON(HIGH||||457|RHBG|protein_coding|CODING|ENST00000368246|9|TC),UTR_3_PRIME(MODIFIER||9844||97|RHBG|nonsense_mediated_decay|CODING|ENST00000544720|8|TC),UTR_3_PRIME(MODIFIER||9844||97|RHBG|nonsense_mediated_decay|CODING|ENST00000368247|10|TC),UTR_3_PRIME(MODIFIER||6553||153|RHBG|nonsense_mediated_decay|CODING|ENST00000446171|10|TC),UTR_3_PRIME(MODIFIER||9844||96|RHBG|nonsense_mediated_decay|CODING|ENST00000368245|9|TC|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3670|||RP11-139I14.2|lincRNA|NON_CODING|ENST00000451362||TC),DOWNSTREAM(MODIFIER||1807||228|RHBG|protein_coding|CODING|ENST00000537040||TC),DOWNSTREAM(MODIFIER||19||374|RHBG|protein_coding|CODING|ENST00000451864||TC),INTRON(MODIFIER|||||RHBG|processed_transcript|CODING|ENST00000494874|2|TC),EXON(MODIFIER|||||RHBG|retained_intron|CODING|ENST00000466013|9|TC),EXON(MODIFIER|||||RHBG|retained_intron|CODING|ENST00000477000|2|TC) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156354375 Sibling 67A G A . . Gene=RHBG;MT=SNP;MM=CM;CADD=24.7;VMM=123.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D430N|457|RHBG|protein_coding|CODING|ENST00000368246|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G362E|372|RHBG|protein_coding|CODING|ENST00000255013|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G399E|409|RHBG|protein_coding|CODING|ENST00000400992|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G431E|441|RHBG|protein_coding|CODING|ENST00000368249|9|A),UTR_3_PRIME(MODIFIER||9871||97|RHBG|nonsense_mediated_decay|CODING|ENST00000544720|8|A),UTR_3_PRIME(MODIFIER||9871||97|RHBG|nonsense_mediated_decay|CODING|ENST00000368247|10|A),UTR_3_PRIME(MODIFIER||6580||153|RHBG|nonsense_mediated_decay|CODING|ENST00000446171|10|A),UTR_3_PRIME(MODIFIER||9871||96|RHBG|nonsense_mediated_decay|CODING|ENST00000368245|9|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3643|||RP11-139I14.2|lincRNA|NON_CODING|ENST00000451362||A),DOWNSTREAM(MODIFIER||1834||228|RHBG|protein_coding|CODING|ENST00000537040||A),DOWNSTREAM(MODIFIER||46||374|RHBG|protein_coding|CODING|ENST00000451864||A),EXON(MODIFIER|||||RHBG|retained_intron|CODING|ENST00000466013|9|A),EXON(MODIFIER|||||RHBG|processed_transcript|CODING|ENST00000494874|3|A),EXON(MODIFIER|||||RHBG|retained_intron|CODING|ENST00000477000|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 154158180 Sibling 68A G C . . Gene=F8;MT=SNP;MM=XL;CADD=20;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaC/aaG|N1295K|2351|F8|protein_coding|CODING|ENST00000360256|14|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55199469 Sibling 68A GCAAA G . . Gene=RTN4;MT=INDEL;MM=CM;CADD=13.88;VMM=49.52;EFF=UTR_3_PRIME(MODIFIER||819||1192|RTN4|protein_coding|CODING|ENST00000337526|9|G),UTR_3_PRIME(MODIFIER||819||199|RTN4|protein_coding|CODING|ENST00000394609|7|G),UTR_3_PRIME(MODIFIER||819||986|RTN4|protein_coding|CODING|ENST00000405240|9|G),UTR_3_PRIME(MODIFIER||819||986|RTN4|protein_coding|CODING|ENST00000357376|9|G),UTR_3_PRIME(MODIFIER||819||373|RTN4|protein_coding|CODING|ENST00000317610|7|G),UTR_3_PRIME(MODIFIER||819||392|RTN4|protein_coding|CODING|ENST00000357732|8|G),UTR_3_PRIME(MODIFIER||819||986|RTN4|protein_coding|CODING|ENST00000394611|9|G),UTR_3_PRIME(MODIFIER||819||986|RTN4|protein_coding|CODING|ENST00000404909|9|G),DOWNSTREAM(MODIFIER||316||1958|EML6|protein_coding|CODING|ENST00000356458||G),DOWNSTREAM(MODIFIER||1016|||EML6|processed_transcript|CODING|ENST00000490828||G),DOWNSTREAM(MODIFIER||4099|||EML6|processed_transcript|CODING|ENST00000472965||G),DOWNSTREAM(MODIFIER||2002|||EML6|processed_transcript|CODING|ENST00000488611||G),DOWNSTREAM(MODIFIER||313|||EML6|processed_transcript|CODING|ENST00000466608||G),DOWNSTREAM(MODIFIER||251|||RTN4|processed_transcript|CODING|ENST00000486085||G),DOWNSTREAM(MODIFIER||462|||RTN4|processed_transcript|CODING|ENST00000491592||G),DOWNSTREAM(MODIFIER||463|||RTN4|processed_transcript|CODING|ENST00000485749||G),DOWNSTREAM(MODIFIER||480||960|RTN4|protein_coding|CODING|ENST00000354474||G),DOWNSTREAM(MODIFIER||480||345|RTN4|protein_coding|CODING|ENST00000402434||G),DOWNSTREAM(MODIFIER||1179||202|RTN4|protein_coding|CODING|ENST00000438462||G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 55214639 Sibling 68A C G . . Gene=RTN4;MT=SNP;MM=CM;CADD=31;VMM=49.52;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G1070A|1192|RTN4|protein_coding|CODING|ENST00000337526|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G77A|199|RTN4|protein_coding|CODING|ENST00000394609|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G864A|986|RTN4|protein_coding|CODING|ENST00000405240|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G864A|986|RTN4|protein_coding|CODING|ENST00000357376|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G251A|373|RTN4|protein_coding|CODING|ENST00000317610|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G270A|392|RTN4|protein_coding|CODING|ENST00000357732|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G864A|986|RTN4|protein_coding|CODING|ENST00000394611|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G864A|986|RTN4|protein_coding|CODING|ENST00000404909|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G838A|960|RTN4|protein_coding|CODING|ENST00000354474|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G223A|345|RTN4|protein_coding|CODING|ENST00000402434|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G93A|202|RTN4|protein_coding|CODING|ENST00000438462|2|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||RTN4|processed_transcript|CODING|ENST00000486085|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 43195067 Sibling 68A T C . . Gene=ARFGAP3;MT=SNP;MM=CM;CADD=22.9;VMM=42.92;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N504S|516|ARFGAP3|protein_coding|CODING|ENST00000263245|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N432S|444|ARFGAP3|protein_coding|CODING|ENST00000429508|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N460S|472|ARFGAP3|protein_coding|CODING|ENST00000437119|14|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 43195114 Sibling 68A G C . . Gene=ARFGAP3;MT=SNP;MM=CM;CADD=16.12;VMM=42.92;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttG|F488L|516|ARFGAP3|protein_coding|CODING|ENST00000263245|15|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttG|F416L|444|ARFGAP3|protein_coding|CODING|ENST00000429508|13|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttC/ttG|F444L|472|ARFGAP3|protein_coding|CODING|ENST00000437119|14|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 124968243 Sibling 68A T C . . Gene=FER1L6;MT=SNP;MM=CM;CADD=27;VMM=92.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F2S|1857|FER1L6|protein_coding|CODING|ENST00000399018|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F2S|1857|FER1L6|protein_coding|CODING|ENST00000522917|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 125072844 Sibling 68A G A . . Gene=FER1L6;MT=SNP;MM=CM;CADD=24.9;VMM=92.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1014Q|1857|FER1L6|protein_coding|CODING|ENST00000399018|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R1014Q|1857|FER1L6|protein_coding|CODING|ENST00000522917|24|A),EXON(MODIFIER|||||FER1L6-AS2|antisense|NON_CODING|ENST00000520031|2|A),EXON(MODIFIER|||||FER1L6-AS2|antisense|NON_CODING|ENST00000601180|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 10102548 Sibling 69A G A . . Gene=WWC3;MT=SNP;MM=XL;CADD=25.5;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R892Q|1092|WWC3|protein_coding|CODING|ENST00000380861|19|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R892Q|1092|WWC3|protein_coding|CODING|ENST00000454666|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 18260496 Sibling 69A G A . . Gene=SCML2;MT=SNP;MM=XL;CADD=15.57;VMM=0;EFF=UPSTREAM(MODIFIER||1151|||SCML2|processed_transcript|CODING|ENST00000491988||A),INTRON(MODIFIER||||700|SCML2|protein_coding|CODING|ENST00000251900|14|A),INTRON(MODIFIER||||124|SCML2|protein_coding|CODING|ENST00000420857|2|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||345|SCML2|protein_coding|CODING|ENST00000398048|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 123587358 Sibling 69A AATG A . . Gene=TENM1;MT=INDEL;MM=XL;CADD=15.74;VMM=0;EFF=INTRON(MODIFIER||||2732|TENM1|protein_coding|CODING|ENST00000422452|22|A),INTRON(MODIFIER||||2725|TENM1|protein_coding|CODING|ENST00000371130|21|A),INTRON(MODIFIER|||||TENM1|processed_transcript|CODING|ENST00000461429|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 236881155 Sibling 69A C A . . Gene=ACTN2;MT=SNP;MM=CM;CADD=16.2;VMM=52.77;EFF=SPLICE_SITE_REGION+INTRON(LOW||||894|ACTN2|protein_coding|CODING|ENST00000366578|1|A),SPLICE_SITE_REGION+INTRON(LOW||||894|ACTN2|protein_coding|CODING|ENST00000542672|1|A),SPLICE_SITE_REGION+INTRON(LOW|||||ACTN2|processed_transcript|CODING|ENST00000492634|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 236911044 Sibling 69A C T . . Gene=ACTN2;MT=SNP;MM=CM;CADD=27.3;VMM=52.77;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T495M|894|ACTN2|protein_coding|CODING|ENST00000366578|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T495M|894|ACTN2|protein_coding|CODING|ENST00000542672|13|T),START_GAINED(LOW||||388|ACTN2|protein_coding|CODING|ENST00000546208|6|T),UTR_5_PRIME(MODIFIER||1383||388|ACTN2|protein_coding|CODING|ENST00000546208|6|T),DOWNSTREAM(MODIFIER||2975|||ACTN2|processed_transcript|CODING|ENST00000492634||T),DOWNSTREAM(MODIFIER||4823|||ACTN2|processed_transcript|CODING|ENST00000494762||T),EXON(MODIFIER|||||ACTN2|processed_transcript|CODING|ENST00000492101|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 67081218 Sibling 69A C T . . Gene=ABCA6;MT=SNP;MM=CM;CADD=22.9;VMM=90.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gct/Act|A1379T|1617|ABCA6|protein_coding|CODING|ENST00000284425|32|T),DOWNSTREAM(MODIFIER||577|||ABCA6|retained_intron|CODING|ENST00000589482||T),EXON(MODIFIER|||||ABCA6|processed_transcript|CODING|ENST00000446604|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 67081278 Sibling 69A A G . . Gene=ABCA6;MT=SNP;MM=CM;CADD=29.1;VMM=90.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1359R|1617|ABCA6|protein_coding|CODING|ENST00000284425|32|G),DOWNSTREAM(MODIFIER||517|||ABCA6|retained_intron|CODING|ENST00000589482||G),EXON(MODIFIER|||||ABCA6|processed_transcript|CODING|ENST00000446604|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 60905559 Sibling 69A C T . . Gene=LAMA5;MT=SNP;MM=CM;CADD=32;VMM=104.19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1322S|3695|LAMA5|protein_coding|CODING|ENST00000252999|31|T),UPSTREAM(MODIFIER||3872|||LAMA5|processed_transcript|CODING|ENST00000497363||T),DOWNSTREAM(MODIFIER||1984|||MIR4758|miRNA|NON_CODING|ENST00000577688||T),DOWNSTREAM(MODIFIER||3799||38|LAMA5|nonsense_mediated_decay|CODING|ENST00000474128||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 60911398 Sibling 69A G A . . Gene=LAMA5;MT=SNP;MM=CM;CADD=23.2;VMM=104.19;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCc/aTc|T774I|3695|LAMA5|protein_coding|CODING|ENST00000252999|18|A),SPLICE_SITE_REGION(LOW||||38|LAMA5|nonsense_mediated_decay|CODING|ENST00000474128|4|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||565||38|LAMA5|nonsense_mediated_decay|CODING|ENST00000474128|4|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3785|||MIR4758|miRNA|NON_CODING|ENST00000577688||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 154313469 Sibling 70A G A . . Gene=ATP8B2;MT=SNP;MM=DN;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D425N|1223|ATP8B2|protein_coding|CODING|ENST00000368489|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gac/Aac|D411N|461|ATP8B2|protein_coding|CODING|ENST00000341822|12|A),NEXT_PROT[active-site:4-aspartylphosphate_intermediate](LOW||||1223|ATP8B2|protein_coding|CODING||13|A),DOWNSTREAM(MODIFIER||2191|||RNU7-57P|snRNA|NON_CODING|ENST00000459540||A),DOWNSTREAM(MODIFIER||3147||387|ATP8B2|protein_coding|CODING|ENST00000368487||A),EXON(MODIFIER|||||ATP8B2|processed_transcript|CODING|ENST00000426445|13|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 135570100 Sibling 70A G A . . Gene=BRS3;MT=SNP;MM=XL;CADD=16.36;VMM=0;EFF=UTR_5_PRIME(MODIFIER||174||399|BRS3|protein_coding|CODING|ENST00000370648|1|A),DOWNSTREAM(MODIFIER||549|||Z97632.1|miRNA|NON_CODING|ENST00000580943||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 19453743 Sibling 70A T A . . Gene=UBR4;MT=SNP;MM=CM;CADD=18.63;VMM=34.51;EFF=INTRON(MODIFIER||||5204|UBR4|protein_coding|CODING|ENST00000375267|63|A),INTRON(MODIFIER||||5176|UBR4|protein_coding|CODING|ENST00000375217|63|A),INTRON(MODIFIER||||5159|UBR4|protein_coding|CODING|ENST00000375226|63|A),INTRON(MODIFIER||||5183|UBR4|protein_coding|CODING|ENST00000375254|63|A),INTRON(MODIFIER||||983|UBR4|protein_coding|CODING|ENST00000425413|16|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||2057|UBR4|protein_coding|CODING|ENST00000417040|36|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||UBR4|processed_transcript|CODING|ENST00000475973|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 19465954 Sibling 70A G A . . Gene=UBR4;MT=SNP;MM=CM;CADD=16.33;VMM=34.51;EFF=INTRON(MODIFIER||||5204|UBR4|protein_coding|CODING|ENST00000375267|58|A),INTRON(MODIFIER||||5176|UBR4|protein_coding|CODING|ENST00000375217|58|A),INTRON(MODIFIER||||5159|UBR4|protein_coding|CODING|ENST00000375226|58|A),INTRON(MODIFIER||||5183|UBR4|protein_coding|CODING|ENST00000375254|58|A),INTRON(MODIFIER||||983|UBR4|protein_coding|CODING|ENST00000425413|11|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||2057|UBR4|protein_coding|CODING|ENST00000417040|31|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156504308 Sibling 70A G A . . Gene=IQGAP3;MT=SNP;MM=CM;CADD=23;VMM=39.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1242I|1631|IQGAP3|protein_coding|CODING|ENST00000361170|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T1199I|1588|IQGAP3|nonsense_mediated_decay|CODING|ENST00000491900|28|A),DOWNSTREAM(MODIFIER||2315|||IQGAP3|processed_transcript|CODING|ENST00000476565||A),DOWNSTREAM(MODIFIER||2660|||IQGAP3|processed_transcript|CODING|ENST00000498755||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 156510632 Sibling 70A C T . . Gene=IQGAP3;MT=SNP;MM=CM;CADD=15.16;VMM=39.96;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L869|1631|IQGAP3|protein_coding|CODING|ENST00000361170|23|T),SYNONYMOUS_CODING(LOW|SILENT|ttG/ttA|L826|1588|IQGAP3|nonsense_mediated_decay|CODING|ENST00000491900|22|T),UPSTREAM(MODIFIER||1979|||IQGAP3|processed_transcript|CODING|ENST00000476565||T),UPSTREAM(MODIFIER||1375|||IQGAP3|processed_transcript|CODING|ENST00000498755||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 71683706 Sibling 70A T C . . Gene=PHLPP2;MT=SNP;MM=CM;CADD=25.5;VMM=44.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1055C|1358|PHLPP2|protein_coding|CODING|ENST00000567016|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1020C|1323|PHLPP2|protein_coding|CODING|ENST00000568954|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y953C|1256|PHLPP2|protein_coding|CODING|ENST00000393524|17|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y1020C|1323|PHLPP2|protein_coding|CODING|ENST00000356272|18|C),INTRON(MODIFIER||||723|PHLPP2|nonsense_mediated_decay|CODING|ENST00000568004|13|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||166|PHLPP2|protein_coding|CODING|ENST00000540628|6|C),INTRON(MODIFIER||||318|PHLPP2|nonsense_mediated_decay|CODING|ENST00000564884|6|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||956|PHLPP2|protein_coding|CODING|ENST00000360429|17|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 71718538 Sibling 70A TA T . . Gene=PHLPP2;MT=INDEL;MM=CM;CADD=15.03;VMM=44.34;EFF=UPSTREAM(MODIFIER||2782||723|PHLPP2|nonsense_mediated_decay|CODING|ENST00000568004||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1358|PHLPP2|protein_coding|CODING|ENST00000567016|4|T),INTRON(MODIFIER||||956|PHLPP2|protein_coding|CODING|ENST00000360429|3|T),INTRON(MODIFIER||||1323|PHLPP2|protein_coding|CODING|ENST00000568954|4|T),INTRON(MODIFIER||||1256|PHLPP2|protein_coding|CODING|ENST00000393524|3|T),INTRON(MODIFIER||||1323|PHLPP2|protein_coding|CODING|ENST00000356272|3|T),INTRON(MODIFIER|||||PHLPP2|retained_intron|CODING|ENST00000538126|4|T),EXON(MODIFIER|||||PHLPP2|retained_intron|CODING|ENST00000574977|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 159389971 Sibling 70A T C . . Gene=PKP4;MT=SNP;MM=CM;CADD=19.21;VMM=63.17;EFF=SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L52|53|PKP4|nonsense_mediated_decay|CODING|ENST00000457109|3|C),UPSTREAM(MODIFIER||741|||snoZ5|snoRNA|NON_CODING|ENST00000515912||C),INTRON(MODIFIER||||1192|PKP4|protein_coding|CODING|ENST00000389759|2|C),INTRON(MODIFIER||||216|PKP4|nonsense_mediated_decay|CODING|ENST00000426248|2|C),INTRON(MODIFIER||||1149|PKP4|protein_coding|CODING|ENST00000389757|2|C),INTRON(MODIFIER||||46|PKP4|nonsense_mediated_decay|CODING|ENST00000452162|2|C),INTRON(MODIFIER||||95|PKP4|nonsense_mediated_decay|CODING|ENST00000411900|2|C),INTRON(MODIFIER||||216|PKP4|nonsense_mediated_decay|CODING|ENST00000421462|2|C),INTRON(MODIFIER|||||PKP4|processed_transcript|CODING|ENST00000462335|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 159536990 Sibling 70A A T . . Gene=PKP4;MT=SNP;MM=CM;CADD=26.3;VMM=63.17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D1127V|1192|PKP4|protein_coding|CODING|ENST00000389759|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D1084V|1149|PKP4|protein_coding|CODING|ENST00000389757|21|T),UTR_3_PRIME(MODIFIER||55476||216|PKP4|nonsense_mediated_decay|CODING|ENST00000426248|22|T),DOWNSTREAM(MODIFIER||3123|||PKP4|retained_intron|CODING|ENST00000486254||T),INTRON(MODIFIER|||||AC005042.4|antisense|NON_CODING|ENST00000342892|1|T),INTRON(MODIFIER|||||AC005042.4|antisense|NON_CODING|ENST00000442666|1|T),EXON(MODIFIER|||||PKP4|retained_intron|CODING|ENST00000480171|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 40794945 Sibling 70A G C . . Gene=LCA5L;MT=SNP;MM=CM;CADD=23.3;VMM=33.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S265C|670|LCA5L|protein_coding|CODING|ENST00000288350|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S265C|670|LCA5L|protein_coding|CODING|ENST00000380671|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S265C|670|LCA5L|protein_coding|CODING|ENST00000358268|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S265C|288|LCA5L|protein_coding|CODING|ENST00000485895|5|C),UPSTREAM(MODIFIER||2852|||WRB|processed_transcript|CODING|ENST00000476914||C),UPSTREAM(MODIFIER||2900|||WRB|processed_transcript|CODING|ENST00000480690||C),DOWNSTREAM(MODIFIER||221|||LCA5L|processed_transcript|CODING|ENST00000490184||C),DOWNSTREAM(MODIFIER||226||188|LCA5L|protein_coding|CODING|ENST00000418018||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||401|||LCA5L|processed_transcript|CODING|ENST00000466954||C),INTRON(MODIFIER|||||WRB|processed_transcript|CODING|ENST00000478273|1|C),EXON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000484878|6|C),EXON(MODIFIER|||||LCA5L|retained_intron|CODING|ENST00000491625|4|C),EXON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000459939|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 21 40816677 Sibling 70A G A . . Gene=LCA5L;MT=SNP;MM=CM;CADD=13.07;VMM=33.72;EFF=SPLICE_SITE_REGION+INTRON(LOW|||||LCA5L|processed_transcript|CODING|ENST00000490184|1|A),SPLICE_SITE_REGION+INTRON(LOW||||93|LCA5L|protein_coding|CODING|ENST00000438404|1|A|WARNING_TRANSCRIPT_INCOMPLETE),SPLICE_SITE_REGION+INTRON(LOW||||9|LCA5L|protein_coding|CODING|ENST00000451131|1|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||549||670|LCA5L|protein_coding|CODING|ENST00000380671||A),UPSTREAM(MODIFIER||1104||128|SH3BGR|protein_coding|CODING|ENST00000380637||A),UPSTREAM(MODIFIER||1114||128|SH3BGR|protein_coding|CODING|ENST00000380634||A),UPSTREAM(MODIFIER||1124||97|SH3BGR|protein_coding|CODING|ENST00000458295||A),UPSTREAM(MODIFIER||1180||105|SH3BGR|protein_coding|CODING|ENST00000440288||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||1191||128|SH3BGR|protein_coding|CODING|ENST00000380631||A),INTRON(MODIFIER||||670|LCA5L|protein_coding|CODING|ENST00000288350|1|A),INTRON(MODIFIER||||670|LCA5L|protein_coding|CODING|ENST00000358268|1|A),INTRON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000484878|1|A),INTRON(MODIFIER||||288|LCA5L|protein_coding|CODING|ENST00000485895|1|A),INTRON(MODIFIER|||||LCA5L|retained_intron|CODING|ENST00000491625|1|A),INTRON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000459939|1|A),INTRON(MODIFIER||||188|LCA5L|protein_coding|CODING|ENST00000418018|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||LCA5L|processed_transcript|CODING|ENST00000466954|1|A),INTRON(MODIFIER||||106|LCA5L|protein_coding|CODING|ENST00000448288|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||94|LCA5L|protein_coding|CODING|ENST00000434281|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||92|LCA5L|protein_coding|CODING|ENST00000411566|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||68|LCA5L|protein_coding|CODING|ENST00000415863|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||62|LCA5L|protein_coding|CODING|ENST00000426783|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||29|LCA5L|protein_coding|CODING|ENST00000456017|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||LCA5L|retained_intron|CODING|ENST00000480612|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 49949409 Sibling 70A G A . . Gene=MON1A;MT=SNP;MM=CM;CADD=23.4;VMM=33.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R152C|652|MON1A|protein_coding|CODING|ENST00000296473|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R63C|563|MON1A|protein_coding|CODING|ENST00000417270|4|A),DOWNSTREAM(MODIFIER||421|||MON1A|retained_intron|CODING|ENST00000473451||A),INTRON(MODIFIER||||65|CTD-2330K9.3|protein_coding|CODING|ENST00000419183|1|A),INTRON(MODIFIER||||490|MON1A|protein_coding|CODING|ENST00000455683|2|A),INTRON(MODIFIER|||||MON1A|retained_intron|CODING|ENST00000486107|2|A),EXON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000484985|3|A),EXON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000483022|4|A),EXON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000493206|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 49949537 Sibling 70A C T . . Gene=MON1A;MT=SNP;MM=CM;CADD=12.84;VMM=33.13;EFF=DOWNSTREAM(MODIFIER||293|||MON1A|retained_intron|CODING|ENST00000473451||T),INTRON(MODIFIER||||65|CTD-2330K9.3|protein_coding|CODING|ENST00000419183|1|T),INTRON(MODIFIER||||652|MON1A|protein_coding|CODING|ENST00000296473|2|T),INTRON(MODIFIER||||490|MON1A|protein_coding|CODING|ENST00000455683|2|T),INTRON(MODIFIER||||563|MON1A|protein_coding|CODING|ENST00000417270|3|T),INTRON(MODIFIER|||||MON1A|retained_intron|CODING|ENST00000486107|2|T),INTRON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000484985|2|T),INTRON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000483022|3|T),INTRON(MODIFIER|||||MON1A|processed_transcript|CODING|ENST00000493206|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 77491660 Sibling 70A T G . . Gene=SHROOM3;MT=SNP;MM=CM;CADD=15.65;VMM=47.94;EFF=UPSTREAM(MODIFIER||3061|||MIR4450|miRNA|NON_CODING|ENST00000583589||G),INTRON(MODIFIER||||1996|SHROOM3|protein_coding|CODING|ENST00000296043|2|G),INTRON(MODIFIER|||||SHROOM3|processed_transcript|CODING|ENST00000497440|2|G),INTRON(MODIFIER|||||SHROOM3|processed_transcript|CODING|ENST00000469923|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 77660209 Sibling 70A C T . . Gene=SHROOM3;MT=SNP;MM=CM;CADD=26.1;VMM=47.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L295F|1996|SHROOM3|protein_coding|CODING|ENST00000296043|5|T),DOWNSTREAM(MODIFIER||221|||SHROOM3|processed_transcript|CODING|ENST00000481002||T),DOWNSTREAM(MODIFIER||63|||SHROOM3|processed_transcript|CODING|ENST00000473602||T),INTRON(MODIFIER|||||SHROOM3|processed_transcript|CODING|ENST00000469923|3|T),EXON(MODIFIER|||||SHROOM3|retained_intron|CODING|ENST00000486758|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 39816369 Sibling 70A C G . . Gene=DAAM2;MT=SNP;MM=CM;CADD=14.8;VMM=39.16;EFF=UTR_5_PRIME(MODIFIER||7710||132|DAAM2|protein_coding|CODING|ENST00000405961|1|G),INTRON(MODIFIER||||1068|DAAM2|protein_coding|CODING|ENST00000274867|1|G),INTRON(MODIFIER||||1068|DAAM2|protein_coding|CODING|ENST00000398904|1|G),INTRON(MODIFIER||||1067|DAAM2|protein_coding|CODING|ENST00000538976|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 39865007 Sibling 70A T C . . Gene=DAAM2;MT=SNP;MM=CM;CADD=23.2;VMM=39.16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I856T|1068|DAAM2|protein_coding|CODING|ENST00000274867|21|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I856T|1068|DAAM2|protein_coding|CODING|ENST00000398904|21|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I856T|1067|DAAM2|protein_coding|CODING|ENST00000538976|21|C),DOWNSTREAM(MODIFIER||109|||RP11-61I13.3|antisense|NON_CODING|ENST00000437947||C),DOWNSTREAM(MODIFIER||2347||281|MOCS1|nonsense_mediated_decay|CODING|ENST00000373181||C),EXON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000606829|1|C),EXON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000430595|1|C),EXON(MODIFIER|||||RP11-61I13.3|antisense|NON_CODING|ENST00000420293|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 123903732 Sibling 70A C T . . Gene=CNTRL;MT=SNP;MM=CM;CADD=23.7;VMM=63.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R853C|2325|CNTRL|protein_coding|CODING|ENST00000238341|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R853C|2325|CNTRL|protein_coding|CODING|ENST00000373855|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R301C|1773|CNTRL|protein_coding|CODING|ENST00000373850|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R301C|994|CNTRL|protein_coding|CODING|ENST00000373847|7|T),UPSTREAM(MODIFIER||2599||345|CNTRL|protein_coding|CODING|ENST00000431571||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||CNTRL|retained_intron|CODING|ENST00000373851|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 123932039 Sibling 70A C A . . Gene=CNTRL;MT=SNP;MM=CM;CADD=21.4;VMM=63.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A2074D|2325|CNTRL|protein_coding|CODING|ENST00000238341|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A2074D|2325|CNTRL|protein_coding|CODING|ENST00000373855|39|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A1522D|1773|CNTRL|protein_coding|CODING|ENST00000373850|28|A),EXON(MODIFIER|||||CNTRL|processed_transcript|CODING|ENST00000373845|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 6080829 Sibling 71A A AGG . . Gene=VWF;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||ctg/cCCtg|L2495P?|2813|VWF|protein_coding|CODING|ENST00000261405|44|AGG) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 113629204 Sibling 71A A AG . . Gene=C12orf52;MT=INDEL;MM=DN;CADD=23.1;VMM=0;EFF=FRAME_SHIFT(HIGH||aag/aaGg|K155K?|293|RITA1|protein_coding|CODING|ENST00000552495|3|AG),FRAME_SHIFT(HIGH||aag/aaGg|K131K?|269|RITA1|protein_coding|CODING|ENST00000549621|4|AG),FRAME_SHIFT(HIGH||aag/aaGg|K131K?|269|RITA1|protein_coding|CODING|ENST00000548278|4|AG),DOWNSTREAM(MODIFIER||4043||449|IQCD|protein_coding|CODING|ENST00000416617||AG),DOWNSTREAM(MODIFIER||4041||347|IQCD|protein_coding|CODING|ENST00000299732||AG),INTRON(MODIFIER|||||RP11-545P7.4|antisense|NON_CODING|ENST00000552525|1|AG) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 131803156 Sibling 71A G A . . Gene=HS6ST2;MT=SNP;MM=XL;CADD=20.7;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T351I|645|HS6ST2|protein_coding|CODING|ENST00000521489|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T205I|462|HS6ST2|protein_coding|CODING|ENST00000370833|3|A),INTRON(MODIFIER|||||HS6ST2-AS1|antisense|NON_CODING|ENST00000455269|2|A),INTRON(MODIFIER||||605|HS6ST2|protein_coding|CODING|ENST00000370836|3|A),INTRON(MODIFIER||||331|HS6ST2|protein_coding|CODING|ENST00000406696|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 246797101 Sibling 71A A G . . Gene=CNST;MT=SNP;MM=CM;CADD=15.26;VMM=48;EFF=UPSTREAM(MODIFIER||1321|||RP11-452J6.2|processed_pseudogene|NON_CODING|ENST00000449978||G),INTRON(MODIFIER||||725|CNST|protein_coding|CODING|ENST00000366513|4|G),INTRON(MODIFIER|||||CNST|processed_transcript|CODING|ENST00000483271|4|G),INTRON(MODIFIER||||616|CNST|protein_coding|CODING|ENST00000366512|4|G),INTRON(MODIFIER||||137|CNST|protein_coding|CODING|ENST00000366511|3|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 246811208 Sibling 71A C A . . Gene=CNST;MT=SNP;MM=CM;CADD=26.9;VMM=48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Aaa|Q569K|725|CNST|protein_coding|CODING|ENST00000366513|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Caa/Aaa|Q569K|616|CNST|protein_coding|CODING|ENST00000366512|9|A),EXON(MODIFIER|||||CNST|processed_transcript|CODING|ENST00000483271|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27805962 Sibling 71A A G . . Gene=ZNF512;MT=SNP;MM=CM;CADD=18.14;VMM=37.85;EFF=START_GAINED(LOW||||567|ZNF512|protein_coding|CODING|ENST00000355467|1|G),START_GAINED(LOW||||566|ZNF512|protein_coding|CODING|ENST00000379717|1|G),START_GAINED(LOW||||385|ZNF512|protein_coding|CODING|ENST00000556601|1|G),START_GAINED(LOW||||538|ZNF512|protein_coding|CODING|ENST00000416005|1|G),UTR_5_PRIME(MODIFIER||18||567|ZNF512|protein_coding|CODING|ENST00000355467|1|G),UTR_5_PRIME(MODIFIER||18||566|ZNF512|protein_coding|CODING|ENST00000379717|1|G),UTR_5_PRIME(MODIFIER||15151||385|ZNF512|protein_coding|CODING|ENST00000556601|1|G),UTR_5_PRIME(MODIFIER||18||538|ZNF512|protein_coding|CODING|ENST00000416005|1|G),UPSTREAM(MODIFIER||1149|||AC074091.1|miRNA|NON_CODING|ENST00000408604||G),UPSTREAM(MODIFIER||14||490|ZNF512|protein_coding|CODING|ENST00000413371||G),UPSTREAM(MODIFIER||189|||ZNF512|retained_intron|CODING|ENST00000461705||G),DOWNSTREAM(MODIFIER||374||1984|C2orf16|protein_coding|CODING|ENST00000408964||G),EXON(MODIFIER|||||RP11-158I13.2|processed_transcript|NON_CODING|ENST00000505973|1|G),EXON(MODIFIER|||||ZNF512|processed_transcript|CODING|ENST00000494548|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 27826021 Sibling 71A C T . . Gene=ZNF512;MT=SNP;MM=CM;CADD=18.14;VMM=37.85;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S261|567|ZNF512|protein_coding|CODING|ENST00000355467|9|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S260|566|ZNF512|protein_coding|CODING|ENST00000379717|9|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S130|385|ZNF512|protein_coding|CODING|ENST00000556601|7|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S232|538|ZNF512|protein_coding|CODING|ENST00000416005|8|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S184|490|ZNF512|protein_coding|CODING|ENST00000413371|10|T),DOWNSTREAM(MODIFIER||2426|||ZNF512|processed_transcript|CODING|ENST00000494548||T),DOWNSTREAM(MODIFIER||4967|||ZNF512|retained_intron|CODING|ENST00000461705||T),EXON(MODIFIER|||||RP11-158I13.2|processed_transcript|NON_CODING|ENST00000505973|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 89329538 Sibling 71A T A . . Gene=HERC6;MT=SNP;MM=CM;CADD=11.03;VMM=31.59;EFF=DOWNSTREAM(MODIFIER||3361|||HERC6|retained_intron|CODING|ENST00000515365||A),INTRON(MODIFIER||||1022|HERC6|protein_coding|CODING|ENST00000264346|10|A),INTRON(MODIFIER||||986|HERC6|protein_coding|CODING|ENST00000380265|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 89334266 Sibling 71A T C . . Gene=HERC6;MT=SNP;MM=CM;CADD=26.9;VMM=31.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L469P|1022|HERC6|protein_coding|CODING|ENST00000264346|12|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L469P|986|HERC6|protein_coding|CODING|ENST00000380265|12|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 100961806 Sibling 71A G A . . Gene=TBC1D2;MT=SNP;MM=CM;CADD=34;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R871C|917|TBC1D2|protein_coding|CODING|ENST00000375066|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R422C|468|TBC1D2|protein_coding|CODING|ENST00000375063|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R664C|710|TBC1D2|protein_coding|CODING|ENST00000342112|12|A),UTR_3_PRIME(MODIFIER||57||860|TBC1D2|protein_coding|CODING|ENST00000375064|13|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 100962566 Sibling 71A G A . . Gene=TBC1D2;MT=SNP;MM=CM;CADD=35;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R839C|917|TBC1D2|protein_coding|CODING|ENST00000375066|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R390C|468|TBC1D2|protein_coding|CODING|ENST00000375063|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R850C|860|TBC1D2|protein_coding|CODING|ENST00000375064|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R632C|710|TBC1D2|protein_coding|CODING|ENST00000342112|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 32583877 Sibling 72A T C . . Gene=DMD;MT=SNP;MM=XL;CADD=23;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D645G|3685|DMD|protein_coding|CODING|ENST00000357033|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D641G|3681|DMD|protein_coding|CODING|ENST00000378677|16|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D637G|772|DMD|protein_coding|CODING|ENST00000288447|16|C),INTRON(MODIFIER|||||DMD|processed_transcript|CODING|ENST00000488902|2|C),INTRON(MODIFIER||||100|DMD|protein_coding|CODING|ENST00000420596|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||40|DMD|protein_coding|CODING|ENST00000448370|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 48680475 Sibling 72A C T . . Gene=CACNA1G;MT=SNP;MM=CM;CADD=15.48;VMM=34.27;EFF=SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2377|CACNA1G|protein_coding|CODING|ENST00000359106|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2261|CACNA1G|protein_coding|CODING|ENST00000360761|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2343|CACNA1G|protein_coding|CODING|ENST00000354983|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2250|CACNA1G|protein_coding|CODING|ENST00000352832|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2243|CACNA1G|protein_coding|CODING|ENST00000442258|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|1555|CACNA1G|protein_coding|CODING|ENST00000416767|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2306|CACNA1G|protein_coding|CODING|ENST00000502264|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|1753|CACNA1G|nonsense_mediated_decay|CODING|ENST00000503436|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2250|CACNA1G|protein_coding|CODING|ENST00000503485|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|1735|CACNA1G|nonsense_mediated_decay|CODING|ENST00000503607|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|1765|CACNA1G|nonsense_mediated_decay|CODING|ENST00000504076|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2205|CACNA1G|protein_coding|CODING|ENST00000505165|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|1776|CACNA1G|nonsense_mediated_decay|CODING|ENST00000506406|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2366|CACNA1G|protein_coding|CODING|ENST00000507336|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2332|CACNA1G|protein_coding|CODING|ENST00000507510|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2277|CACNA1G|protein_coding|CODING|ENST00000507609|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2194|CACNA1G|protein_coding|CODING|ENST00000507896|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2298|CACNA1G|protein_coding|CODING|ENST00000510115|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2232|CACNA1G|protein_coding|CODING|ENST00000510366|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|1758|CACNA1G|nonsense_mediated_decay|CODING|ENST00000511765|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|1746|CACNA1G|nonsense_mediated_decay|CODING|ENST00000511768|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2273|CACNA1G|protein_coding|CODING|ENST00000512389|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2287|CACNA1G|protein_coding|CODING|ENST00000513689|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2239|CACNA1G|protein_coding|CODING|ENST00000513964|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2291|CACNA1G|protein_coding|CODING|ENST00000514079|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2259|CACNA1G|protein_coding|CODING|ENST00000514181|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2227|CACNA1G|protein_coding|CODING|ENST00000514717|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2284|CACNA1G|protein_coding|CODING|ENST00000515165|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2314|CACNA1G|protein_coding|CODING|ENST00000515411|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2321|CACNA1G|protein_coding|CODING|ENST00000515765|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1362|2266|CACNA1G|protein_coding|CODING|ENST00000429973|21|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L1339|2171|CACNA1G|protein_coding|CODING|ENST00000358244|20|T),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|L177|337|CACNA1G|protein_coding|CODING|ENST00000506520|5|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 48698872 Sibling 72A T A . . Gene=CACNA1G;MT=SNP;MM=CM;CADD=19.58;VMM=34.27;EFF=INTRON(MODIFIER||||2377|CACNA1G|protein_coding|CODING|ENST00000359106|34|A),INTRON(MODIFIER||||2261|CACNA1G|protein_coding|CODING|ENST00000360761|32|A),INTRON(MODIFIER||||2343|CACNA1G|protein_coding|CODING|ENST00000354983|32|A),INTRON(MODIFIER||||2250|CACNA1G|protein_coding|CODING|ENST00000352832|31|A),INTRON(MODIFIER||||2243|CACNA1G|protein_coding|CODING|ENST00000442258|31|A),INTRON(MODIFIER||||2306|CACNA1G|protein_coding|CODING|ENST00000502264|32|A),INTRON(MODIFIER||||1753|CACNA1G|nonsense_mediated_decay|CODING|ENST00000503436|32|A),INTRON(MODIFIER||||2250|CACNA1G|protein_coding|CODING|ENST00000503485|33|A),INTRON(MODIFIER||||1735|CACNA1G|nonsense_mediated_decay|CODING|ENST00000503607|31|A),INTRON(MODIFIER||||1765|CACNA1G|nonsense_mediated_decay|CODING|ENST00000504076|32|A),INTRON(MODIFIER||||2205|CACNA1G|protein_coding|CODING|ENST00000505165|33|A),INTRON(MODIFIER||||1776|CACNA1G|nonsense_mediated_decay|CODING|ENST00000506406|33|A),INTRON(MODIFIER||||2366|CACNA1G|protein_coding|CODING|ENST00000507336|33|A),INTRON(MODIFIER||||2332|CACNA1G|protein_coding|CODING|ENST00000507510|34|A),INTRON(MODIFIER||||2277|CACNA1G|protein_coding|CODING|ENST00000507609|33|A),INTRON(MODIFIER||||2194|CACNA1G|protein_coding|CODING|ENST00000507896|32|A),INTRON(MODIFIER||||2298|CACNA1G|protein_coding|CODING|ENST00000510115|32|A),INTRON(MODIFIER||||2232|CACNA1G|protein_coding|CODING|ENST00000510366|32|A),INTRON(MODIFIER||||1758|CACNA1G|nonsense_mediated_decay|CODING|ENST00000511765|32|A),INTRON(MODIFIER||||1746|CACNA1G|nonsense_mediated_decay|CODING|ENST00000511768|32|A),INTRON(MODIFIER||||2273|CACNA1G|protein_coding|CODING|ENST00000512389|32|A),INTRON(MODIFIER||||2287|CACNA1G|protein_coding|CODING|ENST00000513689|33|A),INTRON(MODIFIER||||2239|CACNA1G|protein_coding|CODING|ENST00000513964|32|A),INTRON(MODIFIER||||2291|CACNA1G|protein_coding|CODING|ENST00000514079|33|A),INTRON(MODIFIER||||2259|CACNA1G|protein_coding|CODING|ENST00000514181|32|A),INTRON(MODIFIER||||2227|CACNA1G|protein_coding|CODING|ENST00000514717|32|A),INTRON(MODIFIER||||2284|CACNA1G|protein_coding|CODING|ENST00000515165|33|A),INTRON(MODIFIER||||2314|CACNA1G|protein_coding|CODING|ENST00000515411|33|A),INTRON(MODIFIER||||2321|CACNA1G|protein_coding|CODING|ENST00000515765|33|A),INTRON(MODIFIER||||2266|CACNA1G|protein_coding|CODING|ENST00000429973|32|A),INTRON(MODIFIER||||2171|CACNA1G|protein_coding|CODING|ENST00000358244|31|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 191795988 Sibling 72A TAGA T . . Gene=GLS;MT=INDEL;MM=CM;CADD=20.1;VMM=45.73;EFF=UPSTREAM(MODIFIER||300|||GLS|processed_transcript|CODING|ENST00000471443||T),DOWNSTREAM(MODIFIER||3870||114|GLS|nonsense_mediated_decay|CODING|ENST00000417154||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3652|||GLS|retained_intron|CODING|ENST00000461965||T),INTRON(MODIFIER||||669|GLS|protein_coding|CODING|ENST00000320717|13|T),INTRON(MODIFIER||||598|GLS|protein_coding|CODING|ENST00000338435|13|T),INTRON(MODIFIER||||169|GLS|protein_coding|CODING|ENST00000409626|2|T),INTRON(MODIFIER||||163|GLS|protein_coding|CODING|ENST00000457316|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||174|GLS|protein_coding|CODING|ENST00000409428|2|T),INTRON(MODIFIER||||103|GLS|protein_coding|CODING|ENST00000409215|2|T),INTRON(MODIFIER||||182|GLS|protein_coding|CODING|ENST00000412247|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 191830268 Sibling 72A CA C . . Gene=GLS;MT=INDEL;MM=CM;CADD=19.21;VMM=45.73;EFF=UTR_3_PRIME(MODIFIER||2557||669|GLS|protein_coding|CODING|ENST00000320717|18|C),DOWNSTREAM(MODIFIER||3491||750|STAT1|protein_coding|CODING|ENST00000361099||C),DOWNSTREAM(MODIFIER||2385||174|GLS|protein_coding|CODING|ENST00000409428||C),DOWNSTREAM(MODIFIER||2373||182|GLS|protein_coding|CODING|ENST00000412247||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4748||750|STAT1|protein_coding|CODING|ENST00000409465||C),INTRON(MODIFIER||||39|STAT1|nonsense_mediated_decay|CODING|ENST00000415035|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 47448214 Sibling 72A G A . . Gene=PTPN23;MT=SNP;MM=CM;CADD=26.8;VMM=35.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E261K|1636|PTPN23|protein_coding|CODING|ENST00000265562|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E135K|1510|PTPN23|protein_coding|CODING|ENST00000431726|8|A),UTR_3_PRIME(MODIFIER||1684||64|PTPN23|nonsense_mediated_decay|CODING|ENST00000602307|8|A),UPSTREAM(MODIFIER||2574|||PTPN23|retained_intron|CODING|ENST00000495653||A),DOWNSTREAM(MODIFIER||332||168|PTPN23|protein_coding|CODING|ENST00000456221||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||PTPN23|retained_intron|CODING|ENST00000477276|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 47452676 Sibling 72A G A . . Gene=PTPN23;MT=SNP;MM=CM;CADD=11.99;VMM=35.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1130S|1636|PTPN23|protein_coding|CODING|ENST00000265562|20|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1004S|1510|PTPN23|protein_coding|CODING|ENST00000431726|19|A),UTR_3_PRIME(MODIFIER||6146||64|PTPN23|nonsense_mediated_decay|CODING|ENST00000602307|19|A),DOWNSTREAM(MODIFIER||2527||1279|SCAP|protein_coding|CODING|ENST00000265565||A),DOWNSTREAM(MODIFIER||4794||168|PTPN23|protein_coding|CODING|ENST00000456221||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4436|||PTPN23|retained_intron|CODING|ENST00000477276||A),DOWNSTREAM(MODIFIER||1120|||PTPN23|retained_intron|CODING|ENST00000495653||A),DOWNSTREAM(MODIFIER||2527||165|SCAP|nonsense_mediated_decay|CODING|ENST00000320017||A),DOWNSTREAM(MODIFIER||2535||1023|SCAP|protein_coding|CODING|ENST00000441517||A),DOWNSTREAM(MODIFIER||2535||886|SCAP|protein_coding|CODING|ENST00000545718||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21603666 Sibling 72A A G . . Gene=DNAH11;MT=SNP;MM=CM;CADD=10.17;VMM=14.15;EFF=DOWNSTREAM(MODIFIER||2602|||DNAH11|retained_intron|CODING|ENST00000483691||G),INTRON(MODIFIER||||4523|DNAH11|protein_coding|CODING|ENST00000328843|5|G),INTRON(MODIFIER||||4516|DNAH11|protein_coding|CODING|ENST00000409508|5|G),INTRON(MODIFIER|||||DNAH11|retained_intron|CODING|ENST00000496218|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21923743 Sibling 72A C A . . Gene=DNAH11;MT=SNP;MM=CM;CADD=12.91;VMM=14.15;EFF=INTRON(MODIFIER||||4523|DNAH11|protein_coding|CODING|ENST00000328843|76|A),INTRON(MODIFIER||||4516|DNAH11|protein_coding|CODING|ENST00000409508|75|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 88396116 Sibling 73A T C . . Gene=SMYD1;MT=SNP;MM=DN;CADD=24.5;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aTt/aCt|I234T|490|SMYD1|protein_coding|CODING|ENST00000419482|6|C),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aTt/aCt|I221T|477|SMYD1|protein_coding|CODING|ENST00000444564|5|C),INTRON(MODIFIER||||103|SMYD1|protein_coding|CODING|ENST00000438570|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 90574347 Sibling 73A G A . . Gene=LIPM;MT=SNP;MM=CM;CADD=13.38;VMM=52.07;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T175|423|LIPM|protein_coding|CODING|ENST00000404743|4|A),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T135|383|LIPM|protein_coding|CODING|ENST00000539337|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 90574980 Sibling 73A AG A . . Gene=LIPM;MT=INDEL;MM=CM;CADD=34;VMM=52.07;EFF=FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||aag/|K237|423|LIPM|protein_coding|CODING|ENST00000404743|5|A),FRAME_SHIFT+SPLICE_SITE_REGION(HIGH||aag/|K197|383|LIPM|protein_coding|CODING|ENST00000539337|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 95470602 Sibling 73A A G . . Gene=FGD6;MT=SNP;MM=CM;CADD=20.1;VMM=56.6;EFF=UTR_3_PRIME(MODIFIER||4694||1430|FGD6|protein_coding|CODING|ENST00000343958|21|G),UPSTREAM(MODIFIER||3123||603|NR2C1|protein_coding|CODING|ENST00000333003||G),UPSTREAM(MODIFIER||3257|||NR2C1|retained_intron|CODING|ENST00000552861||G),UPSTREAM(MODIFIER||3246||467|NR2C1|protein_coding|CODING|ENST00000393101||G),UPSTREAM(MODIFIER||3289||483|NR2C1|protein_coding|CODING|ENST00000330677||G),UPSTREAM(MODIFIER||3316|||NR2C1|processed_transcript|CODING|ENST00000546367||G),UPSTREAM(MODIFIER||3281|||NR2C1|processed_transcript|CODING|ENST00000548966||G),UPSTREAM(MODIFIER||3211|||NR2C1|processed_transcript|CODING|ENST00000551386||G),UPSTREAM(MODIFIER||3323|||NR2C1|retained_intron|CODING|ENST00000549482||G),UPSTREAM(MODIFIER||3809||15|NR2C1|protein_coding|CODING|ENST00000547469||G|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4344||132|FGD6|protein_coding|CODING|ENST00000548069||G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4572||59|FGD6|nonsense_mediated_decay|CODING|ENST00000451107||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 95602805 Sibling 73A C A . . Gene=FGD6;MT=SNP;MM=CM;CADD=22.9;VMM=56.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R752L|1430|FGD6|protein_coding|CODING|ENST00000343958|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R752L|1374|FGD6|protein_coding|CODING|ENST00000546711|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cTc|R752L|1205|FGD6|protein_coding|CODING|ENST00000549499|2|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||73|||FGD6|processed_transcript|CODING|ENST00000550368||A),INTRON(MODIFIER||||59|FGD6|nonsense_mediated_decay|CODING|ENST00000451107|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105183348 Sibling 74A T C . . Gene=PDCD11;MT=SNP;MM=CM;CADD=26.9;VMM=60.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTt/gCt|V899A|1871|PDCD11|protein_coding|CODING|ENST00000369797|19|C),UPSTREAM(MODIFIER||1393|||PDCD11|processed_transcript|CODING|ENST00000490787||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 105187113 Sibling 74A C T . . Gene=PDCD11;MT=SNP;MM=CM;CADD=18.11;VMM=60.06;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1111|1871|PDCD11|protein_coding|CODING|ENST00000369797|21|T),DOWNSTREAM(MODIFIER||2272|||PDCD11|processed_transcript|CODING|ENST00000490787||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 55964778 Sibling 74B C G . . Gene=PRTG;MT=SNP;MM=CM;CADD=22.8;VMM=42.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V636L|1150|PRTG|protein_coding|CODING|ENST00000389286|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V171L|218|PRTG|protein_coding|CODING|ENST00000561465|3|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 56034976 Sibling 74B C G . . Gene=PRTG;MT=SNP;MM=CM;CADD=16.03;VMM=42.41;EFF=UPSTREAM(MODIFIER||3861|||RP11-291H24.1|processed_pseudogene|NON_CODING|ENST00000557862||G),UPSTREAM(MODIFIER||244||21|PRTG|protein_coding|CODING|ENST00000558349||G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1150|PRTG|protein_coding|CODING|ENST00000389286|1|G),INTRON(MODIFIER||||137|PRTG|protein_coding|CODING|ENST00000561292|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 57850505 Sibling 74B C CT . . Gene=SLMAP;MT=INDEL;MM=CM;CADD=18.67;VMM=54.55;EFF=INTRON(MODIFIER||||828|SLMAP|protein_coding|CODING|ENST00000428312|10|CT),INTRON(MODIFIER||||811|SLMAP|protein_coding|CODING|ENST00000295951|11|CT),INTRON(MODIFIER|||||SLMAP|retained_intron|CODING|ENST00000467901|10|CT),INTRON(MODIFIER||||271|SLMAP|protein_coding|CODING|ENST00000416870|10|CT),INTRON(MODIFIER||||811|SLMAP|protein_coding|CODING|ENST00000295952|10|CT),INTRON(MODIFIER||||506|SLMAP|protein_coding|CODING|ENST00000383718|10|CT),INTRON(MODIFIER||||790|SLMAP|protein_coding|CODING|ENST00000449503|10|CT),INTRON(MODIFIER||||169|SLMAP|protein_coding|CODING|ENST00000465203|2|CT|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||SLMAP|processed_transcript|CODING|ENST00000475055|1|CT),INTRON(MODIFIER||||432|SLMAP|protein_coding|CODING|ENST00000416658|1|CT|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 57857390 Sibling 74B A G . . Gene=SLMAP;MT=SNP;MM=CM;CADD=24;VMM=54.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D405G|828|SLMAP|protein_coding|CODING|ENST00000428312|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D388G|811|SLMAP|protein_coding|CODING|ENST00000295951|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D388G|811|SLMAP|protein_coding|CODING|ENST00000295952|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|D112G|169|SLMAP|protein_coding|CODING|ENST00000465203|4|G|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||25218||271|SLMAP|protein_coding|CODING|ENST00000416870|11|G),INTRON(MODIFIER|||||SLMAP|retained_intron|CODING|ENST00000467901|11|G),INTRON(MODIFIER||||506|SLMAP|protein_coding|CODING|ENST00000383718|12|G),INTRON(MODIFIER||||790|SLMAP|protein_coding|CODING|ENST00000449503|10|G),INTRON(MODIFIER|||||SLMAP|processed_transcript|CODING|ENST00000475055|2|G),INTRON(MODIFIER||||432|SLMAP|protein_coding|CODING|ENST00000416658|1|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 41729185 Sibling 74B C A . . Gene=INHBA;MT=SNP;MM=CM;CADD=13.69;VMM=37.36;EFF=UTR_3_PRIME(MODIFIER||63||426|INHBA|protein_coding|CODING|ENST00000242208|3|A),UTR_3_PRIME(MODIFIER||63||426|INHBA|protein_coding|CODING|ENST00000442711|2|A),UPSTREAM(MODIFIER||4329|||INHBA-AS1|antisense|NON_CODING|ENST00000415848||A),UPSTREAM(MODIFIER||4350|||INHBA-AS1|antisense|NON_CODING|ENST00000422822||A),UPSTREAM(MODIFIER||4361|||INHBA-AS1|antisense|NON_CODING|ENST00000420821||A),INTRON(MODIFIER|||||AC005027.3|sense_overlapping|NON_CODING|ENST00000416150|1|A),EXON(MODIFIER|||||INHBA|processed_transcript|CODING|ENST00000464515|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 41739830 Sibling 74B G A . . Gene=INHBA;MT=SNP;MM=CM;CADD=24.3;VMM=37.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P48L|426|INHBA|protein_coding|CODING|ENST00000242208|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P48L|426|INHBA|protein_coding|CODING|ENST00000442711|1|A),INTRON(MODIFIER|||||AC005027.3|sense_overlapping|NON_CODING|ENST00000416150|1|A),INTRON(MODIFIER|||||INHBA-AS1|antisense|NON_CODING|ENST00000415848|1|A),INTRON(MODIFIER|||||INHBA-AS1|antisense|NON_CODING|ENST00000422822|1|A),INTRON(MODIFIER|||||INHBA-AS1|antisense|NON_CODING|ENST00000420821|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 100999807 Sibling 74B A G . . Gene=RGS22;MT=SNP;MM=CM;CADD=25.5;VMM=32.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I1020T|1264|RGS22|protein_coding|CODING|ENST00000360863|21|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I839T|1083|RGS22|protein_coding|CODING|ENST00000523287|19|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTt/aCt|I1008T|1252|RGS22|protein_coding|CODING|ENST00000523437|21|G),EXON(MODIFIER|||||RGS22|retained_intron|CODING|ENST00000517769|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 101075659 Sibling 74B G A . . Gene=RGS22;MT=SNP;MM=CM;CADD=11.87;VMM=32.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P446L|1264|RGS22|protein_coding|CODING|ENST00000360863|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P265L|1083|RGS22|protein_coding|CODING|ENST00000523287|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P434L|1252|RGS22|protein_coding|CODING|ENST00000523437|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCt/cTt|P446L|504|RGS22|nonsense_mediated_decay|CODING|ENST00000519725|8|A),DOWNSTREAM(MODIFIER||2808||135|RGS22|protein_coding|CODING|ENST00000520117||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||268|RGS22|protein_coding|CODING|ENST00000517828|2|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||RGS22|retained_intron|CODING|ENST00000520923|5|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 48125304 Sibling 75A G T . . Gene=ABCC12;MT=SNP;MM=HR;CADD=15.16;VMM=0;EFF=UPSTREAM(MODIFIER||4753|||ABCC12|processed_transcript|CODING|ENST00000532355||T),UPSTREAM(MODIFIER||155|||ABCC12|retained_intron|CODING|ENST00000526251||T),INTRON(MODIFIER||||1359|ABCC12|protein_coding|CODING|ENST00000311303|22|T),INTRON(MODIFIER||||930|ABCC12|nonsense_mediated_decay|CODING|ENST00000534418|20|T),INTRON(MODIFIER||||633|ABCC12|nonsense_mediated_decay|CODING|ENST00000529084|23|T),INTRON(MODIFIER||||633|ABCC12|protein_coding|CODING|ENST00000416054|21|T),INTRON(MODIFIER||||935|ABCC12|protein_coding|CODING|ENST00000448542|21|T),INTRON(MODIFIER||||1009|ABCC12|nonsense_mediated_decay|CODING|ENST00000497206|22|T),INTRON(MODIFIER||||935|ABCC12|nonsense_mediated_decay|CODING|ENST00000529504|21|T),INTRON(MODIFIER||||1009|ABCC12|nonsense_mediated_decay|CODING|ENST00000532494|22|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 8976358 Sibling 75A C T . . Gene=A2ML1;MT=SNP;MM=CM;CADD=22.9;VMM=70.1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R97W|1454|A2ML1|protein_coding|CODING|ENST00000299698|3|T),UPSTREAM(MODIFIER||3049|||A2ML1-AS2|antisense|NON_CODING|ENST00000394240||T),INTRON(MODIFIER|||||A2ML1-AS1|antisense|NON_CODING|ENST00000537288|1|T),EXON(MODIFIER|||||A2ML1|retained_intron|CODING|ENST00000537546|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 9020954 Sibling 75A G A . . Gene=A2ML1;MT=SNP;MM=CM;CADD=23.8;VMM=70.1;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||1454|A2ML1|protein_coding|CODING|ENST00000299698|31|A),SPLICE_SITE_DONOR+INTRON(HIGH||||1004|A2ML1|protein_coding|CODING|ENST00000541459|20|A|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH||||963|A2ML1|protein_coding|CODING|ENST00000539547|20|A),SPLICE_SITE_DONOR+INTRON(HIGH||||181|A2ML1|nonsense_mediated_decay|CODING|ENST00000537475|2|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 48187329 Sibling 75A G A . . Gene=HDAC7;MT=SNP;MM=CM;CADD=23.7;VMM=42.34;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R518W|1014|HDAC7|protein_coding|CODING|ENST00000380610|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R501W|991|HDAC7|protein_coding|CODING|ENST00000080059|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R464W|954|HDAC7|protein_coding|CODING|ENST00000354334|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R484W|974|HDAC7|protein_coding|CODING|ENST00000552960|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R462W|952|HDAC7|protein_coding|CODING|ENST00000427332|13|A),UTR_3_PRIME(MODIFIER||2217||224|HDAC7|nonsense_mediated_decay|CODING|ENST00000477203|10|A),UPSTREAM(MODIFIER||48|||HDAC7|retained_intron|CODING|ENST00000459625||A),UPSTREAM(MODIFIER||4||60|HDAC7|nonsense_mediated_decay|CODING|ENST00000548938||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1542||383|HDAC7|protein_coding|CODING|ENST00000548080||A),UPSTREAM(MODIFIER||1546|||HDAC7|processed_transcript|CODING|ENST00000488927||A),UPSTREAM(MODIFIER||160|||HDAC7|processed_transcript|CODING|ENST00000477937||A),DOWNSTREAM(MODIFIER||1261|||HDAC7|retained_intron|CODING|ENST00000491464||A),DOWNSTREAM(MODIFIER||1290|||HDAC7|retained_intron|CODING|ENST00000463732||A),DOWNSTREAM(MODIFIER||1323||152|HDAC7|nonsense_mediated_decay|CODING|ENST00000485796||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1831||101|HDAC7|nonsense_mediated_decay|CODING|ENST00000425451||A),DOWNSTREAM(MODIFIER||2121||273|HDAC7|protein_coding|CODING|ENST00000430670||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3561||140|HDAC7|protein_coding|CODING|ENST00000422254||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3572||158|HDAC7|protein_coding|CODING|ENST00000440293||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3594||153|HDAC7|protein_coding|CODING|ENST00000447463||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3838||152|HDAC7|protein_coding|CODING|ENST00000434070||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3884||137|HDAC7|protein_coding|CODING|ENST00000421231||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4568||111|HDAC7|protein_coding|CODING|ENST00000450805||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4572||132|HDAC7|protein_coding|CODING|ENST00000417902||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4642||87|HDAC7|protein_coding|CODING|ENST00000433685||A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||HDAC7|retained_intron|CODING|ENST00000470668|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 48189674 Sibling 75A A C . . Gene=HDAC7;MT=SNP;MM=CM;CADD=15.46;VMM=42.34;EFF=UPSTREAM(MODIFIER||2393|||HDAC7|retained_intron|CODING|ENST00000459625||C),UPSTREAM(MODIFIER||2349||60|HDAC7|nonsense_mediated_decay|CODING|ENST00000548938||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3887||383|HDAC7|protein_coding|CODING|ENST00000548080||C),UPSTREAM(MODIFIER||3891|||HDAC7|processed_transcript|CODING|ENST00000488927||C),UPSTREAM(MODIFIER||2505|||HDAC7|processed_transcript|CODING|ENST00000477937||C),UPSTREAM(MODIFIER||287|||HDAC7|retained_intron|CODING|ENST00000491464||C),UPSTREAM(MODIFIER||41|||HDAC7|retained_intron|CODING|ENST00000463732||C),DOWNSTREAM(MODIFIER||1216||140|HDAC7|protein_coding|CODING|ENST00000422254||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1227||158|HDAC7|protein_coding|CODING|ENST00000440293||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1249||153|HDAC7|protein_coding|CODING|ENST00000447463||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1493||152|HDAC7|protein_coding|CODING|ENST00000434070||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1539||137|HDAC7|protein_coding|CODING|ENST00000421231||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2223||111|HDAC7|protein_coding|CODING|ENST00000450805||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2227||132|HDAC7|protein_coding|CODING|ENST00000417902||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2297||87|HDAC7|protein_coding|CODING|ENST00000433685||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2669||77|HDAC7|protein_coding|CODING|ENST00000417107||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2749||50|HDAC7|protein_coding|CODING|ENST00000445237||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1014|HDAC7|protein_coding|CODING|ENST00000380610|9|C),INTRON(MODIFIER||||991|HDAC7|protein_coding|CODING|ENST00000080059|9|C),INTRON(MODIFIER||||954|HDAC7|protein_coding|CODING|ENST00000354334|8|C),INTRON(MODIFIER|||||HDAC7|retained_intron|CODING|ENST00000470668|4|C),INTRON(MODIFIER||||974|HDAC7|protein_coding|CODING|ENST00000552960|8|C),INTRON(MODIFIER||||224|HDAC7|nonsense_mediated_decay|CODING|ENST00000477203|6|C),INTRON(MODIFIER||||952|HDAC7|protein_coding|CODING|ENST00000427332|9|C),INTRON(MODIFIER||||152|HDAC7|nonsense_mediated_decay|CODING|ENST00000485796|4|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||101|HDAC7|nonsense_mediated_decay|CODING|ENST00000425451|4|C),INTRON(MODIFIER||||273|HDAC7|protein_coding|CODING|ENST00000430670|8|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 18971130 Sibling 75A C T . . Gene=UPF1;MT=SNP;MM=CM;CADD=23.7;VMM=44.7;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gCg/gTg|A739V|1129|UPF1|protein_coding|CODING|ENST00000599848|16|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|gCg/gTg|A728V|1118|UPF1|protein_coding|CODING|ENST00000262803|16|T),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||1129|UPF1|protein_coding|CODING||16|T),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||1118|UPF1|protein_coding|CODING||16|T),UPSTREAM(MODIFIER||2612|||UPF1|retained_intron|CODING|ENST00000600689||T),DOWNSTREAM(MODIFIER||4641|||UPF1|retained_intron|CODING|ENST00000594243||T),EXON(MODIFIER|||||UPF1|retained_intron|CODING|ENST00000596842|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 18971194 Sibling 75A C T . . Gene=UPF1;MT=SNP;MM=CM;CADD=16.14;VMM=44.7;EFF=SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y760|1129|UPF1|protein_coding|CODING|ENST00000599848|16|T),SYNONYMOUS_CODING(LOW|SILENT|taC/taT|Y749|1118|UPF1|protein_coding|CODING|ENST00000262803|16|T),UPSTREAM(MODIFIER||2548|||UPF1|retained_intron|CODING|ENST00000600689||T),DOWNSTREAM(MODIFIER||4705|||UPF1|retained_intron|CODING|ENST00000594243||T),EXON(MODIFIER|||||UPF1|retained_intron|CODING|ENST00000596842|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 18023073 Sibling 75B C G . . Gene=MYO15A;MT=SNP;MM=CM;CADD=22.8;VMM=69.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S320W|3530|MYO15A|protein_coding|CODING|ENST00000205890|2|G),EXON(MODIFIER|||||MYO15A|retained_intron|CODING|ENST00000583079|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 18077137 Sibling 75B C T . . Gene=MYO15A;MT=SNP;MM=CM;CADD=23.8;VMM=69.71;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R3465W|3530|MYO15A|protein_coding|CODING|ENST00000205890|65|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R729W|797|MYO15A|protein_coding|CODING|ENST00000418233|23|T),DOWNSTREAM(MODIFIER||2742|||RP11-258F1.1|antisense|NON_CODING|ENST00000583062||T),DOWNSTREAM(MODIFIER||1307|||MYO15A|retained_intron|CODING|ENST00000445289||T),INTRON(MODIFIER||||244|MYO15A|protein_coding|CODING|ENST00000451725|8|T),INTRON(MODIFIER||||257|MYO15A|protein_coding|CODING|ENST00000579848|8|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||119|MYO15A|nonsense_mediated_decay|CODING|ENST00000578575|8|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||RP11-258F1.1|antisense|NON_CODING|ENST00000577847|2|T),EXON(MODIFIER|||||MYO15A|retained_intron|CODING|ENST00000433411|12|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 76421626 Sibling 75B A C . . Gene=DNAH17;MT=SNP;MM=CM;CADD=11.61;VMM=35.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttG|F4337L|4485|DNAH17|protein_coding|CODING|ENST00000389840|80|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTg/tGg|L1521W|1562|DNAH17|nonsense_mediated_decay|CODING|ENST00000591369|27|C|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttG|F4309L|4457|DNAH17|protein_coding|CODING|ENST00000585328|80|C),UPSTREAM(MODIFIER||783||141|AC061992.1|protein_coding|CODING|ENST00000600087||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||991||556|PGS1|protein_coding|CODING|ENST00000262764||C),DOWNSTREAM(MODIFIER||991||50|PGS1|nonsense_mediated_decay|CODING|ENST00000589425||C),DOWNSTREAM(MODIFIER||991||454|PGS1|nonsense_mediated_decay|CODING|ENST00000589426||C),DOWNSTREAM(MODIFIER||1404||421|PGS1|protein_coding|CODING|ENST00000329897||C),DOWNSTREAM(MODIFIER||1404||84|PGS1|nonsense_mediated_decay|CODING|ENST00000588169||C),DOWNSTREAM(MODIFIER||988|||PGS1|processed_transcript|CODING|ENST00000588281||C),DOWNSTREAM(MODIFIER||3634|||PGS1|retained_intron|CODING|ENST00000591996||C),DOWNSTREAM(MODIFIER||431|||PGS1|processed_transcript|CODING|ENST00000586880||C),DOWNSTREAM(MODIFIER||942|||DNAH17|processed_transcript|CODING|ENST00000586850||C),DOWNSTREAM(MODIFIER||1383|||DNAH17|processed_transcript|CODING|ENST00000592192||C),EXON(MODIFIER|||||DNAH17|retained_intron|CODING|ENST00000590227|12|C),EXON(MODIFIER|||||DNAH17|processed_transcript|CODING|ENST00000586052|34|C),EXON(MODIFIER|||||DNAH17|retained_intron|CODING|ENST00000591647|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 76464884 Sibling 75B C T . . Gene=DNAH17;MT=SNP;MM=CM;CADD=28;VMM=35.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E2851K|4485|DNAH17|protein_coding|CODING|ENST00000389840|55|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E65K|1562|DNAH17|nonsense_mediated_decay|CODING|ENST00000591369|2|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E2860K|4457|DNAH17|protein_coding|CODING|ENST00000585328|55|T),EXON(MODIFIER|||||DNAH17|processed_transcript|CODING|ENST00000586052|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 119774577 Sibling 76A G A . . Gene=RAB11FIP2;MT=SNP;MM=HR;CADD=20.3;VMM=0;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cCg/cTg|P457L|532|RAB11FIP2|protein_coding|CODING|ENST00000369199|5|A),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|cCg/cTg|P437L|512|RAB11FIP2|protein_coding|CODING|ENST00000355624|4|A),SPLICE_SITE_REGION+EXON(LOW|||||RAB11FIP2|processed_transcript|CODING|ENST00000476207|1|A),NEXT_PROT[domain:FIP-RBD](LOW||||532|RAB11FIP2|protein_coding|CODING||5|A),NEXT_PROT[domain:FIP-RBD](LOW||||512|RAB11FIP2|protein_coding|CODING||4|A),UPSTREAM(MODIFIER||2421|||RP11-354M20.3|antisense|NON_CODING|ENST00000451610||A),UPSTREAM(MODIFIER||2453|||RP11-354M20.3|antisense|NON_CODING|ENST00000595446||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 67915321 Sibling 76A G T . . Gene=EDC4;MT=SNP;MM=DN;CADD=23.6;VMM=0;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||1401|EDC4|protein_coding|CODING|ENST00000358933|20|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||EDC4|retained_intron|CODING|ENST00000572221|19|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||EDC4|retained_intron|CODING|ENST00000573992|15|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||EDC4|retained_intron|CODING|ENST00000575514|3|T),UPSTREAM(MODIFIER||1043|||CTC-479C5.10|lincRNA|NON_CODING|ENST00000572067||T),UPSTREAM(MODIFIER||3387||165|NRN1L|protein_coding|CODING|ENST00000339176||T),UPSTREAM(MODIFIER||649|||EDC4|retained_intron|CODING|ENST00000575507||T),UPSTREAM(MODIFIER||1031||134|EDC4|protein_coding|CODING|ENST00000577105||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1069||154|EDC4|protein_coding|CODING|ENST00000573985||T),UPSTREAM(MODIFIER||1362||175|EDC4|protein_coding|CODING|ENST00000575033||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3490||87|NRN1L|protein_coding|CODING|ENST00000576758||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4151||87|NRN1L|protein_coding|CODING|ENST00000576147||T),DOWNSTREAM(MODIFIER||3678|||AC040162.1|miRNA|NON_CODING|ENST00000408599||T),DOWNSTREAM(MODIFIER||929|||EDC4|retained_intron|CODING|ENST00000536072||T),DOWNSTREAM(MODIFIER||1639|||EDC4|processed_transcript|CODING|ENST00000574770||T),DOWNSTREAM(MODIFIER||1679|||EDC4|retained_intron|CODING|ENST00000572031||T),DOWNSTREAM(MODIFIER||238|||EDC4|retained_intron|CODING|ENST00000577028||T),DOWNSTREAM(MODIFIER||69|||EDC4|retained_intron|CODING|ENST00000572724||T),EXON(MODIFIER|||||EDC4|retained_intron|CODING|ENST00000576972|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 42559866 Sibling 76A A AT . . Gene=UBR2;MT=INDEL;MM=DN;CADD=15.18;VMM=0;EFF=NEXT_PROT[turn:combinatorial_evidence_used_in_manual_assertion](LOW||||1755|UBR2|protein_coding|CODING||2|AT),NEXT_PROT[turn:combinatorial_evidence_used_in_manual_assertion](LOW||||439|UBR2|protein_coding|CODING||2|AT),INTRON(MODIFIER||||1755|UBR2|protein_coding|CODING|ENST00000372899|2|AT),INTRON(MODIFIER||||439|UBR2|protein_coding|CODING|ENST00000372903|2|AT),INTRON(MODIFIER||||1755|UBR2|protein_coding|CODING|ENST00000372901|2|AT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 147091409 Sibling 76A A G . . Gene=BCL9;MT=SNP;MM=CM;CADD=25.7;VMM=66.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAg/aGg|K483R|1426|BCL9|protein_coding|CODING|ENST00000234739|8|G),DOWNSTREAM(MODIFIER||3707|||BCL9|processed_transcript|CODING|ENST00000473292||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 147093960 Sibling 76A T C . . Gene=BCL9;MT=SNP;MM=CM;CADD=20.5;VMM=66.86;EFF=INTRON(MODIFIER||||1426|BCL9|protein_coding|CODING|ENST00000234739|8|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 208202279 Sibling 76A G A . . Gene=PLXNA2;MT=SNP;MM=CM;CADD=12.86;VMM=38.3;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1778|1894|PLXNA2|protein_coding|CODING|ENST00000367033|30|A),DOWNSTREAM(MODIFIER||2108|||PLXNA2|processed_transcript|CODING|ENST00000480053||A),EXON(MODIFIER|||||PLXNA2|processed_transcript|CODING|ENST00000483048|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 208207871 Sibling 76A C T . . Gene=PLXNA2;MT=SNP;MM=CM;CADD=26.8;VMM=38.3;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A1611T|1894|PLXNA2|protein_coding|CODING|ENST00000367033|27|T),UPSTREAM(MODIFIER||4223|||PLXNA2|processed_transcript|CODING|ENST00000483048||T),UPSTREAM(MODIFIER||2873|||PLXNA2|processed_transcript|CODING|ENST00000480053||T),DOWNSTREAM(MODIFIER||4381|||PLXNA2|processed_transcript|CODING|ENST00000463510||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 30958372 Sibling 76A G A . . Gene=WRN;MT=SNP;MM=CM;CADD=12.71;VMM=41.6;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T663|1432|WRN|protein_coding|CODING|ENST00000298139|18|A),EXON(MODIFIER|||||WRN|retained_intron|CODING|ENST00000521620|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 31012237 Sibling 76A C G . . Gene=WRN;MT=SNP;MM=CM;CADD=29.4;VMM=41.6;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aGa|T1262R|1432|WRN|protein_coding|CODING|ENST00000298139|32|G),EXON(MODIFIER|||||WRN|retained_intron|CODING|ENST00000521620|20|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 46388026 Sibling 76B C T . . Gene=DGKZ;MT=SNP;MM=DN;CADD=29.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R74C|1117|DGKZ|protein_coding|CODING|ENST00000454345|2|T),UPSTREAM(MODIFIER||839|||DGKZ|retained_intron|CODING|ENST00000528173||T),UPSTREAM(MODIFIER||1176||97|DGKZ|protein_coding|CODING|ENST00000524448||T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||945|DGKZ|protein_coding|CODING|ENST00000343674|1|T),INTRON(MODIFIER||||15|DGKZ|protein_coding|CODING|ENST00000525242|1|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||933|DGKZ|protein_coding|CODING|ENST00000532868|1|T),INTRON(MODIFIER||||707|DGKZ|protein_coding|CODING|ENST00000528615|1|T),INTRON(MODIFIER|||||DGKZ|retained_intron|CODING|ENST00000531879|1|T),INTRON(MODIFIER|||||DGKZ|retained_intron|CODING|ENST00000527674|1|T),INTRON(MODIFIER||||895|DGKZ|protein_coding|CODING|ENST00000395574|1|T),INTRON(MODIFIER||||135|DGKZ|nonsense_mediated_decay|CODING|ENST00000524984|1|T),INTRON(MODIFIER||||281|DGKZ|protein_coding|CODING|ENST00000543978|2|T),INTRON(MODIFIER||||934|DGKZ|protein_coding|CODING|ENST00000527911|1|T),INTRON(MODIFIER||||54|DGKZ|nonsense_mediated_decay|CODING|ENST00000533376|1|T),INTRON(MODIFIER||||928|DGKZ|protein_coding|CODING|ENST00000456247|1|T),INTRON(MODIFIER||||929|DGKZ|protein_coding|CODING|ENST00000421244|1|T),INTRON(MODIFIER||||906|DGKZ|protein_coding|CODING|ENST00000318201|1|T),INTRON(MODIFIER|||||DGKZ|processed_transcript|CODING|ENST00000534215|1|T),EXON(MODIFIER|||||DGKZ|processed_transcript|CODING|ENST00000525434|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 77372879 Sibling 76B A G . . Gene=PGK1;MT=SNP;MM=DN;CADD=23.4;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||417|PGK1|protein_coding|CODING||5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N163S|417|PGK1|protein_coding|CODING|ENST00000373316|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N135S|389|PGK1|protein_coding|CODING|ENST00000537456|5|G),DOWNSTREAM(MODIFIER||3538|||PGK1|processed_transcript|CODING|ENST00000477335||G),INTRON(MODIFIER||||281|PGK1|protein_coding|CODING|ENST00000442431|3|G),EXON(MODIFIER|||||PGK1|processed_transcript|CODING|ENST00000491291|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 62253583 Sibling 76B C A . . Gene=INADL;MT=SNP;MM=CM;CADD=27.8;VMM=35.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P336H|1801|INADL|protein_coding|CODING|ENST00000371158|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P336H|1582|INADL|protein_coding|CODING|ENST00000316485|8|A),EXON(MODIFIER|||||INADL|retained_intron|CODING|ENST00000459752|8|A),EXON(MODIFIER|||||INADL|retained_intron|CODING|ENST00000484562|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 62330227 Sibling 76B C T . . Gene=INADL;MT=SNP;MM=CM;CADD=11.79;VMM=35.58;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S919|1801|INADL|protein_coding|CODING|ENST00000371158|20|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S919|1582|INADL|protein_coding|CODING|ENST00000316485|20|T),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|S378|1134|INADL|nonsense_mediated_decay|CODING|ENST00000484937|8|T),EXON(MODIFIER|||||INADL|retained_intron|CODING|ENST00000459752|20|T),EXON(MODIFIER|||||INADL|retained_intron|CODING|ENST00000484562|20|T),EXON(MODIFIER|||||INADL|processed_transcript|CODING|ENST00000488913|1|T),EXON(MODIFIER|||||INADL|processed_transcript|CODING|ENST00000493967|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 64755427 Sibling 76B A G . . Gene=BATF2;MT=SNP;MM=CM;CADD=10.65;VMM=33.21;EFF=UTR_3_PRIME(MODIFIER||1174||274|BATF2|protein_coding|CODING|ENST00000301887|3|G),UTR_3_PRIME(MODIFIER||1174||189|BATF2|protein_coding|CODING|ENST00000435842|2|G),DOWNSTREAM(MODIFIER||829||250|BATF2|protein_coding|CODING|ENST00000527716||G),DOWNSTREAM(MODIFIER||1531||154|BATF2|protein_coding|CODING|ENST00000534177||G|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||BATF2|retained_intron|CODING|ENST00000527454|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 64761931 Sibling 76B C T . . Gene=BATF2;MT=SNP;MM=CM;CADD=29.6;VMM=33.21;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A44T|274|BATF2|protein_coding|CODING|ENST00000301887|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A44T|154|BATF2|protein_coding|CODING|ENST00000534177|2|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||4186||189|BATF2|protein_coding|CODING|ENST00000435842||T),UPSTREAM(MODIFIER||3945|||BATF2|retained_intron|CODING|ENST00000527454||T),UPSTREAM(MODIFIER||4185||250|BATF2|protein_coding|CODING|ENST00000527716||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118425758 Sibling 76B G C . . Gene=IFT46;MT=SNP;MM=CM;CADD=24.9;VMM=45.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P152A|355|IFT46|protein_coding|CODING|ENST00000264020|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P101A|304|IFT46|protein_coding|CODING|ENST00000264021|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P152A|297|IFT46|protein_coding|CODING|ENST00000530872|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P101A|195|IFT46|protein_coding|CODING|ENST00000531939|4|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P101A|193|IFT46|protein_coding|CODING|ENST00000534156|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P152A|158|IFT46|protein_coding|CODING|ENST00000534114|7|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P101A|106|IFT46|protein_coding|CODING|ENST00000528378|6|C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1863||60|IFT46|protein_coding|CODING|ENST00000533918||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1951|||IFT46|retained_intron|CODING|ENST00000530185||C),EXON(MODIFIER|||||IFT46|retained_intron|CODING|ENST00000531201|3|C),EXON(MODIFIER|||||IFT46|retained_intron|CODING|ENST00000525060|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 118431716 Sibling 76B G A . . Gene=IFT46;MT=SNP;MM=CM;CADD=15.7;VMM=45.64;EFF=UPSTREAM(MODIFIER||3345|||IFT46|retained_intron|CODING|ENST00000531201||A),UPSTREAM(MODIFIER||579||195|IFT46|protein_coding|CODING|ENST00000531939||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||355|IFT46|protein_coding|CODING|ENST00000264020|2|A),INTRON(MODIFIER||||304|IFT46|protein_coding|CODING|ENST00000264021|2|A),INTRON(MODIFIER||||297|IFT46|protein_coding|CODING|ENST00000530872|2|A),INTRON(MODIFIER||||193|IFT46|protein_coding|CODING|ENST00000534156|2|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||158|IFT46|protein_coding|CODING|ENST00000534114|2|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||106|IFT46|protein_coding|CODING|ENST00000528378|2|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||60|IFT46|protein_coding|CODING|ENST00000533918|3|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||IFT46|retained_intron|CODING|ENST00000530185|2|A),INTRON(MODIFIER|||||IFT46|processed_transcript|CODING|ENST00000527868|2|A),EXON(MODIFIER|||||RPL5P30|processed_pseudogene|NON_CODING|ENST00000465511|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 149227674 Sibling 77A C T . . Gene=MBD5;MT=SNP;MM=CM;CADD=23.9;VMM=53.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P721L|1727|MBD5|protein_coding|CODING|ENST00000404807|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P721L|1494|MBD5|protein_coding|CODING|ENST00000407073|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P460L|1063|MBD5|protein_coding|CODING|ENST00000416015|1|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 149240765 Sibling 77A G A . . Gene=MBD5;MT=SNP;MM=CM;CADD=18.41;VMM=53.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V869I|1727|MBD5|protein_coding|CODING|ENST00000404807|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V869I|1494|MBD5|protein_coding|CODING|ENST00000407073|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V608I|1063|MBD5|protein_coding|CODING|ENST00000416015|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1920|||MBD5|retained_intron|CODING|ENST00000496893||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 7607741 Sibling 77B C T . . Gene=PNPLA6;MT=SNP;MM=HR;CADD=22.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P495L|1375|PNPLA6|protein_coding|CODING|ENST00000414982|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P447L|1327|PNPLA6|protein_coding|CODING|ENST00000221249|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P447L|1300|PNPLA6|protein_coding|CODING|ENST00000545201|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P447L|1327|PNPLA6|protein_coding|CODING|ENST00000450331|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P486L|1365|PNPLA6|protein_coding|CODING|ENST00000600737|12|T),DOWNSTREAM(MODIFIER||2796||29|CTD-2207O23.10|nonsense_mediated_decay|CODING|ENST00000601870||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2831||133|PNPLA6|protein_coding|CODING|ENST00000601668||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2601||180|PNPLA6|protein_coding|CODING|ENST00000601001||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||2683||152|PNPLA6|protein_coding|CODING|ENST00000600942||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2881||116|PNPLA6|protein_coding|CODING|ENST00000593924||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2697|||PNPLA6|retained_intron|CODING|ENST00000602191||T),DOWNSTREAM(MODIFIER||2146|||PNPLA6|retained_intron|CODING|ENST00000598462||T),DOWNSTREAM(MODIFIER||185||265|PNPLA6|protein_coding|CODING|ENST00000595264||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1223||190|PNPLA6|protein_coding|CODING|ENST00000594551||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PNPLA6|retained_intron|CODING|ENST00000599311|5|T),EXON(MODIFIER|||||PNPLA6|retained_intron|CODING|ENST00000595176|4|T),EXON(MODIFIER|||||PNPLA6|retained_intron|CODING|ENST00000595889|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 30887113 Sibling 77B G A . . Gene=DCDC5;MT=SNP;MM=CM;CADD=17.9;VMM=33.32;EFF=INTRON(MODIFIER||||817|DCDC1|nonsense_mediated_decay|CODING|ENST00000444572|16|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||406|DCDC1|nonsense_mediated_decay|CODING|ENST00000303697|10|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DCDC1|retained_intron|CODING|ENST00000483396|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 30887289 Sibling 77B A T . . Gene=DCDC5;MT=SNP;MM=CM;CADD=16.47;VMM=33.32;EFF=INTRON(MODIFIER||||817|DCDC1|nonsense_mediated_decay|CODING|ENST00000444572|16|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||406|DCDC1|nonsense_mediated_decay|CODING|ENST00000303697|10|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DCDC1|retained_intron|CODING|ENST00000483396|18|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 22624431 Sibling 77B T C . . Gene=C2CD5;MT=SNP;MM=CM;CADD=14.19;VMM=45.81;EFF=INTRON(MODIFIER||||1054|C2CD5|protein_coding|CODING|ENST00000545552|20|C),INTRON(MODIFIER||||1000|C2CD5|protein_coding|CODING|ENST00000333957|19|C),INTRON(MODIFIER||||1042|C2CD5|protein_coding|CODING|ENST00000396028|19|C),INTRON(MODIFIER||||1051|C2CD5|protein_coding|CODING|ENST00000446597|19|C),INTRON(MODIFIER||||1053|C2CD5|protein_coding|CODING|ENST00000536386|20|C),INTRON(MODIFIER||||1051|C2CD5|protein_coding|CODING|ENST00000542676|18|C),INTRON(MODIFIER||||856|C2CD5|protein_coding|CODING|ENST00000544930|20|C),INTRON(MODIFIER||||281|C2CD5|protein_coding|CODING|ENST00000539615|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||C2CD5|retained_intron|CODING|ENST00000540245|2|C),INTRON(MODIFIER|||||C2CD5|processed_transcript|CODING|ENST00000537643|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 22625275 Sibling 77B T C . . Gene=C2CD5;MT=SNP;MM=CM;CADD=28.1;VMM=45.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y718C|1054|C2CD5|protein_coding|CODING|ENST00000545552|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y705C|1000|C2CD5|protein_coding|CODING|ENST00000333957|18|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y696C|1042|C2CD5|protein_coding|CODING|ENST00000396028|18|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y705C|1051|C2CD5|protein_coding|CODING|ENST00000446597|18|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y707C|1053|C2CD5|protein_coding|CODING|ENST00000536386|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y705C|1051|C2CD5|protein_coding|CODING|ENST00000542676|17|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAt/tGt|Y520C|856|C2CD5|protein_coding|CODING|ENST00000544930|19|C),UPSTREAM(MODIFIER||36||281|C2CD5|protein_coding|CODING|ENST00000539615||C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||C2CD5|retained_intron|CODING|ENST00000540245|1|C),EXON(MODIFIER|||||C2CD5|processed_transcript|CODING|ENST00000537643|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42621512 Sibling 77B G A . . Gene=GANC;MT=SNP;MM=CM;CADD=15.63;VMM=60.29;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T503|914|GANC|protein_coding|CODING|ENST00000318010|14|A),DOWNSTREAM(MODIFIER||1819|||GANC|retained_intron|CODING|ENST00000567421||A),EXON(MODIFIER|||||GANC|retained_intron|CODING|ENST00000568953|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 42622844 Sibling 77B C G . . Gene=GANC;MT=SNP;MM=CM;CADD=32;VMM=60.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tGt|S572C|914|GANC|protein_coding|CODING|ENST00000318010|15|G),DOWNSTREAM(MODIFIER||3151|||GANC|retained_intron|CODING|ENST00000567421||G),DOWNSTREAM(MODIFIER||1142|||GANC|retained_intron|CODING|ENST00000568953||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170387886 Sibling 77B G C . . Gene=FASTKD1;MT=SNP;MM=CM;CADD=44;VMM=89.98;EFF=STOP_GAINED(HIGH|NONSENSE|tCa/tGa|S768*|847|FASTKD1|protein_coding|CODING|ENST00000453153|13|C),STOP_GAINED(HIGH|NONSENSE|tCa/tGa|S725*|804|FASTKD1|protein_coding|CODING|ENST00000453929|12|C),EXON(MODIFIER|||||FASTKD1|processed_transcript|CODING|ENST00000490590|2|C),EXON(MODIFIER|||||FASTKD1|processed_transcript|CODING|ENST00000495505|3|C),EXON(MODIFIER|||||FASTKD1|retained_intron|CODING|ENST00000488951|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 170417304 Sibling 77B G A . . Gene=FASTKD1;MT=SNP;MM=CM;CADD=16.02;VMM=89.98;EFF=INTRON(MODIFIER||||847|FASTKD1|protein_coding|CODING|ENST00000453153|4|A),INTRON(MODIFIER||||804|FASTKD1|protein_coding|CODING|ENST00000453929|4|A),INTRON(MODIFIER|||||FASTKD1|retained_intron|CODING|ENST00000487293|1|A),INTRON(MODIFIER||||103|FASTKD1|protein_coding|CODING|ENST00000417376|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||252|FASTKD1|protein_coding|CODING|ENST00000438035|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||275|FASTKD1|protein_coding|CODING|ENST00000445210|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 32617888 Sibling 77B C G . . Gene=NRG1;MT=SNP;MM=CM;CADD=23.3;VMM=109.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T484S|713|NRG1|protein_coding|CODING|ENST00000523534|12|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T378S|480|NRG1|protein_coding|CODING|ENST00000518104|11|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T361S|590|NRG1|protein_coding|CODING|ENST00000519301|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T408S|420|NRG1|protein_coding|CODING|ENST00000523079|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T382S|611|NRG1|protein_coding|CODING|ENST00000287845|10|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T419S|648|NRG1|protein_coding|CODING|ENST00000338921|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T416S|645|NRG1|protein_coding|CODING|ENST00000356819|12|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T408S|637|NRG1|protein_coding|CODING|ENST00000287842|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T411S|462|NRG1|protein_coding|CODING|ENST00000521670|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T411S|640|NRG1|protein_coding|CODING|ENST00000405005|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T254S|483|NRG1|protein_coding|CODING|ENST00000539990|7|G),UTR_3_PRIME(MODIFIER||17652||247|NRG1|protein_coding|CODING|ENST00000341377|12|G),DOWNSTREAM(MODIFIER||3842|||NRG1|retained_intron|CODING|ENST00000522569||G),DOWNSTREAM(MODIFIER||3923||127|NRG1|protein_coding|CODING|ENST00000522402||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3895||134|NRG1|protein_coding|CODING|ENST00000519240||G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 32621630 Sibling 77B C T . . Gene=NRG1;MT=SNP;MM=CM;CADD=33;VMM=109.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R618W|713|NRG1|protein_coding|CODING|ENST00000523534|13|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R495W|590|NRG1|protein_coding|CODING|ENST00000519301|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R516W|611|NRG1|protein_coding|CODING|ENST00000287845|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R553W|648|NRG1|protein_coding|CODING|ENST00000338921|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R550W|645|NRG1|protein_coding|CODING|ENST00000356819|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R542W|637|NRG1|protein_coding|CODING|ENST00000287842|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R545W|640|NRG1|protein_coding|CODING|ENST00000405005|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R388W|483|NRG1|protein_coding|CODING|ENST00000539990|8|T),UTR_3_PRIME(MODIFIER||21394||247|NRG1|protein_coding|CODING|ENST00000341377|13|T),UPSTREAM(MODIFIER||2013|||RP11-1002K11.1|lincRNA|NON_CODING|ENST00000607314||T),DOWNSTREAM(MODIFIER||90||480|NRG1|protein_coding|CODING|ENST00000518104||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3123||420|NRG1|protein_coding|CODING|ENST00000523079||T),DOWNSTREAM(MODIFIER||114||462|NRG1|protein_coding|CODING|ENST00000521670||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 248903118 Sibling 78A A G . . Gene=LYPD8;MT=SNP;MM=DN;CADD=21.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C11R|78|LYPD8|protein_coding|CODING|ENST00000590317|1|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 33979917 Sibling 78A T C . . Gene=CSMD2;MT=SNP;MM=CM;CADD=21.6;VMM=38.44;EFF=UTR_3_PRIME(MODIFIER||5201||3631|CSMD2|protein_coding|CODING|ENST00000373381|71|C),UTR_3_PRIME(MODIFIER||5201||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|70|C),UPSTREAM(MODIFIER||1574|||RP4-580O19.2|processed_pseudogene|NON_CODING|ENST00000424879||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 34407377 Sibling 78A T C . . Gene=CSMD2;MT=SNP;MM=CM;CADD=15.55;VMM=38.44;EFF=INTRON(MODIFIER||||3631|CSMD2|protein_coding|CODING|ENST00000373381|3|C),INTRON(MODIFIER||||3487|CSMD2|nonsense_mediated_decay|CODING|ENST00000241312|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 54856183 Sibling 78A C T . . Gene=SPTBN1;MT=SNP;MM=CM;CADD=26.1;VMM=40.24;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R638C|2364|SPTBN1|protein_coding|CODING|ENST00000356805|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R638C|689|SPTBN1|protein_coding|CODING|ENST00000389980|14|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R625C|2155|SPTBN1|protein_coding|CODING|ENST00000333896|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 54888538 Sibling 78A G C . . Gene=SPTBN1;MT=SNP;MM=CM;CADD=13.66;VMM=40.24;EFF=UTR_3_PRIME(MODIFIER||1315||2155|SPTBN1|protein_coding|CODING|ENST00000333896|31|C),UPSTREAM(MODIFIER||1500|||SPTBN1|retained_intron|CODING|ENST00000467371||C),DOWNSTREAM(MODIFIER||1111|||SPTBN1|retained_intron|CODING|ENST00000496323||C),INTRON(MODIFIER||||2364|SPTBN1|protein_coding|CODING|ENST00000356805|32|C),INTRON(MODIFIER|||||AC093110.3|antisense|NON_CODING|ENST00000456363|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149922616 Sibling 78A C G . . Gene=NDST1;MT=SNP;MM=CM;CADD=15.71;VMM=44.23;EFF=DOWNSTREAM(MODIFIER||536|||snoU13|snoRNA|NON_CODING|ENST00000459561||G),INTRON(MODIFIER||||882|NDST1|protein_coding|CODING|ENST00000261797|10|G),INTRON(MODIFIER||||825|NDST1|protein_coding|CODING|ENST00000523767|10|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 149927922 Sibling 78A G A . . Gene=NDST1;MT=SNP;MM=CM;CADD=24.2;VMM=44.23;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R763H|882|NDST1|protein_coding|CODING|ENST00000261797|12|A),UPSTREAM(MODIFIER||4671|||snoU13|snoRNA|NON_CODING|ENST00000459561||A),UPSTREAM(MODIFIER||4201|||NDST1|processed_transcript|CODING|ENST00000521752||A),INTRON(MODIFIER||||825|NDST1|protein_coding|CODING|ENST00000523767|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 29595232 Sibling 78A A C . . Gene=GABBR1;MT=SNP;MM=CM;CADD=16.79;VMM=32.73;EFF=UPSTREAM(MODIFIER||4886|||GABBR1|retained_intron|CODING|ENST00000494634||C),UPSTREAM(MODIFIER||3194|||GABBR1|retained_intron|CODING|ENST00000477029||C),DOWNSTREAM(MODIFIER||31||193|GABBR1|nonsense_mediated_decay|CODING|ENST00000489385||C),DOWNSTREAM(MODIFIER||2444|||GABBR1|retained_intron|CODING|ENST00000467259||C),DOWNSTREAM(MODIFIER||3008||155|GABBR1|protein_coding|CODING|ENST00000462632||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3092||132|GABBR1|protein_coding|CODING|ENST00000476670||C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||961|GABBR1|protein_coding|CODING|ENST00000377034|6|C),INTRON(MODIFIER||||844|GABBR1|protein_coding|CODING|ENST00000355973|1|C),INTRON(MODIFIER||||131|GABBR1|nonsense_mediated_decay|CODING|ENST00000472823|5|C),INTRON(MODIFIER||||578|GABBR1|protein_coding|CODING|ENST00000376977|6|C),INTRON(MODIFIER||||899|GABBR1|protein_coding|CODING|ENST00000377016|5|C),INTRON(MODIFIER||||844|GABBR1|protein_coding|CODING|ENST00000377012|1|C),INTRON(MODIFIER||||137|GABBR1|nonsense_mediated_decay|CODING|ENST00000491829|6|C),INTRON(MODIFIER||||578|GABBR1|nonsense_mediated_decay|CODING|ENST00000494877|5|C),INTRON(MODIFIER||||97|GABBR1|nonsense_mediated_decay|CODING|ENST00000485508|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 29600810 Sibling 78A A C . . Gene=GABBR1;MT=SNP;MM=CM;CADD=17.28;VMM=32.73;EFF=UTR_5_PRIME(MODIFIER||648||961|GABBR1|protein_coding|CODING|ENST00000377034|1|C),UTR_5_PRIME(MODIFIER||648||131|GABBR1|nonsense_mediated_decay|CODING|ENST00000472823|1|C),UTR_5_PRIME(MODIFIER||648||578|GABBR1|protein_coding|CODING|ENST00000376977|1|C),UTR_5_PRIME(MODIFIER||648||899|GABBR1|protein_coding|CODING|ENST00000377016|1|C),UPSTREAM(MODIFIER||4995||844|GABBR1|protein_coding|CODING|ENST00000355973||C),UPSTREAM(MODIFIER||4981||844|GABBR1|protein_coding|CODING|ENST00000377012||C),UPSTREAM(MODIFIER||99||137|GABBR1|nonsense_mediated_decay|CODING|ENST00000491829||C),UPSTREAM(MODIFIER||648||578|GABBR1|nonsense_mediated_decay|CODING|ENST00000494877||C),UPSTREAM(MODIFIER||524||97|GABBR1|nonsense_mediated_decay|CODING|ENST00000485508||C),UPSTREAM(MODIFIER||574||193|GABBR1|nonsense_mediated_decay|CODING|ENST00000489385||C),UPSTREAM(MODIFIER||251||132|GABBR1|protein_coding|CODING|ENST00000476670||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3027|||SUMO2P1|processed_pseudogene|NON_CODING|ENST00000445436||C),INTRON(MODIFIER||||155|GABBR1|protein_coding|CODING|ENST00000462632|1|C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||GABBR1|retained_intron|CODING|ENST00000467259|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 99891236 Sibling 78B T C . . Gene=CMSS1;MT=SNP;MM=DN;CADD=29.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L219P|279|CMSS1|protein_coding|CODING|ENST00000421999|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L201P|261|CMSS1|protein_coding|CODING|ENST00000489081|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTt/cCt|L175P|224|CMSS1|protein_coding|CODING|ENST00000478909|7|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_3_PRIME(MODIFIER||30810||38|CMSS1|nonsense_mediated_decay|CODING|ENST00000491299|9|C),UPSTREAM(MODIFIER||3846|||CMSS1|processed_transcript|CODING|ENST00000494412||C),DOWNSTREAM(MODIFIER||65|||CMSS1|retained_intron|CODING|ENST00000479555||C),INTRON(MODIFIER||||81|CMSS1|protein_coding|CODING|ENST00000497345|3|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 12595237 Sibling 78B G A . . Gene=CAMK1D;MT=SNP;MM=CM;CADD=23.9;VMM=35.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E36K|385|CAMK1D|protein_coding|CODING|ENST00000378847|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E36K|357|CAMK1D|protein_coding|CODING|ENST00000378845|2|A),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||357|CAMK1D|protein_coding|CODING||2|A),INTRON(MODIFIER|||||CAMK1D|processed_transcript|CODING|ENST00000487696|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 12595329 Sibling 78B A G . . Gene=CAMK1D;MT=SNP;MM=CM;CADD=13.38;VMM=35.66;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I66M|385|CAMK1D|protein_coding|CODING|ENST00000378847|2|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atA/atG|I66M|357|CAMK1D|protein_coding|CODING|ENST00000378845|2|G),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||357|CAMK1D|protein_coding|CODING||2|G),INTRON(MODIFIER|||||CAMK1D|processed_transcript|CODING|ENST00000487696|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 46332586 Sibling 78B A T . . Gene=CREB3L1;MT=SNP;MM=CM;CADD=26.9;VMM=82.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gTc|D200V|519|CREB3L1|protein_coding|CODING|ENST00000288400|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gTc|D200V|519|CREB3L1|protein_coding|CODING|ENST00000529193|5|T),UPSTREAM(MODIFIER||122||123|CREB3L1|protein_coding|CODING|ENST00000530518||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4444|||CREB3L1|processed_transcript|CODING|ENST00000534616||T),UPSTREAM(MODIFIER||4626|||CREB3L1|retained_intron|CODING|ENST00000530244||T),DOWNSTREAM(MODIFIER||3096||104|CREB3L1|protein_coding|CODING|ENST00000534787||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||CREB3L1|retained_intron|CODING|ENST00000527342|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 46342060 Sibling 78B A C . . Gene=CREB3L1;MT=SNP;MM=CM;CADD=23;VMM=82.4;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K502Q|519|CREB3L1|protein_coding|CODING|ENST00000288400|11|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K502Q|519|CREB3L1|protein_coding|CODING|ENST00000529193|11|C),DOWNSTREAM(MODIFIER||210|||CREB3L1|processed_transcript|CODING|ENST00000534616||C),EXON(MODIFIER|||||CREB3L1|retained_intron|CODING|ENST00000530244|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 23909676 Sibling 78B A C . . Gene=SACS;MT=SNP;MM=CM;CADD=26.1;VMM=108.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tGt|F2780C|4579|SACS|protein_coding|CODING|ENST00000382292|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tGt|F2030C|3829|SACS|protein_coding|CODING|ENST00000402364|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tGt|F2780C|4579|SACS|protein_coding|CODING|ENST00000382298|10|C),INTRON(MODIFIER||||731|SACS|protein_coding|CODING|ENST00000455470|6|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||374|SACS|protein_coding|CODING|ENST00000423156|2|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 23929288 Sibling 78B G A . . Gene=SACS;MT=SNP;MM=CM;CADD=29.1;VMM=108.27;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P488L|4579|SACS|protein_coding|CODING|ENST00000382292|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P488L|4579|SACS|protein_coding|CODING|ENST00000382298|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P387L|731|SACS|protein_coding|CODING|ENST00000455470|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P112L|374|SACS|protein_coding|CODING|ENST00000423156|1|A|WARNING_TRANSCRIPT_NO_START_CODON),START_GAINED(LOW||||3829|SACS|protein_coding|CODING|ENST00000402364|6|A),UTR_5_PRIME(MODIFIER||13524||3829|SACS|protein_coding|CODING|ENST00000402364|6|A),UPSTREAM(MODIFIER||259|||SACS|processed_transcript|CODING|ENST00000476776||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 11794372 Sibling 78B G A . . Gene=TXNDC11;MT=SNP;MM=CM;CADD=33;VMM=140.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A308V|985|TXNDC11|protein_coding|CODING|ENST00000356957|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A281V|958|TXNDC11|protein_coding|CODING|ENST00000283033|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A86V|204|TXNDC11|protein_coding|CODING|ENST00000575591|3|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||21097||147|TXNDC11|nonsense_mediated_decay|CODING|ENST00000576969|5|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||21097||24|TXNDC11|nonsense_mediated_decay|CODING|ENST00000571882|4|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||TXNDC11|processed_transcript|CODING|ENST00000573174|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 11830058 Sibling 78B G A . . Gene=TXNDC11;MT=SNP;MM=CM;CADD=27.9;VMM=140.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P96S|985|TXNDC11|protein_coding|CODING|ENST00000356957|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P96S|958|TXNDC11|protein_coding|CODING|ENST00000283033|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P35S|147|TXNDC11|nonsense_mediated_decay|CODING|ENST00000576969|2|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||72||204|TXNDC11|protein_coding|CODING|ENST00000575591||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2203||24|TXNDC11|nonsense_mediated_decay|CODING|ENST00000571882||A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||TXNDC11|processed_transcript|CODING|ENST00000573174|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 102788272 Sibling 79A C T . . Gene=IL1R1;MT=SNP;MM=DN;CADD=36;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|569|IL1R1|protein_coding|CODING|ENST00000233946|7|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|538|IL1R1|protein_coding|CODING|ENST00000409929|8|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|447|IL1R1|protein_coding|CODING|ENST00000424272|8|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|447|IL1R1|protein_coding|CODING|ENST00000409329|8|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q101*|297|IL1R1|protein_coding|CODING|ENST00000428279|7|T|WARNING_TRANSCRIPT_INCOMPLETE),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|447|IL1R1|protein_coding|CODING|ENST00000409288|8|T),STOP_GAINED(HIGH|NONSENSE|Caa/Taa|Q245*|569|IL1R1|protein_coding|CODING|ENST00000410023|8|T),UTR_3_PRIME(MODIFIER||5636||119|IL1R1|nonsense_mediated_decay|CODING|ENST00000413623|6|T),UTR_3_PRIME(MODIFIER||5636||123|IL1R1|nonsense_mediated_decay|CODING|ENST00000422532|5|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||809|||AC007271.3|antisense|NON_CODING|ENST00000428188||T),INTRON(MODIFIER||||173|IL1R1|protein_coding|CODING|ENST00000409589|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 43627023 Sibling 79A G A . . Gene=SPATA31A6;MT=SNP;MM=HM;CADD=20.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cTc|P555L|1343|SPATA31A6|protein_coding|CODING|ENST00000332857|4|A),DOWNSTREAM(MODIFIER||746|||SPATA31A6|processed_transcript|CODING|ENST00000496386||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 183441336 Sibling 79A C G . . Gene=SMG7;MT=SNP;MM=CM;CADD=11.99;VMM=30.32;EFF=UPSTREAM(MODIFIER||455|||SMG7-AS1|lincRNA|NON_CODING|ENST00000421703||G),UPSTREAM(MODIFIER||302||1178|SMG7|protein_coding|CODING|ENST00000507469||G),UPSTREAM(MODIFIER||472|||SMG7-AS1|lincRNA|NON_CODING|ENST00000432837||G),UPSTREAM(MODIFIER||15||184|SMG7|nonsense_mediated_decay|CODING|ENST00000440812||G),UPSTREAM(MODIFIER||170||1049|SMG7|protein_coding|CODING|ENST00000456731||G),UPSTREAM(MODIFIER||277||1170|SMG7|protein_coding|CODING|ENST00000367537||G),UPSTREAM(MODIFIER||299||78|SMG7|protein_coding|CODING|ENST00000507691||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||299||1145|SMG7|protein_coding|CODING|ENST00000508461||G),UPSTREAM(MODIFIER||301||73|SMG7|nonsense_mediated_decay|CODING|ENST00000444547||G),UPSTREAM(MODIFIER||301||755|SMG7|protein_coding|CODING|ENST00000419169||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||301||1137|SMG7|protein_coding|CODING|ENST00000347615||G),UPSTREAM(MODIFIER||326||1091|SMG7|protein_coding|CODING|ENST00000515829||G),UPSTREAM(MODIFIER||366|||SMG7|retained_intron|CODING|ENST00000367538||G),UPSTREAM(MODIFIER||731||55|SMG7|protein_coding|CODING|ENST00000502375||G|WARNING_TRANSCRIPT_INCOMPLETE),INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 183495812 Sibling 79A A G . . Gene=SMG7;MT=SNP;MM=CM;CADD=23.3;VMM=30.32;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K132E|1178|SMG7|protein_coding|CODING|ENST00000507469|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K132E|184|SMG7|nonsense_mediated_decay|CODING|ENST00000440812|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K90E|1049|SMG7|protein_coding|CODING|ENST00000456731|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K161E|1170|SMG7|protein_coding|CODING|ENST00000367537|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K90E|1145|SMG7|protein_coding|CODING|ENST00000508461|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K90E|755|SMG7|protein_coding|CODING|ENST00000419169|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K132E|1137|SMG7|protein_coding|CODING|ENST00000347615|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K132E|1091|SMG7|protein_coding|CODING|ENST00000515829|5|G),UTR_3_PRIME(MODIFIER||9009||73|SMG7|nonsense_mediated_decay|CODING|ENST00000444547|5|G),DOWNSTREAM(MODIFIER||31||78|SMG7|protein_coding|CODING|ENST00000507691||G|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||SMG7|processed_transcript|CODING|ENST00000507406|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 201886668 Sibling 79A GAGCCAGTCACAATTTAGGAGACAGGAAAGA G . . Gene=FAM126B;MT=INDEL;MM=CM;CADD=14.84;VMM=35.76;EFF=DOWNSTREAM(MODIFIER||535|||FAM126B|retained_intron|CODING|ENST00000474118||G),DOWNSTREAM(MODIFIER||600|||FAM126B|retained_intron|CODING|ENST00000485636||G),DOWNSTREAM(MODIFIER||1670|||FAM126B|retained_intron|CODING|ENST00000494881||G),INTRON(MODIFIER||||530|FAM126B|protein_coding|CODING|ENST00000418596|4|G),INTRON(MODIFIER||||100|FAM126B|nonsense_mediated_decay|CODING|ENST00000286181|5|G),INTRON(MODIFIER|||||FAM126B|retained_intron|CODING|ENST00000498780|4|G),INTRON(MODIFIER||||207|FAM126B|protein_coding|CODING|ENST00000452799|3|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||86|FAM126B|protein_coding|CODING|ENST00000453765|4|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||83|FAM126B|protein_coding|CODING|ENST00000446678|6|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||FAM126B|processed_transcript|CODING|ENST00000485144|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 201929031 Sibling 79A AT A . . Gene=FAM126B;MT=INDEL;MM=CM;CADD=21.3;VMM=35.76;EFF=UPSTREAM(MODIFIER||2382|||AC005037.4|processed_pseudogene|NON_CODING|ENST00000432419||A),DOWNSTREAM(MODIFIER||258|||HNRNPA1P35|processed_pseudogene|NON_CODING|ENST00000429216||A),INTRON(MODIFIER||||530|FAM126B|protein_coding|CODING|ENST00000418596|1|A),INTRON(MODIFIER||||100|FAM126B|nonsense_mediated_decay|CODING|ENST00000286181|1|A),INTRON(MODIFIER|||||FAM126B|retained_intron|CODING|ENST00000498780|1|A),INTRON(MODIFIER||||207|FAM126B|protein_coding|CODING|ENST00000452799|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||86|FAM126B|protein_coding|CODING|ENST00000453765|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||83|FAM126B|protein_coding|CODING|ENST00000446678|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||FAM126B|retained_intron|CODING|ENST00000474118|1|A),INTRON(MODIFIER|||||FAM126B|retained_intron|CODING|ENST00000485636|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 18295374 Sibling 79A T C . . Gene=MICAL3;MT=SNP;MM=CM;CADD=17.55;VMM=47;EFF=UPSTREAM(MODIFIER||1111|||XXbac-B461K10.4|retained_intron|NON_CODING|ENST00000476405||C),UPSTREAM(MODIFIER||1872||138|MICAL3|protein_coding|CODING|ENST00000584751||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||2002|MICAL3|protein_coding|CODING|ENST00000441493|27|C),INTRON(MODIFIER||||267|MICAL3|protein_coding|CODING|ENST00000577821|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||172|MICAL3|protein_coding|CODING|ENST00000579997|2|C|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||MICAL3|processed_transcript|CODING|ENST00000580469|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 18368651 Sibling 79A C T . . Gene=MICAL3;MT=SNP;MM=CM;CADD=22.6;VMM=47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|2002|MICAL3|protein_coding|CODING|ENST00000441493|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|966|MICAL3|protein_coding|CODING|ENST00000400561|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|966|MICAL3|protein_coding|CODING|ENST00000444520|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|976|MICAL3|protein_coding|CODING|ENST00000414725|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|948|MICAL3|protein_coding|CODING|ENST00000383094|15|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|976|MICAL3|protein_coding|CODING|ENST00000207726|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|1073|MICAL3|protein_coding|CODING|ENST00000429452|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R263Q|495|MICAL3|protein_coding|CODING|ENST00000461307|7|T|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R745Q|1073|MICAL3|protein_coding|CODING|ENST00000585038|15|T),UTR_3_PRIME(MODIFIER||10936||335|MICAL3|nonsense_mediated_decay|CODING|ENST00000495076|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 168352229 Sibling 79A C A . . Gene=MLLT4;MT=SNP;MM=CM;CADD=24.4;VMM=57.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1391T|1834|MLLT4|protein_coding|CODING|ENST00000400822|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1392T|1665|MLLT4|protein_coding|CODING|ENST00000344191|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1399T|1831|MLLT4|protein_coding|CODING|ENST00000351017|30|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1392T|1651|MLLT4|protein_coding|CODING|ENST00000392108|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1392T|1824|MLLT4|protein_coding|CODING|ENST00000366806|30|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1375T|1743|MLLT4|protein_coding|CODING|ENST00000392112|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P1392T|1824|MLLT4|protein_coding|CODING|ENST00000447894|29|A),UPSTREAM(MODIFIER||355||312|MLLT4|protein_coding|CODING|ENST00000507704||A),UPSTREAM(MODIFIER||400||128|MLLT4|protein_coding|CODING|ENST00000476946||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||3640|||MLLT4|processed_transcript|CODING|ENST00000507679||A),DOWNSTREAM(MODIFIER||128|||MLLT4|retained_intron|CODING|ENST00000509296||A),EXON(MODIFIER|||||MLLT4|retained_intron|CODING|ENST00000366809|28|A),EXON(MODIFIER|||||MLLT4|retained_intron|CODING|ENST00000511637|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 168355107 Sibling 79A CT C . . Gene=MLLT4;MT=INDEL;MM=CM;CADD=19.18;VMM=57.59;EFF=DOWNSTREAM(MODIFIER||2166|||MLLT4|retained_intron|CODING|ENST00000366809||C),DOWNSTREAM(MODIFIER||3007|||MLLT4|retained_intron|CODING|ENST00000509296||C),INTRON(MODIFIER||||1834|MLLT4|protein_coding|CODING|ENST00000400822|29|C),INTRON(MODIFIER||||1665|MLLT4|protein_coding|CODING|ENST00000344191|29|C),INTRON(MODIFIER||||1831|MLLT4|protein_coding|CODING|ENST00000351017|30|C),INTRON(MODIFIER||||1651|MLLT4|protein_coding|CODING|ENST00000392108|29|C),INTRON(MODIFIER||||1824|MLLT4|protein_coding|CODING|ENST00000366806|30|C),INTRON(MODIFIER||||1743|MLLT4|protein_coding|CODING|ENST00000392112|29|C),INTRON(MODIFIER||||1824|MLLT4|protein_coding|CODING|ENST00000447894|29|C),INTRON(MODIFIER|||||MLLT4|retained_intron|CODING|ENST00000511637|14|C),INTRON(MODIFIER||||312|MLLT4|protein_coding|CODING|ENST00000507704|1|C),INTRON(MODIFIER||||128|MLLT4|protein_coding|CODING|ENST00000476946|1|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 121293179 Sibling 79A G A . . Gene=COL14A1;MT=SNP;MM=CM;CADD=22.5;VMM=44.81;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M1235I|1796|COL14A1|protein_coding|CODING|ENST00000297848|31|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M1235I|1780|COL14A1|protein_coding|CODING|ENST00000309791|31|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M1140I|1701|COL14A1|protein_coding|CODING|ENST00000247781|29|A),DOWNSTREAM(MODIFIER||3075|||COL14A1|processed_transcript|CODING|ENST00000432943||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 121298164 Sibling 79A C T . . Gene=COL14A1;MT=SNP;MM=CM;CADD=16.96;VMM=44.81;EFF=SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1344|1796|COL14A1|protein_coding|CODING|ENST00000297848|33|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1344|1780|COL14A1|protein_coding|CODING|ENST00000309791|33|T),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|F1249|1701|COL14A1|protein_coding|CODING|ENST00000247781|31|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 57480232 Sibling 79B G C . . Gene=TMX2;MT=SNP;MM=CM;CADD=22.1;VMM=30.35;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|103|TMX2-CTNND1|nonsense_mediated_decay|CODING|ENST00000528395|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|296|TMX2|protein_coding|CODING|ENST00000278422|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|103|TMX2|nonsense_mediated_decay|CODING|ENST00000524972|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|258|TMX2|protein_coding|CODING|ENST00000378312|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|86|TMX2|nonsense_mediated_decay|CODING|ENST00000530114|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|115|TMX2|nonsense_mediated_decay|CODING|ENST00000525035|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|84|TMX2|nonsense_mediated_decay|CODING|ENST00000533602|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|103|TMX2|nonsense_mediated_decay|CODING|ENST00000528110|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Cgt|G48R|115|TMX2|nonsense_mediated_decay|CODING|ENST00000529403|1|C),UPSTREAM(MODIFIER||551||244|MED19|protein_coding|CODING|ENST00000431606||C),UPSTREAM(MODIFIER||559||194|MED19|protein_coding|CODING|ENST00000337672||C),UPSTREAM(MODIFIER||553|||MED19|retained_intron|CODING|ENST00000528205||C),UPSTREAM(MODIFIER||539|||MED19|retained_intron|CODING|ENST00000534677||C),EXON(MODIFIER|||||TMX2|retained_intron|CODING|ENST00000528042|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 57549185 Sibling 79B T C . . Gene=TMX2;MT=SNP;MM=CM;CADD=12.55;VMM=30.35;EFF=INTRON(MODIFIER||||103|TMX2-CTNND1|nonsense_mediated_decay|CODING|ENST00000528395|2|C),INTRON(MODIFIER||||17|RP11-691N7.6|nonsense_mediated_decay|CODING|ENST00000531074|2|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||968|CTNND1|protein_coding|CODING|ENST00000399050|1|C),INTRON(MODIFIER||||933|CTNND1|protein_coding|CODING|ENST00000524630|1|C),INTRON(MODIFIER||||938|CTNND1|protein_coding|CODING|ENST00000529919|1|C),INTRON(MODIFIER||||938|CTNND1|protein_coding|CODING|ENST00000399039|1|C),INTRON(MODIFIER||||125|CTNND1|protein_coding|CODING|ENST00000533189|1|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||947|CTNND1|protein_coding|CODING|ENST00000360682|1|C),INTRON(MODIFIER||||933|CTNND1|protein_coding|CODING|ENST00000361796|1|C),INTRON(MODIFIER||||933|CTNND1|protein_coding|CODING|ENST00000358694|1|C),INTRON(MODIFIER||||962|CTNND1|protein_coding|CODING|ENST00000361332|1|C),INTRON(MODIFIER||||941|CTNND1|protein_coding|CODING|ENST00000361391|1|C),INTRON(MODIFIER||||867|CTNND1|protein_coding|CODING|ENST00000415361|1|C),INTRON(MODIFIER||||832|CTNND1|protein_coding|CODING|ENST00000426142|1|C),INTRON(MODIFIER||||933|CTNND1|protein_coding|CODING|ENST00000428599|1|C),INTRON(MODIFIER||||616|CTNND1|protein_coding|CODING|ENST00000525902|1|C),INTRON(MODIFIER||||908|CTNND1|protein_coding|CODING|ENST00000526357|1|C),INTRON(MODIFIER||||610|CTNND1|protein_coding|CODING|ENST00000526772|1|C),INTRON(MODIFIER||||645|CTNND1|protein_coding|CODING|ENST00000527467|1|C),INTRON(MODIFIER||||838|CTNND1|protein_coding|CODING|ENST00000528232|1|C),INTRON(MODIFIER||||879|CTNND1|protein_coding|CODING|ENST00000528621|1|C),INTRON(MODIFIER||||879|CTNND1|protein_coding|CODING|ENST00000529526|1|C),INTRON(MODIFIER||||887|CTNND1|protein_coding|CODING|ENST00000529873|1|C),INTRON(MODIFIER||||832|CTNND1|protein_coding|CODING|ENST00000529986|1|C),INTRON(MODIFIER||||861|CTNND1|protein_coding|CODING|ENST00000530094|1|C),INTRON(MODIFIER||||885|CTNND1|protein_coding|CODING|ENST00000530748|1|C),INTRON(MODIFIER||||639|CTNND1|protein_coding|CODING|ENST00000531014|1|C),INTRON(MODIFIER||||832|CTNND1|protein_coding|CODING|ENST00000532245|1|C),INTRON(MODIFIER||||832|CTNND1|protein_coding|CODING|ENST00000532463|1|C),INTRON(MODIFIER||||879|CTNND1|protein_coding|CODING|ENST00000532649|1|C),INTRON(MODIFIER||||840|CTNND1|protein_coding|CODING|ENST00000532787|1|C),INTRON(MODIFIER||||914|CTNND1|protein_coding|CODING|ENST00000532844|1|C),INTRON(MODIFIER||||618|CTNND1|protein_coding|CODING|ENST00000533667|1|C),INTRON(MODIFIER||||879|CTNND1|protein_coding|CODING|ENST00000534579|1|C),INTRON(MODIFIER||||918|CTNND1|protein_coding|CODING|ENST00000526938|1|C),INTRON(MODIFIER||||3|CTNND1|protein_coding|CODING|ENST00000524579|1|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||127|CTNND1|protein_coding|CODING|ENST00000530068|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70164319 Sibling 79B G C . . Gene=PDPR;MT=SNP;MM=CM;CADD=9.943;VMM=35.72;EFF=SPLICE_SITE_REGION+INTRON(LOW||||879|PDPR|protein_coding|CODING|ENST00000288050|6|C),SPLICE_SITE_REGION+INTRON(LOW|||||PDPR|retained_intron|CODING|ENST00000561920|4|C),SPLICE_SITE_REGION+INTRON(LOW||||779|PDPR|protein_coding|CODING|ENST00000398122|4|C),SPLICE_SITE_REGION+INTRON(LOW||||879|PDPR|protein_coding|CODING|ENST00000568530|6|C),SPLICE_SITE_REGION+INTRON(LOW||||491|PDPR|nonsense_mediated_decay|CODING|ENST00000565186|4|C),UPSTREAM(MODIFIER||1517|||PDPR|processed_transcript|CODING|ENST00000562100||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 70164343 Sibling 79B C T . . Gene=PDPR;MT=SNP;MM=CM;CADD=35;VMM=35.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R209W|879|PDPR|protein_coding|CODING|ENST00000288050|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R109W|779|PDPR|protein_coding|CODING|ENST00000398122|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R209W|879|PDPR|protein_coding|CODING|ENST00000568530|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R209W|491|PDPR|nonsense_mediated_decay|CODING|ENST00000565186|5|T),UPSTREAM(MODIFIER||1493|||PDPR|processed_transcript|CODING|ENST00000562100||T),EXON(MODIFIER|||||PDPR|retained_intron|CODING|ENST00000561920|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 60232248 Sibling 79B A G . . Gene=ZCCHC2;MT=SNP;MM=CM;CADD=23.2;VMM=40.64;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K589E|1178|ZCCHC2|protein_coding|CODING|ENST00000269499|11|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K508E|1097|ZCCHC2|nonsense_mediated_decay|CODING|ENST00000585873|11|G|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K268E|857|ZCCHC2|protein_coding|CODING|ENST00000586834|10|G),DOWNSTREAM(MODIFIER||1950|||ZCCHC2|processed_transcript|CODING|ENST00000591632||G),DOWNSTREAM(MODIFIER||413|||ZCCHC2|retained_intron|CODING|ENST00000591435||G),EXON(MODIFIER|||||ZCCHC2|retained_intron|CODING|ENST00000585949|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 18 60241837 Sibling 79B C T . . Gene=ZCCHC2;MT=SNP;MM=CM;CADD=15.25;VMM=40.64;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I841|1178|ZCCHC2|protein_coding|CODING|ENST00000269499|13|T),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I760|1097|ZCCHC2|nonsense_mediated_decay|CODING|ENST00000585873|13|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|I520|857|ZCCHC2|protein_coding|CODING|ENST00000586834|12|T),UPSTREAM(MODIFIER||694||106|ZCCHC2|nonsense_mediated_decay|CODING|ENST00000591145||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ZCCHC2|retained_intron|CODING|ENST00000585949|6|T),EXON(MODIFIER|||||ZCCHC2|processed_transcript|CODING|ENST00000587612|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 25101205 Sibling 79B A T . . Gene=DOCK5;MT=SNP;MM=CM;CADD=21.4;VMM=31.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N20I|1870|DOCK5|protein_coding|CODING|ENST00000276440|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N20I|83|DOCK5|protein_coding|CODING|ENST00000410074|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aTt|N20I|350|DOCK5|protein_coding|CODING|ENST00000481100|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 25161994 Sibling 79B C A . . Gene=DOCK5;MT=SNP;MM=CM;CADD=13.47;VMM=31.96;EFF=UTR_3_PRIME(MODIFIER||147||350|DOCK5|protein_coding|CODING|ENST00000481100|11|A),UPSTREAM(MODIFIER||4261|||DOCK5|retained_intron|CODING|ENST00000478099||A),INTRON(MODIFIER||||1870|DOCK5|protein_coding|CODING|ENST00000276440|11|A),INTRON(MODIFIER||||1089|DOCK5|protein_coding|CODING|ENST00000444569|3|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 96069934 Sibling 80A G A . . Gene=BMPR1B;MT=SNP;MM=HR;CADD=33;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R401Q|532|BMPR1B|protein_coding|CODING|ENST00000440890|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R371Q|502|BMPR1B|protein_coding|CODING|ENST00000515059|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R371Q|502|BMPR1B|protein_coding|CODING|ENST00000512312|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R371Q|502|BMPR1B|protein_coding|CODING|ENST00000509540|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R371Q|502|BMPR1B|protein_coding|CODING|ENST00000264568|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R371Q|502|BMPR1B|protein_coding|CODING|ENST00000394931|8|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 111656570 Sibling 80A T C . . Gene=REV3L;MT=SNP;MM=DN;CADD=16.1;VMM=0;EFF=INTRON(MODIFIER||||3130|REV3L|protein_coding|CODING|ENST00000358835|23|C),INTRON(MODIFIER||||47|REV3L|nonsense_mediated_decay|CODING|ENST00000434009|24|C),INTRON(MODIFIER||||3130|REV3L|protein_coding|CODING|ENST00000368802|22|C),INTRON(MODIFIER||||3130|REV3L|protein_coding|CODING|ENST00000368805|23|C),INTRON(MODIFIER||||47|REV3L|nonsense_mediated_decay|CODING|ENST00000422377|24|C),INTRON(MODIFIER||||3052|REV3L|protein_coding|CODING|ENST00000435970|24|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 39997598 Sibling 80A C T . . Gene=ABCD2;MT=SNP;MM=CM;CADD=19.47;VMM=33.92;EFF=INTRON(MODIFIER||||740|ABCD2|protein_coding|CODING|ENST00000308666|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 40001601 Sibling 80A T C . . Gene=ABCD2;MT=SNP;MM=CM;CADD=15.43;VMM=33.92;EFF=INTRON(MODIFIER||||740|ABCD2|protein_coding|CODING|ENST00000308666|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 11711079 Sibling 80A G A . . Gene=DNAH9;MT=SNP;MM=CM;CADD=12.41;VMM=33.46;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P2817|4486|DNAH9|protein_coding|CODING|ENST00000262442|44|A),SYNONYMOUS_CODING(LOW|SILENT|ccG/ccA|P2817|4410|DNAH9|protein_coding|CODING|ENST00000454412|44|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 11783471 Sibling 80A C A . . Gene=DNAH9;MT=SNP;MM=CM;CADD=24.6;VMM=33.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P3519T|4486|DNAH9|protein_coding|CODING|ENST00000262442|54|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P3519T|4410|DNAH9|protein_coding|CODING|ENST00000454412|54|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P270T|283|DNAH9|protein_coding|CODING|ENST00000579703|4|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4326|||RP11-628O18.1|antisense|NON_CODING|ENST00000579621||A),UPSTREAM(MODIFIER||2748||798|DNAH9|protein_coding|CODING|ENST00000608377||A),UPSTREAM(MODIFIER||2750|||DNAH9|processed_transcript|CODING|ENST00000396001||A),UPSTREAM(MODIFIER||4180|||DNAH9|processed_transcript|CODING|ENST00000581682||A),EXON(MODIFIER|||||DNAH9|processed_transcript|CODING|ENST00000580255|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 96089897 Sibling 80A C G . . Gene=UNC5C;MT=SNP;MM=CM;CADD=11.14;VMM=40.51;EFF=UTR_3_PRIME(MODIFIER||488||931|UNC5C|protein_coding|CODING|ENST00000453304|16|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 4 96469999 Sibling 80A C A . . Gene=UNC5C;MT=SNP;MM=CM;CADD=34;VMM=40.51;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4C|931|UNC5C|protein_coding|CODING|ENST00000453304|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4C|744|UNC5C|protein_coding|CODING|ENST00000513796|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4C|597|UNC5C|protein_coding|CODING|ENST00000506749|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G4C|260|UNC5C|protein_coding|CODING|ENST00000504962|1|A),UPSTREAM(MODIFIER||281|||RP11-710C12.1|antisense|NON_CODING|ENST00000605849||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 61875218 Sibling 80A CT C . . Gene=IPO11,IPO11-LRRC70;MT=INDEL;MM=CM;CADD=17.05;VMM=32.41;EFF=UPSTREAM(MODIFIER||3121|||RP11-95I19.1|processed_pseudogene|NON_CODING|ENST00000469402||C),INTRON(MODIFIER||||1015|IPO11|protein_coding|CODING|ENST00000409296|27|C),INTRON(MODIFIER||||622|LRRC70|protein_coding|CODING|ENST00000334994|1|C),INTRON(MODIFIER||||863|IPO11|nonsense_mediated_decay|CODING|ENST00000424533|27|C),INTRON(MODIFIER||||975|IPO11|protein_coding|CODING|ENST00000325324|27|C),INTRON(MODIFIER||||159|IPO11|protein_coding|CODING|ENST00000511713|4|C),INTRON(MODIFIER|||||IPO11|processed_transcript|CODING|ENST00000511133|2|C),INTRON(MODIFIER||||59|IPO11|nonsense_mediated_decay|CODING|ENST00000413749|2|C),INTRON(MODIFIER||||94|IPO11|protein_coding|CODING|ENST00000409534|1|C),INTRON(MODIFIER|||||LRRC70|processed_transcript|CODING|ENST00000448151|1|C),INTRON(MODIFIER||||71|LRRC70|protein_coding|CODING|ENST00000491184|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 61923226 Sibling 80A G A . . Gene=IPO11,IPO11-LRRC70;MT=SNP;MM=CM;CADD=16.87;VMM=32.41;EFF=UTR_3_PRIME(MODIFIER||81||1015|IPO11|protein_coding|CODING|ENST00000409296|30|A),UTR_3_PRIME(MODIFIER||81||975|IPO11|protein_coding|CODING|ENST00000325324|30|A),UTR_3_PRIME(MODIFIER||236||159|IPO11|protein_coding|CODING|ENST00000511713|6|A),UTR_3_PRIME(MODIFIER||81||94|IPO11|protein_coding|CODING|ENST00000409534|4|A),EXON(MODIFIER|||||IPO11|processed_transcript|CODING|ENST00000512177|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 64940493 Sibling 80A C T . . Gene=EYS;MT=SNP;MM=CM;CADD=29.5;VMM=36.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C2139Y|3165|EYS|protein_coding|CODING|ENST00000370616|28|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C2139Y|3144|EYS|protein_coding|CODING|ENST00000503581|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tAt|C2139Y|3165|EYS|protein_coding|CODING|ENST00000370621|31|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 66417039 Sibling 80A G A . . Gene=EYS;MT=SNP;MM=CM;CADD=11.52;VMM=36.68;EFF=UTR_5_PRIME(MODIFIER||211736||3144|EYS|protein_coding|CODING|ENST00000503581|1|A),UTR_5_PRIME(MODIFIER||211736||3165|EYS|protein_coding|CODING|ENST00000370621|1|A),UTR_5_PRIME(MODIFIER||211736||619|EYS|protein_coding|CODING|ENST00000393380|1|A),UTR_5_PRIME(MODIFIER||211736||594|EYS|protein_coding|CODING|ENST00000370618|1|A),EXON(MODIFIER|||||EYS|retained_intron|CODING|ENST00000489873|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144942321 Sibling 80A C T . . Gene=EPPK1;MT=SNP;MM=CM;CADD=27.1;VMM=82.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V1701M|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144942796 Sibling 80A C A . . Gene=EPPK1;MT=SNP;MM=CM;CADD=22.9;VMM=82.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaG/aaT|K1542N|2420|EPPK1|protein_coding|CODING|ENST00000525985|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144993931 Sibling 80A C G . . Gene=PLEC;MT=SNP;MM=CM;CADD=24.2;VMM=92.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3490A|4684|PLEC|protein_coding|CODING|ENST00000322810|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3353A|4547|PLEC|protein_coding|CODING|ENST00000345136|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3357A|4551|PLEC|protein_coding|CODING|ENST00000357649|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3353A|4547|PLEC|protein_coding|CODING|ENST00000354589|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3321A|4515|PLEC|protein_coding|CODING|ENST00000398774|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3331A|4525|PLEC|protein_coding|CODING|ENST00000354958|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3339A|4533|PLEC|protein_coding|CODING|ENST00000356346|32|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3380A|4574|PLEC|protein_coding|CODING|ENST00000436759|33|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gCc|G3376A|4570|PLEC|protein_coding|CODING|ENST00000527096|32|G),DOWNSTREAM(MODIFIER||2169||197|PLEC|protein_coding|CODING|ENST00000527303||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 144996976 Sibling 80A C T . . Gene=PLEC;MT=SNP;MM=CM;CADD=28;VMM=92.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2511Q|4684|PLEC|protein_coding|CODING|ENST00000322810|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2374Q|4547|PLEC|protein_coding|CODING|ENST00000345136|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2378Q|4551|PLEC|protein_coding|CODING|ENST00000357649|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2374Q|4547|PLEC|protein_coding|CODING|ENST00000354589|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2342Q|4515|PLEC|protein_coding|CODING|ENST00000398774|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2352Q|4525|PLEC|protein_coding|CODING|ENST00000354958|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2360Q|4533|PLEC|protein_coding|CODING|ENST00000356346|31|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2401Q|4574|PLEC|protein_coding|CODING|ENST00000436759|32|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R2397Q|4570|PLEC|protein_coding|CODING|ENST00000527096|31|T),INTRON(MODIFIER||||197|PLEC|protein_coding|CODING|ENST00000527303|2|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 116190186 Sibling 80A T A . . Gene=C9orf43;MT=SNP;MM=CM;CADD=16.65;VMM=44.47;EFF=INTRON(MODIFIER||||461|C9orf43|protein_coding|CODING|ENST00000288462|11|A),INTRON(MODIFIER||||461|C9orf43|protein_coding|CODING|ENST00000374165|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 116191187 Sibling 80A C T . . Gene=C9orf43;MT=SNP;MM=CM;CADD=22.8;VMM=44.47;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T372M|461|C9orf43|protein_coding|CODING|ENST00000288462|13|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T372M|461|C9orf43|protein_coding|CODING|ENST00000374165|13|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 27141264 Sibling 80B T G . . Gene=BBOX1;MT=SNP;MM=DN;CADD=22;VMM=0;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||387|BBOX1|protein_coding|CODING||7|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||387|BBOX1|protein_coding|CODING||6|G),PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||387|BBOX1|protein_coding|CODING||5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N236K|387|BBOX1|protein_coding|CODING|ENST00000263182|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N236K|387|BBOX1|protein_coding|CODING|ENST00000529202|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N236K|387|BBOX1|protein_coding|CODING|ENST00000528583|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N236K|387|BBOX1|protein_coding|CODING|ENST00000525090|5|G),INTRON(MODIFIER|||||RP11-1L12.3|antisense|NON_CODING|ENST00000530430|3|G),INTRON(MODIFIER|||||RP11-1L12.3|antisense|NON_CODING|ENST00000526061|3|G),INTRON(MODIFIER|||||RP11-1L12.3|antisense|NON_CODING|ENST00000525302|3|G),EXON(MODIFIER|||||BBOX1|processed_transcript|CODING|ENST00000527505|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 64935726 Sibling 80B C T . . Gene=AKAP5;MT=SNP;MM=HR;CADD=27.1;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S205F|427|AKAP5|protein_coding|CODING|ENST00000320636|1|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S205F|427|AKAP5|protein_coding|CODING|ENST00000394718|2|T),INTRON(MODIFIER||||86|ZBTB25|protein_coding|CODING|ENST00000555220|2|T),INTRON(MODIFIER||||94|ZBTB25|protein_coding|CODING|ENST00000555424|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 127568995 Sibling 80B C T . . Gene=FAM84B;MT=SNP;MM=DN;CADD=27;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E214K|310|FAM84B|protein_coding|CODING|ENST00000304916|2|T),UPSTREAM(MODIFIER||146|||RP11-103H7.5|antisense|NON_CODING|ENST00000524320||T),UPSTREAM(MODIFIER||1125|||RP11-89K10.1|antisense|NON_CODING|ENST00000519880||T),UPSTREAM(MODIFIER||331|||FAM84B|processed_transcript|CODING|ENST00000517458||T),UPSTREAM(MODIFIER||1136|||RP11-89K10.1|antisense|NON_CODING|ENST00000517773||T),UPSTREAM(MODIFIER||1145|||RP11-89K10.1|antisense|NON_CODING|ENST00000520512||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 150230422 Sibling 80B GCTCT G . . Gene=CA14;MT=INDEL;MM=CM;CADD=12.95;VMM=36.82;EFF=UTR_5_PRIME(MODIFIER||98||337|CA14|protein_coding|CODING|ENST00000369111|1|G),UPSTREAM(MODIFIER||742|||RP4-790G17.7|antisense|NON_CODING|ENST00000607002||G),UPSTREAM(MODIFIER||3670|||snoU13|snoRNA|NON_CODING|ENST00000458929||G),UPSTREAM(MODIFIER||66||42|CA14|nonsense_mediated_decay|CODING|ENST00000483993||G),EXON(MODIFIER|||||CA14|retained_intron|CODING|ENST00000607751|1|G),EXON(MODIFIER|||||CA14|retained_intron|CODING|ENST00000607652|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 150234945 Sibling 80B T C . . Gene=CA14;MT=SNP;MM=CM;CADD=25.6;VMM=36.82;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Cct|S141P|337|CA14|protein_coding|CODING|ENST00000369111|5|C),NEXT_PROT[turn:combinatorial_evidence_used_in_manual_assertion](LOW||||337|CA14|protein_coding|CODING||5|C),UTR_3_PRIME(MODIFIER||2215||42|CA14|nonsense_mediated_decay|CODING|ENST00000483993|6|C),UPSTREAM(MODIFIER||498||130|CA14|protein_coding|CODING|ENST00000607082||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||749|||snoU13|snoRNA|NON_CODING|ENST00000458929||C),DOWNSTREAM(MODIFIER||2859||265|APH1A|protein_coding|CODING|ENST00000369109||C),DOWNSTREAM(MODIFIER||1215|||CA14|retained_intron|CODING|ENST00000607751||C),DOWNSTREAM(MODIFIER||2861||247|APH1A|protein_coding|CODING|ENST00000360244||C),DOWNSTREAM(MODIFIER||2878||195|APH1A|protein_coding|CODING|ENST00000414276||C),DOWNSTREAM(MODIFIER||3804|||APH1A|processed_transcript|CODING|ENST00000461320||C),DOWNSTREAM(MODIFIER||4100||149|APH1A|protein_coding|CODING|ENST00000236017||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4411|||APH1A|processed_transcript|CODING|ENST00000486308||C),DOWNSTREAM(MODIFIER||4552|||APH1A|processed_transcript|CODING|ENST00000486720||C),DOWNSTREAM(MODIFIER||4825|||APH1A|processed_transcript|CODING|ENST00000476538||C),EXON(MODIFIER|||||CA14|retained_intron|CODING|ENST00000607652|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 103057146 Sibling 80B G A . . Gene=DYNC2H1;MT=SNP;MM=CM;CADD=27.9;VMM=32.31;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R2270Q|4314|DYNC2H1|protein_coding|CODING|ENST00000398093|42|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R2270Q|4307|DYNC2H1|protein_coding|CODING|ENST00000375735|42|A),INTRON(MODIFIER||||920|DYNC2H1|protein_coding|CODING|ENST00000334267|15|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 103327268 Sibling 80B A G . . Gene=DYNC2H1;MT=SNP;MM=CM;CADD=10.91;VMM=32.31;EFF=INTRON(MODIFIER||||4314|DYNC2H1|protein_coding|CODING|ENST00000398093|88|G),INTRON(MODIFIER||||4307|DYNC2H1|protein_coding|CODING|ENST00000375735|87|G),INTRON(MODIFIER||||920|DYNC2H1|protein_coding|CODING|ENST00000334267|18|G),INTRON(MODIFIER||||378|DYNC2H1|nonsense_mediated_decay|CODING|ENST00000528670|15|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||224|DYNC2H1|protein_coding|CODING|ENST00000533197|4|G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||DYNC2H1|retained_intron|CODING|ENST00000530547|2|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57522754 Sibling 80B A C . . Gene=LRP1;MT=SNP;MM=CM;CADD=23.1;VMM=46.19;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||847|STAT6|protein_coding|CODING|ENST00000556155|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3P|4544|LRP1|protein_coding|CODING|ENST00000243077|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3P|296|LRP1|protein_coding|CODING|ENST00000553277|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3P|292|LRP1|protein_coding|CODING|ENST00000338962|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Ccc|T3P|439|LRP1|protein_coding|CODING|ENST00000554174|1|C),INTRON(MODIFIER||||153|STAT6|protein_coding|CODING|ENST00000553499|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 57548167 Sibling 80B G A . . Gene=LRP1;MT=SNP;MM=CM;CADD=16.96;VMM=46.19;EFF=NEXT_PROT[repeat:LDL-receptor_class_B_2](LOW||||4544|LRP1|protein_coding|CODING||7|A),DOWNSTREAM(MODIFIER||4325||296|LRP1|protein_coding|CODING|ENST00000553277||A),DOWNSTREAM(MODIFIER||4325||292|LRP1|protein_coding|CODING|ENST00000338962||A),INTRON(MODIFIER||||4544|LRP1|protein_coding|CODING|ENST00000243077|7|A),INTRON(MODIFIER||||439|LRP1|protein_coding|CODING|ENST00000554174|7|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 61808260 Sibling 80B A G . . Gene=IPO11;MT=SNP;MM=CM;CADD=22.5;VMM=45.11;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tTt/tCt|F17S|79|CKS1B|protein_coding|CODING|ENST00000600888|1|G),UPSTREAM(MODIFIER||3018|||IPO11|retained_intron|CODING|ENST00000502862||G),UPSTREAM(MODIFIER||3025||159|IPO11|protein_coding|CODING|ENST00000511713||G),INTRON(MODIFIER||||1015|IPO11|protein_coding|CODING|ENST00000409296|19|G),INTRON(MODIFIER|||||KIF2A|processed_transcript|CODING|ENST00000509663|1|G),INTRON(MODIFIER||||863|IPO11|nonsense_mediated_decay|CODING|ENST00000424533|19|G),INTRON(MODIFIER||||975|IPO11|protein_coding|CODING|ENST00000325324|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 61875218 Sibling 80B CT C . . Gene=IPO11;MT=INDEL;MM=CM;CADD=17.05;VMM=45.11;EFF=UPSTREAM(MODIFIER||3121|||RP11-95I19.1|processed_pseudogene|NON_CODING|ENST00000469402||C),INTRON(MODIFIER||||1015|IPO11|protein_coding|CODING|ENST00000409296|27|C),INTRON(MODIFIER||||622|LRRC70|protein_coding|CODING|ENST00000334994|1|C),INTRON(MODIFIER||||863|IPO11|nonsense_mediated_decay|CODING|ENST00000424533|27|C),INTRON(MODIFIER||||975|IPO11|protein_coding|CODING|ENST00000325324|27|C),INTRON(MODIFIER||||159|IPO11|protein_coding|CODING|ENST00000511713|4|C),INTRON(MODIFIER|||||IPO11|processed_transcript|CODING|ENST00000511133|2|C),INTRON(MODIFIER||||59|IPO11|nonsense_mediated_decay|CODING|ENST00000413749|2|C),INTRON(MODIFIER||||94|IPO11|protein_coding|CODING|ENST00000409534|1|C),INTRON(MODIFIER|||||LRRC70|processed_transcript|CODING|ENST00000448151|1|C),INTRON(MODIFIER||||71|LRRC70|protein_coding|CODING|ENST00000491184|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 120885834 Sibling 80B T C . . Gene=DEPTOR;MT=SNP;MM=CM;CADD=15.01;VMM=57.04;EFF=UPSTREAM(MODIFIER||123||409|DEPTOR|protein_coding|CODING|ENST00000286234||C),UPSTREAM(MODIFIER||123||308|DEPTOR|protein_coding|CODING|ENST00000523492||C),INTRON(MODIFIER|||||KB-1471A8.1|lincRNA|NON_CODING|ENST00000523563|1|C),EXON(MODIFIER|||||KB-1471A8.1|lincRNA|NON_CODING|ENST00000500705|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 120940733 Sibling 80B G C . . Gene=DEPTOR;MT=SNP;MM=CM;CADD=32;VMM=57.04;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgC|W72C|409|DEPTOR|protein_coding|CODING|ENST00000286234|2|C),INTRON(MODIFIER||||308|DEPTOR|protein_coding|CODING|ENST00000523492|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 202549798 Sibling 81A C T . . Gene=PPP1R12B;MT=SNP;MM=HR;CADD=17.45;VMM=0;EFF=UTR_3_PRIME(MODIFIER||110||982|PPP1R12B|protein_coding|CODING|ENST00000336894|24|T),UTR_3_PRIME(MODIFIER||110||982|PPP1R12B|protein_coding|CODING|ENST00000608999|24|T),UTR_3_PRIME(MODIFIER||5534||224|PPP1R12B|protein_coding|CODING|ENST00000367270|13|T),UTR_3_PRIME(MODIFIER||110||208|PPP1R12B|protein_coding|CODING|ENST00000391959|12|T),EXON(MODIFIER|||||PPP1R12B|processed_transcript|CODING|ENST00000290419|13|T),EXON(MODIFIER|||||PPP1R12B|processed_transcript|CODING|ENST00000491336|12|T),EXON(MODIFIER|||||PPP1R12B|processed_transcript|CODING|ENST00000465284|4|T),EXON(MODIFIER|||||PPP1R12B|processed_transcript|CODING|ENST00000462074|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 121431395 Sibling 81A G A . . Gene=HNF1A;MT=SNP;MM=DN;CADD=27.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|662|HNF1A|protein_coding|CODING|ENST00000541395|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|631|HNF1A|protein_coding|CODING|ENST00000257555|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|542|HNF1A|protein_coding|CODING|ENST00000400024|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R247Q|355|HNF1A|nonsense_mediated_decay|CODING|ENST00000560968|3|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|520|HNF1A|protein_coding|CODING|ENST00000402929|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R83Q|403|HNF1A|protein_coding|CODING|ENST00000543427|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|247|HNF1A|nonsense_mediated_decay|CODING|ENST00000541924|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R200Q|638|HNF1A|protein_coding|CODING|ENST00000544413|3|A),UTR_3_PRIME(MODIFIER||39||119|HNF1A|nonsense_mediated_decay|CODING|ENST00000540108|2|A),UPSTREAM(MODIFIER||2798|||HNF1A|retained_intron|CODING|ENST00000543255||A),INTRON(MODIFIER||||114|HNF1A|protein_coding|CODING|ENST00000535955|1|A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||124|HNF1A|protein_coding|CODING|ENST00000538626|1|A),INTRON(MODIFIER||||278|HNF1A|nonsense_mediated_decay|CODING|ENST00000538646|2|A),INTRON(MODIFIER||||41|HNF1A|nonsense_mediated_decay|CODING|ENST00000544574|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 48125304 Sibling 81A G T . . Gene=ABCC12;MT=SNP;MM=HR;CADD=15.16;VMM=0;EFF=UPSTREAM(MODIFIER||4753|||ABCC12|processed_transcript|CODING|ENST00000532355||T),UPSTREAM(MODIFIER||155|||ABCC12|retained_intron|CODING|ENST00000526251||T),INTRON(MODIFIER||||1359|ABCC12|protein_coding|CODING|ENST00000311303|22|T),INTRON(MODIFIER||||930|ABCC12|nonsense_mediated_decay|CODING|ENST00000534418|20|T),INTRON(MODIFIER||||633|ABCC12|nonsense_mediated_decay|CODING|ENST00000529084|23|T),INTRON(MODIFIER||||633|ABCC12|protein_coding|CODING|ENST00000416054|21|T),INTRON(MODIFIER||||935|ABCC12|protein_coding|CODING|ENST00000448542|21|T),INTRON(MODIFIER||||1009|ABCC12|nonsense_mediated_decay|CODING|ENST00000497206|22|T),INTRON(MODIFIER||||935|ABCC12|nonsense_mediated_decay|CODING|ENST00000529504|21|T),INTRON(MODIFIER||||1009|ABCC12|nonsense_mediated_decay|CODING|ENST00000532494|22|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 47107474 Sibling 81A G A . . Gene=USP11;MT=SNP;MM=XL;CADD=15.56;VMM=0;EFF=UTR_3_PRIME(MODIFIER||145||963|USP11|protein_coding|CODING|ENST00000218348|21|A),UTR_3_PRIME(MODIFIER||145||920|USP11|protein_coding|CODING|ENST00000377107|21|A),DOWNSTREAM(MODIFIER||3550|||USP11|retained_intron|CODING|ENST00000480104||A),DOWNSTREAM(MODIFIER||2750|||USP11|retained_intron|CODING|ENST00000488848||A),DOWNSTREAM(MODIFIER||378|||USP11|retained_intron|CODING|ENST00000497179||A),DOWNSTREAM(MODIFIER||123|||USP11|retained_intron|CODING|ENST00000467378||A),EXON(MODIFIER|||||USP11|retained_intron|CODING|ENST00000469080|19|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 107170217 Sibling 81A G C . . Gene=MID2;MT=SNP;MM=XL;CADD=26.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D708H|735|MID2|protein_coding|CODING|ENST00000262843|10|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Cat|D678H|705|MID2|protein_coding|CODING|ENST00000443968|10|C),DOWNSTREAM(MODIFIER||515|||MID2|retained_intron|CODING|ENST00000474517||C),INTRON(MODIFIER|||||RP6-191P20.4|antisense|NON_CODING|ENST00000430140|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. X 153002655 Sibling 81A C A . . Gene=ABCD1;MT=SNP;MM=XL;CADD=28.4;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P480T|745|ABCD1|protein_coding|CODING|ENST00000218104|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Acc|P147T|221|ABCD1|protein_coding|CODING|ENST00000443684|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||U52111.14|antisense|NON_CODING|ENST00000434284|2|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ibling 81A C A . . Gene=WDR90;MT=SNP;MM=CM;CADD=24.6;VMM=82.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A976D|1750|WDR90|protein_coding|CODING|ENST00000549091|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A976D|1748|WDR90|protein_coding|CODING|ENST00000293879|24|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCt/gAt|A281D|475|WDR90|nonsense_mediated_decay|CODING|ENST00000552728|7|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2733|||LA16c-349E10.1|antisense|NON_CODING|ENST00000573609||A),UPSTREAM(MODIFIER||318||131|WDR90|protein_coding|CODING|ENST00000550739||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2138|||WDR90|retained_intron|CODING|ENST00000549024||A),UPSTREAM(MODIFIER||2661|||WDR90|retained_intron|CODING|ENST00000550902||A),UPSTREAM(MODIFIER||2805|||WDR90|retained_intron|CODING|ENST00000546923||A),UPSTREAM(MODIFIER||3348|||WDR90|processed_transcript|CODING|ENST00000548603||A),UPSTREAM(MODIFIER||4213|||WDR90|processed_transcript|CODING|ENST00000547543||A),DOWNSTREAM(MODIFIER||2726|||WDR90|retained_intron|CODING|ENST00000420061||A),DOWNSTREAM(MODIFIER||2726|||WDR90|retained_intron|CODING|ENST00000549648||A),DOWNSTREAM(MODIFIER||1804|||WDR90|processed_transcript|CODING|ENST00000552648||A),DOWNSTREAM(MODIFIER||1570|||WDR90|retained_intron|CODING|ENST00000548859||A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000552943|21|A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000546516|10|A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000547407|7|A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000552683|4|A),EXON(MODIFIER|||||WDR90|processed_transcript|CODING|ENST00000548844|2|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ibling 81A G A . . Gene=WDR90;MT=SNP;MM=CM;CADD=25.2;VMM=82.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1442K|1750|WDR90|protein_coding|CODING|ENST00000549091|35|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1440K|1748|WDR90|protein_coding|CODING|ENST00000293879|35|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E39K|347|WDR90|protein_coding|CODING|ENST00000547944|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E39K|299|WDR90|protein_coding|CODING|ENST00000315764|1|A),UTR_3_PRIME(MODIFIER||4240||475|WDR90|nonsense_mediated_decay|CODING|ENST00000552728|16|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2401||618|RHOT2|protein_coding|CODING|ENST00000315082||A),UPSTREAM(MODIFIER||189|||WDR90|retained_intron|CODING|ENST00000548448||A),UPSTREAM(MODIFIER||811||77|WDR90|protein_coding|CODING|ENST00000551100||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1226||115|WDR90|protein_coding|CODING|ENST00000546896||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2420|||RHOT2|retained_intron|CODING|ENST00000563776||A),UPSTREAM(MODIFIER||2420||135|RHOT2|nonsense_mediated_decay|CODING|ENST00000561983||A),UPSTREAM(MODIFIER||2421||213|RHOT2|protein_coding|CODING|ENST00000563134||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2427|||RHOT2|retained_intron|CODING|ENST00000562708||A),UPSTREAM(MODIFIER||2439|||RHOT2|retained_intron|CODING|ENST00000570092||A),UPSTREAM(MODIFIER||2447|||RHOT2|retained_intron|CODING|ENST00000569706||A),UPSTREAM(MODIFIER||2450|||RHOT2|retained_intron|CODING|ENST00000569675||A),UPSTREAM(MODIFIER||2466||80|RHOT2|nonsense_mediated_decay|CODING|ENST00000566214||A),UPSTREAM(MODIFIER||2466||72|RHOT2|nonsense_mediated_decay|CODING|ENST00000563637||A),UPSTREAM(MODIFIER||2468||55|RHOT2|nonsense_mediated_decay|CODING|ENST00000570280||A),UPSTREAM(MODIFIER||2477|||RHOT2|retained_intron|CODING|ENST00000567017||A),UPSTREAM(MODIFIER||2493|||RHOT2|retained_intron|CODING|ENST00000568950||A),UPSTREAM(MODIFIER||2495|||RHOT2|retained_intron|CODING|ENST00000602564||A),UPSTREAM(MODIFIER||2497|||RHOT2|retained_intron|CODING|ENST00000562598||A),UPSTREAM(MODIFIER||2502||135|RHOT2|nonsense_mediated_decay|CODING|ENST00000562333||A),UPSTREAM(MODIFIER||2524||207|RHOT2|protein_coding|CODING|ENST00000561929||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2668|||RHOT2|processed_transcript|CODING|ENST00000569943||A),UPSTREAM(MODIFIER||2875|||RHOT2|retained_intron|CODING|ENST00000566965||A),UPSTREAM(MODIFIER||2973|||RHOT2|retained_intron|CODING|ENST00000568636||A),UPSTREAM(MODIFIER||4770|||RHOT2|retained_intron|CODING|ENST00000569358||A),UPSTREAM(MODIFIER||4843|||RHOT2|retained_intron|CODING|ENST00000567589||A),DOWNSTREAM(MODIFIER||4610|||WDR90|retained_intron|CODING|ENST00000552943||A),DOWNSTREAM(MODIFIER||2252|||WDR90|retained_intron|CODING|ENST00000546516||A),DOWNSTREAM(MODIFIER||2247|||WDR90|retained_intron|CODING|ENST00000552683||A),DOWNSTREAM(MODIFIER||4610|||WDR90|processed_transcript|CODING|ENST00000548844||A),DOWNSTREAM(MODIFIER||4971||131|WDR90|protein_coding|CODING|ENST00000550739||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3461|||WDR90|retained_intron|CODING|ENST00000550902||A),DOWNSTREAM(MODIFIER||2949|||WDR90|retained_intron|CODING|ENST00000546923||A),DOWNSTREAM(MODIFIER||2248|||WDR90|processed_transcript|CODING|ENST00000548603||A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000547407|18|A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000549024|6|A),EXON(MODIFIER|||||WDR90|processed_transcript|CODING|ENST00000547543|2|A),EXON(MODIFIER|||||WDR90|retained_intron|CODING|ENST00000553080|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 25443177 Sibling 81A T G . . Gene=NINL;MT=SNP;MM=CM;CADD=21.9;VMM=31.67;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aat/Cat|N1142H|1382|NINL|protein_coding|CODING|ENST00000278886|20|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aat/Cat|N793H|1033|NINL|protein_coding|CODING|ENST00000422516|19|G),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|Aat/Cat|N94H|145|NINL|protein_coding|CODING|ENST00000336104|4|G|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3565|||NINL|processed_transcript|CODING|ENST00000464285||G),EXON(MODIFIER|||||NINL|processed_transcript|CODING|ENST00000496509|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 25472059 Sibling 81A C T . . Gene=NINL;MT=SNP;MM=CM;CADD=13.1;VMM=31.67;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A471|1382|NINL|protein_coding|CODING|ENST00000278886|11|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A471|1033|NINL|protein_coding|CODING|ENST00000422516|11|T),INTRON(MODIFIER|||||NINL|processed_transcript|CODING|ENST00000461642|1|T),EXON(MODIFIER|||||NINL|processed_transcript|CODING|ENST00000489780|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140719530 Sibling 81A C A . . Gene=PCDHGA2;MT=SNP;MM=CM;CADD=23.2;VMM=79.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gAg|A331E|932|PCDHGA2|protein_coding|CODING|ENST00000394576|1|A),UPSTREAM(MODIFIER||4071||932|PCDHGA3|protein_coding|CODING|ENST00000253812||A),INTRON(MODIFIER||||931|PCDHGA1|protein_coding|CODING|ENST00000517417|1|A),EXON(MODIFIER|||||PCDHGA2|retained_intron|CODING|ENST00000528330|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140720334 Sibling 81A G T . . Gene=PCDHGA2;MT=SNP;MM=CM;CADD=25.9;VMM=79.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGc/gTc|G599V|932|PCDHGA2|protein_coding|CODING|ENST00000394576|1|T),UPSTREAM(MODIFIER||3267||932|PCDHGA3|protein_coding|CODING|ENST00000253812||T),INTRON(MODIFIER||||931|PCDHGA1|protein_coding|CODING|ENST00000517417|1|T),EXON(MODIFIER|||||PCDHGA2|retained_intron|CODING|ENST00000528330|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 101724606 Sibling 81A G A . . Gene=PABPC1;MT=SNP;MM=CM;CADD=31;VMM=170.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T319I|636|PABPC1|protein_coding|CODING|ENST00000318607|7|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T274I|591|PABPC1|protein_coding|CODING|ENST00000519004|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T287I|604|PABPC1|protein_coding|CODING|ENST00000522387|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T9I|164|PABPC1|nonsense_mediated_decay|CODING|ENST00000523636|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T116I|130|PABPC1|nonsense_mediated_decay|CODING|ENST00000519622|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCa/aTa|T187I|282|PABPC1|protein_coding|CODING|ENST00000519100|5|A|WARNING_TRANSCRIPT_NO_START_CODON),NEXT_PROT[modified-residue:phosphothreonine](MODERATE||||636|PABPC1|protein_coding|CODING||7|A),UPSTREAM(MODIFIER||4415|||AP001205.1|miRNA|NON_CODING|ENST00000579868||A),UPSTREAM(MODIFIER||2531|||PABPC1|retained_intron|CODING|ENST00000518716||A),DOWNSTREAM(MODIFIER||760|||PABPC1|retained_intron|CODING|ENST00000517921||A),DOWNSTREAM(MODIFIER||764||172|PABPC1|protein_coding|CODING|ENST00000523555||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||185|PABPC1|protein_coding|CODING|ENST00000517403|1|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||PABPC1|processed_transcript|CODING|ENST00000519596|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 101730335 Sibling 81A C A . . Gene=PABPC1;MT=SNP;MM=CM;CADD=34;VMM=170.48;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||636|PABPC1|protein_coding|CODING||2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G123C|636|PABPC1|protein_coding|CODING|ENST00000318607|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G78C|591|PABPC1|protein_coding|CODING|ENST00000519004|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G78C|107|PABPC1|protein_coding|CODING|ENST00000518196|3|A|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggt/Tgt|G123C|128|PABPC1|protein_coding|CODING|ENST00000521865|4|A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2506|||PABPC1|processed_transcript|CODING|ENST00000519596||A),UPSTREAM(MODIFIER||2611||130|PABPC1|nonsense_mediated_decay|CODING|ENST00000519622||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||217||282|PABPC1|protein_coding|CODING|ENST00000519100||A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||13||117|PABPC1|protein_coding|CODING|ENST00000520142||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||142||74|PABPC1|protein_coding|CODING|ENST00000522720||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3294||60|PABPC1|protein_coding|CODING|ENST00000521067||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3346||42|PABPC1|protein_coding|CODING|ENST00000520804||A|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3362||37|PABPC1|protein_coding|CODING|ENST00000519363||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||604|PABPC1|protein_coding|CODING|ENST00000522387|3|A),INTRON(MODIFIER||||172|PABPC1|protein_coding|CODING|ENST00000523555|2|A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||PABPC1|retained_intron|CODING|ENST00000517921|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 155566208 Sibling 81B T TC . . Gene=KCNJ3;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||tcc/tCcc|S266S?|501|KCNJ3|protein_coding|CODING|ENST00000295101|2|TC),INTRON(MODIFIER||||235|KCNJ3|protein_coding|CODING|ENST00000544049|1|TC),EXON(MODIFIER|||||KCNJ3|processed_transcript|CODING|ENST00000493505|2|TC) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 8 71336347 Sibling 81B C T . . Gene=NCOA2(dist=20327),TRAM1(dist=149106);MT=SNP;MM=DN;CADD=18.67;VMM=0;EFF=DOWNSTREAM(MODIFIER||13|||RP11-333A23.1|processed_pseudogene|NON_CODING|ENST00000465359||T),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 184702008 Sibling 81B G A . . Gene=EDEM3;MT=SNP;MM=CM;CADD=32;VMM=67.94;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P192L|932|EDEM3|protein_coding|CODING|ENST00000318130|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P149L|905|EDEM3|protein_coding|CODING|ENST00000367512|6|A),EXON(MODIFIER|||||EDEM3|retained_intron|CODING|ENST00000474725|5|A),EXON(MODIFIER|||||EDEM3|retained_intron|CODING|ENST00000466606|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 184723912 Sibling 81B C A . . Gene=EDEM3;MT=SNP;MM=CM;CADD=17.05;VMM=67.94;EFF=MOTIF[MA0024.1:E2F1](LOW||||||||||A),UTR_5_PRIME(MODIFIER||132||932|EDEM3|protein_coding|CODING|ENST00000318130|1|A),UPSTREAM(MODIFIER||211||905|EDEM3|protein_coding|CODING|ENST00000367512||A),EXON(MODIFIER|||||EDEM3|retained_intron|CODING|ENST00000474725|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 184853890 Sibling 81B T C . . Gene=FAM129A;MT=SNP;MM=CM;CADD=19.51;VMM=56.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K160E|928|FAM129A|protein_coding|CODING|ENST00000367511|5|C),DOWNSTREAM(MODIFIER||2983|||FAM129A|processed_transcript|CODING|ENST00000496299||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 184863330 Sibling 81B G A . . Gene=FAM129A;MT=SNP;MM=CM;CADD=23.6;VMM=56.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A66V|928|FAM129A|protein_coding|CODING|ENST00000367511|3|A),UPSTREAM(MODIFIER||4011|||FAM129A|processed_transcript|CODING|ENST00000496299||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 73886951 Sibling 81B A ACG . . Gene=TRIM65;MT=INDEL;MM=CM;CADD=35;VMM=119.13;EFF=FRAME_SHIFT(HIGH||gtc/gCGtc|V488A?|517|TRIM65|protein_coding|CODING|ENST00000269383|6|ACG),DOWNSTREAM(MODIFIER||152||286|TRIM65|protein_coding|CODING|ENST00000543309||ACG|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||309||243|TRIM65|protein_coding|CODING|ENST00000540128||ACG),DOWNSTREAM(MODIFIER||1712|||TRIM65|retained_intron|CODING|ENST00000540812||ACG),INTRON(MODIFIER||||136|TRIM65|protein_coding|CODING|ENST00000591668|4|ACG|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||90|TRIM65|protein_coding|CODING|ENST00000592642|2|ACG|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 73887089 Sibling 81B C T . . Gene=TRIM65;MT=SNP;MM=CM;CADD=23.5;VMM=119.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R442H|517|TRIM65|protein_coding|CODING|ENST00000269383|6|T),DOWNSTREAM(MODIFIER||15||286|TRIM65|protein_coding|CODING|ENST00000543309||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||172||243|TRIM65|protein_coding|CODING|ENST00000540128||T),DOWNSTREAM(MODIFIER||1575|||TRIM65|retained_intron|CODING|ENST00000540812||T),INTRON(MODIFIER||||136|TRIM65|protein_coding|CODING|ENST00000591668|4|T|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||90|TRIM65|protein_coding|CODING|ENST00000592642|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 182322358 Sibling 81B T G . . Gene=ITGA4;MT=SNP;MM=CM;CADD=12.35;VMM=31.58;EFF=UTR_5_PRIME(MODIFIER||24||1032|ITGA4|protein_coding|CODING|ENST00000397033|1|G),UTR_5_PRIME(MODIFIER||24||195|ITGA4|protein_coding|CODING|ENST00000339307|1|G),UTR_5_PRIME(MODIFIER||24||613|ITGA4|protein_coding|CODING|ENST00000233573|1|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||82|||ITGA4|retained_intron|CODING|ENST00000484404||G),UPSTREAM(MODIFIER||610|||ITGA4|processed_transcript|CODING|ENST00000478440||G),EXON(MODIFIER|||||ITGA4|retained_intron|CODING|ENST00000476089|1|G),EXON(MODIFIER|||||ITGA4|retained_intron|CODING|ENST00000465522|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 182394308 Sibling 81B T C . . Gene=ITGA4;MT=SNP;MM=CM;CADD=23.4;VMM=31.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V824A|1032|ITGA4|protein_coding|CODING|ENST00000397033|23|C),DOWNSTREAM(MODIFIER||2131|||ITGA4|retained_intron|CODING|ENST00000476824||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140571877 Sibling 81B C A . . Gene=PCDHB10;MT=SNP;MM=CM;CADD=16.5;VMM=48.41;EFF=MOTIF[MA0139.1:CTCF](MODIFIER||||||||||A),UPSTREAM(MODIFIER||65||800|PCDHB10|protein_coding|CODING|ENST00000239446||A),DOWNSTREAM(MODIFIER||766|||PCDHB9|pseudogene|NON_CODING|ENST00000316105||A),INTERGENIC(MODIFIER||||||||||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 5 140574209 Sibling 81B C G . . Gene=PCDHB10;MT=SNP;MM=CM;CADD=24.8;VMM=48.41;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gGg|A695G|800|PCDHB10|protein_coding|CODING|ENST00000239446|1|G),UPSTREAM(MODIFIER||4974||432|PCDHB11|protein_coding|CODING|ENST00000536699||G),DOWNSTREAM(MODIFIER||3098|||PCDHB9|pseudogene|NON_CODING|ENST00000316105||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 137748675 Sibling 82A C T . . Gene=CLDN18;MT=SNP;MM=DN;CADD=20.2;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S141L|146|CLDN18|nonsense_mediated_decay|CODING|ENST00000479660|3|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V180|261|CLDN18|protein_coding|CODING|ENST00000183605|4|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V180|261|CLDN18|protein_coding|CODING|ENST00000343735|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 21069103 Sibling 82A A G . . Gene=NEBL;MT=SNP;MM=CM;CADD=11.46;VMM=43.37;EFF=UTR_3_PRIME(MODIFIER||5573||1014|NEBL|protein_coding|CODING|ENST00000377122|28|G),DOWNSTREAM(MODIFIER||3732||270|NEBL|protein_coding|CODING|ENST00000417816||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 21177128 Sibling 82A G C . . Gene=NEBL;MT=SNP;MM=CM;CADD=35;VMM=43.37;EFF=STOP_GAINED(HIGH|NONSENSE|taC/taG|Y89*|1014|NEBL|protein_coding|CODING|ENST00000377122|4|C),STOP_GAINED(HIGH|NONSENSE|taC/taG|Y89*|231|NEBL|protein_coding|CODING|ENST00000377119|4|C),STOP_GAINED(HIGH|NONSENSE|taC/taG|Y73*|116|NEBL|protein_coding|CODING|ENST00000434381|4|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||270|NEBL|protein_coding|CODING|ENST00000417816|4|C),INTRON(MODIFIER||||236|NEBL|protein_coding|CODING|ENST00000377159|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 9392092 Sibling 82A T G . . Gene=MIR1244-1;MT=SNP;MM=CM;CADD=21.8;VMM=34.34;EFF=UPSTREAM(MODIFIER||507|||LINC00987|lincRNA|NON_CODING|ENST00000427111||G),DOWNSTREAM(MODIFIER||490|||PTMAP4|processed_pseudogene|NON_CODING|ENST00000426188||G),DOWNSTREAM(MODIFIER||521|||PTMAP4|processed_pseudogene|NON_CODING|ENST00000595695||G),INTRON(MODIFIER|||||A2MP1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000566278|19|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 9392574 Sibling 82A CT C . . Gene=MIR1244-1;MT=INDEL;MM=CM;CADD=14.06;VMM=34.34;EFF=UPSTREAM(MODIFIER||24|||LINC00987|lincRNA|NON_CODING|ENST00000427111||C),DOWNSTREAM(MODIFIER||7|||PTMAP4|processed_pseudogene|NON_CODING|ENST00000426188||C),DOWNSTREAM(MODIFIER||38|||PTMAP4|processed_pseudogene|NON_CODING|ENST00000595695||C),INTRON(MODIFIER|||||A2MP1|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000566278|19|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124393840 Sibling 82A C T . . Gene=DNAH10;MT=SNP;MM=CM;CADD=23.5;VMM=119.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T3165M|4471|DNAH10|protein_coding|CODING|ENST00000409039|57|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T92M|338|DNAH10|protein_coding|CODING|ENST00000540041|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124409693 Sibling 82A C T . . Gene=DNAH10;MT=SNP;MM=CM;CADD=35;VMM=119.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R3837C|4471|DNAH10|protein_coding|CODING|ENST00000409039|67|T),UPSTREAM(MODIFIER||1620|||DNAH10|retained_intron|CODING|ENST00000545078||T),DOWNSTREAM(MODIFIER||315|||RP11-380L11.4|antisense|NON_CODING|ENST00000602952||T),DOWNSTREAM(MODIFIER||1278||163|DNAH10OS|protein_coding|CODING|ENST00000514254||T),INTRON(MODIFIER|||||CCDC92|processed_transcript|CODING|ENST00000542348|2|T),INTRON(MODIFIER|||||CCDC92|processed_transcript|CODING|ENST00000544798|3|T),EXON(MODIFIER|||||DNAH10|retained_intron|CODING|ENST00000492261|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 58547214 Sibling 83A G C . . Gene=NDRG4;MT=SNP;MM=DN;CADD=19.58;VMM=0;EFF=UTR_3_PRIME(MODIFIER||1734||391|NDRG4|protein_coding|CODING|ENST00000394282|16|C),UTR_3_PRIME(MODIFIER||1734||371|NDRG4|protein_coding|CODING|ENST00000258187|16|C),UTR_3_PRIME(MODIFIER||1734||371|NDRG4|protein_coding|CODING|ENST00000394279|16|C),UTR_3_PRIME(MODIFIER||1734||339|NDRG4|protein_coding|CODING|ENST00000566192|14|C),UTR_3_PRIME(MODIFIER||1734||357|NDRG4|protein_coding|CODING|ENST00000563799|14|C),UTR_3_PRIME(MODIFIER||1734||327|NDRG4|protein_coding|CODING|ENST00000562999|13|C),UTR_3_PRIME(MODIFIER||1734||352|NDRG4|protein_coding|CODING|ENST00000570248|15|C),UPSTREAM(MODIFIER||2178||473|SETD6|protein_coding|CODING|ENST00000219315||C),UPSTREAM(MODIFIER||2169||449|SETD6|protein_coding|CODING|ENST00000310682||C),UPSTREAM(MODIFIER||2172||404|SETD6|protein_coding|CODING|ENST00000394266||C),UPSTREAM(MODIFIER||2186||262|SETD6|nonsense_mediated_decay|CODING|ENST00000427443||C),UPSTREAM(MODIFIER||2190|||SETD6|retained_intron|CODING|ENST00000470003||C),UPSTREAM(MODIFIER||2202|||SETD6|retained_intron|CODING|ENST00000492050||C),UPSTREAM(MODIFIER||2203||182|SETD6|protein_coding|CODING|ENST00000447443||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2220|||SETD6|retained_intron|CODING|ENST00000468223||C),UPSTREAM(MODIFIER||2237|||SETD6|processed_transcript|CODING|ENST00000418480||C),UPSTREAM(MODIFIER||2481||263|SETD6|nonsense_mediated_decay|CODING|ENST00000422445||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2822|||SETD6|retained_intron|CODING|ENST00000467320||C),UPSTREAM(MODIFIER||4157|||SETD6|retained_intron|CODING|ENST00000463954||C),UPSTREAM(MODIFIER||4876|||SETD6|retained_intron|CODING|ENST00000491587||C),DOWNSTREAM(MODIFIER||1850||65|NDRG4|nonsense_mediated_decay|CODING|ENST00000566061||C),DOWNSTREAM(MODIFIER||1669||357|NDRG4|protein_coding|CODING|ENST00000568640||C),DOWNSTREAM(MODIFIER||1640||284|NDRG4|protein_coding|CODING|ENST00000569923||C),DOWNSTREAM(MODIFIER||1575||369|NDRG4|protein_coding|CODING|ENST00000356752||C),DOWNSTREAM(MODIFIER||1752||153|NDRG4|protein_coding|CODING|ENST00000569026||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1752|||NDRG4|retained_intron|CODING|ENST00000561681||C),DOWNSTREAM(MODIFIER||1378||80|NDRG4|protein_coding|CODING|ENST00000569408||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4133|||NDRG4|retained_intron|CODING|ENST00000562350||C),DOWNSTREAM(MODIFIER||3921|||NDRG4|retained_intron|CODING|ENST00000561730||C),EXON(MODIFIER|||||NDRG4|retained_intron|CODING|ENST00000421602|18|C),EXON(MODIFIER|||||NDRG4|retained_intron|CODING|ENST00000565981|4|C),EXON(MODIFIER|||||NDRG4|retained_intron|CODING|ENST00000566265|3|C),EXON(MODIFIER|||||NDRG4|retained_intron|CODING|ENST00000563209|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 17962994 Sibling 83A A T . . Gene=GEN1;MT=SNP;MM=HM;CADD=37;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K839*|908|GEN1|protein_coding|CODING|ENST00000317402|14|T),STOP_GAINED(HIGH|NONSENSE|Aag/Tag|K839*|908|GEN1|protein_coding|CODING|ENST00000381254|14|T),DOWNSTREAM(MODIFIER||957||289|GEN1|protein_coding|CODING|ENST00000528873||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1091|SMC6|protein_coding|CODING|ENST00000402989|4|T),INTRON(MODIFIER||||56|SMC6|protein_coding|CODING|ENST00000428868|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 50856478 Sibling 83A C T . . Gene=CHAT;MT=SNP;MM=CM;CADD=12.19;VMM=34.65;EFF=INTRON(MODIFIER||||748|CHAT|protein_coding|CODING|ENST00000337653|8|T),INTRON(MODIFIER||||630|CHAT|protein_coding|CODING|ENST00000339797|8|T),INTRON(MODIFIER||||630|CHAT|protein_coding|CODING|ENST00000351556|9|T),INTRON(MODIFIER||||630|CHAT|protein_coding|CODING|ENST00000395559|8|T),INTRON(MODIFIER||||666|CHAT|protein_coding|CODING|ENST00000395562|9|T),INTRON(MODIFIER||||112|CHAT|nonsense_mediated_decay|CODING|ENST00000466590|9|T),INTRON(MODIFIER||||545|CHAT|protein_coding|CODING|ENST00000455728|8|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 50856643 Sibling 83A C T . . Gene=CHAT;MT=SNP;MM=CM;CADD=26;VMM=34.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L458F|748|CHAT|protein_coding|CODING|ENST00000337653|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L340F|630|CHAT|protein_coding|CODING|ENST00000339797|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L340F|630|CHAT|protein_coding|CODING|ENST00000351556|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L340F|630|CHAT|protein_coding|CODING|ENST00000395559|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L376F|666|CHAT|protein_coding|CODING|ENST00000395562|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L340F|545|CHAT|protein_coding|CODING|ENST00000455728|9|T),UTR_3_PRIME(MODIFIER||32522||112|CHAT|nonsense_mediated_decay|CODING|ENST00000466590|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 44566238 Sibling 83A G A . . Gene=PCIF1;MT=SNP;MM=CM;CADD=12.77;VMM=37.06;EFF=INTRON(MODIFIER||||704|PCIF1|protein_coding|CODING|ENST00000372409|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 20 44569202 Sibling 83A G A . . Gene=PCIF1;MT=SNP;MM=CM;CADD=26.2;VMM=37.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R113Q|704|PCIF1|protein_coding|CODING|ENST00000372409|5|A),UPSTREAM(MODIFIER||4444|||PCIF1|processed_transcript|CODING|ENST00000479348||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 3558597 Sibling 84A T C . . Gene=CTNS;MT=SNP;MM=DN;CADD=25.8;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W138R|400|CTNS|protein_coding|CODING|ENST00000381870|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W138R|367|CTNS|protein_coding|CODING|ENST00000046640|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W30R|292|CTNS|protein_coding|CODING|ENST00000441220|4|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W138R|161|CTNS|protein_coding|CODING|ENST00000576979|5|C|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||30||19|CTNS|protein_coding|CODING|ENST00000574776|4|C|WARNING_TRANSCRIPT_NO_STOP_CODON),UTR_5_PRIME(MODIFIER||30||220|CTNS|protein_coding|CODING|ENST00000414524|4|C),UTR_5_PRIME(MODIFIER||30||27|CTNS|protein_coding|CODING|ENST00000574218|4|C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||318|||RP11-235E17.6|antisense|NON_CODING|ENST00000575741||C),DOWNSTREAM(MODIFIER||40||53|CTNS|nonsense_mediated_decay|CODING|ENST00000467663||C),DOWNSTREAM(MODIFIER||215|||CTNS|processed_transcript|CODING|ENST00000488623||C),DOWNSTREAM(MODIFIER||4784||122|CTNS|protein_coding|CODING|ENST00000399306||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 214542934 Sibling 84A G C . . Gene=PTPN14;MT=SNP;MM=CM;CADD=33;VMM=89.85;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T1046R|1187|PTPN14|protein_coding|CODING|ENST00000366956|17|C),UTR_3_PRIME(MODIFIER||28356||211|PTPN14|protein_coding|CODING|ENST00000543945|15|C),DOWNSTREAM(MODIFIER||2655|||PTPN14|processed_transcript|CODING|ENST00000473261||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 214576221 Sibling 84A C T . . Gene=PTPN14;MT=SNP;MM=CM;CADD=20.3;VMM=89.85;EFF=SPLICE_SITE_REGION+INTRON(LOW||||1187|PTPN14|protein_coding|CODING|ENST00000366956|6|T),SPLICE_SITE_REGION+INTRON(LOW||||211|PTPN14|protein_coding|CODING|ENST00000543945|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 76883842 Sibling 84A C T . . Gene=MYO7A;MT=SNP;MM=CM;CADD=35;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R616W|2215|MYO7A|protein_coding|CODING|ENST00000409709|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R616W|1178|MYO7A|protein_coding|CODING|ENST00000409893|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R616W|2175|MYO7A|protein_coding|CODING|ENST00000458637|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R605W|2166|MYO7A|protein_coding|CODING|ENST00000409619|17|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 76890919 Sibling 84A C T . . Gene=MYO7A;MT=SNP;MM=CM;CADD=34;VMM=203.01;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R836C|2215|MYO7A|protein_coding|CODING|ENST00000409709|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R836C|1178|MYO7A|protein_coding|CODING|ENST00000409893|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R836C|2175|MYO7A|protein_coding|CODING|ENST00000458637|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R825C|2166|MYO7A|protein_coding|CODING|ENST00000409619|22|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R17C|1357|MYO7A|protein_coding|CODING|ENST00000458169|1|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4812|||MYO7A|retained_intron|CODING|ENST00000467137||T),EXON(MODIFIER|||||MYO7A|retained_intron|CODING|ENST00000481328|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 105923810 Sibling 84A A T . . Gene=KBTBD3;MT=SNP;MM=CM;CADD=22;VMM=51.78;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S536T|612|KBTBD3|protein_coding|CODING|ENST00000526793|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S457T|533|KBTBD3|protein_coding|CODING|ENST00000534815|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tct/Act|S536T|612|KBTBD3|protein_coding|CODING|ENST00000531837|4|T),DOWNSTREAM(MODIFIER||1270||32|KBTBD3|protein_coding|CODING|ENST00000532662||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4343||91|KBTBD3|protein_coding|CODING|ENST00000531482||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 11 105948056 Sibling 84A G A . . Gene=KBTBD3;MT=SNP;MM=CM;CADD=19.46;VMM=51.78;EFF=START_GAINED(LOW||||612|KBTBD3|protein_coding|CODING|ENST00000526793|1|A),START_GAINED(LOW||||533|KBTBD3|protein_coding|CODING|ENST00000534815|1|A),START_GAINED(LOW||||612|KBTBD3|protein_coding|CODING|ENST00000531837|1|A),UTR_5_PRIME(MODIFIER||18232||612|KBTBD3|protein_coding|CODING|ENST00000526793|1|A),UTR_5_PRIME(MODIFIER||22878||533|KBTBD3|protein_coding|CODING|ENST00000534815|1|A),UTR_5_PRIME(MODIFIER||18232||612|KBTBD3|protein_coding|CODING|ENST00000531837|1|A),UPSTREAM(MODIFIER||160||309|AASDHPPT|protein_coding|CODING|ENST00000278618||A),UPSTREAM(MODIFIER||629||32|KBTBD3|protein_coding|CODING|ENST00000532662||A|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||690|||KBTBD3|retained_intron|CODING|ENST00000528483||A),UPSTREAM(MODIFIER||329||138|AASDHPPT|nonsense_mediated_decay|CODING|ENST00000525660||A),INTRON(MODIFIER||||159|AASDHPPT|protein_coding|CODING|ENST00000533423|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||189|AASDHPPT|protein_coding|CODING|ENST00000524411|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||KBTBD3|retained_intron|CODING|ENST00000526805|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 101565136 Sibling 84A C T . . Gene=LRRK1;MT=SNP;MM=CM;CADD=19.13;VMM=39.56;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A732|2015|LRRK1|protein_coding|CODING|ENST00000388948|16|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A729|2012|LRRK1|protein_coding|CODING|ENST00000284395|17|T),UTR_3_PRIME(MODIFIER||129||689|LRRK1|nonsense_mediated_decay|CODING|ENST00000525284|15|T),UTR_3_PRIME(MODIFIER||124||650|LRRK1|nonsense_mediated_decay|CODING|ENST00000531270|15|T),EXON(MODIFIER|||||LRRK1|retained_intron|CODING|ENST00000525617|3|T),EXON(MODIFIER|||||LRRK1|retained_intron|CODING|ENST00000538064|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 101609865 Sibling 84A T C . . Gene=LRRK1;MT=SNP;MM=CM;CADD=17.87;VMM=39.56;EFF=UTR_3_PRIME(MODIFIER||812||2015|LRRK1|protein_coding|CODING|ENST00000388948|34|C),UTR_3_PRIME(MODIFIER||812||2012|LRRK1|protein_coding|CODING|ENST00000284395|35|C),UTR_3_PRIME(MODIFIER||2339||659|LRRK1|nonsense_mediated_decay|CODING|ENST00000526457|10|C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||592||689|LRRK1|nonsense_mediated_decay|CODING|ENST00000525284||C),DOWNSTREAM(MODIFIER||592||650|LRRK1|nonsense_mediated_decay|CODING|ENST00000531270||C),DOWNSTREAM(MODIFIER||4180|||LRRK1|processed_transcript|CODING|ENST00000525395||C),INTRON(MODIFIER|||||RP11-505E24.2|antisense|NON_CODING|ENST00000559857|1|C),EXON(MODIFIER|||||LRRK1|processed_transcript|CODING|ENST00000532145|4|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15128153 Sibling 84A A C . . Gene=PDXDC1;MT=SNP;MM=CM;CADD=22.7;VMM=44.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N626T|806|PDXDC1|protein_coding|CODING|ENST00000563679|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N593T|773|PDXDC1|protein_coding|CODING|ENST00000325823|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N517T|697|PDXDC1|protein_coding|CODING|ENST00000447912|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N608T|788|PDXDC1|protein_coding|CODING|ENST00000396410|20|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N581T|761|PDXDC1|protein_coding|CODING|ENST00000569715|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N580T|760|PDXDC1|protein_coding|CODING|ENST00000450288|19|C),UTR_3_PRIME(MODIFIER||998||64|PDXDC1|nonsense_mediated_decay|CODING|ENST00000562119|6|C),DOWNSTREAM(MODIFIER||3557||310|NTAN1|protein_coding|CODING|ENST00000287706||C),DOWNSTREAM(MODIFIER||4491||429|PDXDC1|protein_coding|CODING|ENST00000455313||C),DOWNSTREAM(MODIFIER||1643|||PDXDC1|retained_intron|CODING|ENST00000566633||C),DOWNSTREAM(MODIFIER||3558|||NTAN1|retained_intron|CODING|ENST00000566542||C),DOWNSTREAM(MODIFIER||3578||45|NTAN1|nonsense_mediated_decay|CODING|ENST00000565187||C),DOWNSTREAM(MODIFIER||3849||18|NTAN1|nonsense_mediated_decay|CODING|ENST00000568738||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4278||145|NTAN1|protein_coding|CODING|ENST00000568320||C|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||4280||222|NTAN1|protein_coding|CODING|ENST00000566419||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4312|||NTAN1|retained_intron|CODING|ENST00000570292||C),INTRON(MODIFIER||||498|PDXDC1|protein_coding|CODING|ENST00000535621|16|C),EXON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000570001|19|C),EXON(MODIFIER|||||PDXDC1|retained_intron|CODING|ENST00000565986|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 15141966 Sibling 84A T TA . . Gene=PDXDC1;MT=INDEL;MM=CM;CADD=16.8;VMM=44.74;EFF=UPSTREAM(MODIFIER||2056|||NTAN1|retained_intron|CODING|ENST00000566542||TA),UPSTREAM(MODIFIER||616||18|NTAN1|nonsense_mediated_decay|CODING|ENST00000568738||TA|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||310|NTAN1|protein_coding|CODING|ENST00000287706|1|TA),INTRON(MODIFIER||||498|PDXDC1|protein_coding|CODING|ENST00000535621|16|TA),INTRON(MODIFIER||||45|NTAN1|nonsense_mediated_decay|CODING|ENST00000565187|1|TA),INTRON(MODIFIER||||145|NTAN1|protein_coding|CODING|ENST00000568320|1|TA|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||222|NTAN1|protein_coding|CODING|ENST00000566419|1|TA|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||27|NTAN1|nonsense_mediated_decay|CODING|ENST00000563940|1|TA|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||NTAN1|retained_intron|CODING|ENST00000567030|1|TA),INTRON(MODIFIER|||||NTAN1|retained_intron|CODING|ENST00000567420|1|TA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 40949562 Sibling 84A T A . . Gene=COA3;MT=SNP;MM=CM;CADD=17.98;VMM=30.43;EFF=UPSTREAM(MODIFIER||1248||330|CNTD1|protein_coding|CODING|ENST00000588408||A),UPSTREAM(MODIFIER||1256||175|CNTD1|protein_coding|CODING|ENST00000585355||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1310||59|CNTD1|nonsense_mediated_decay|CODING|ENST00000592166||A),UPSTREAM(MODIFIER||1326|||CNTD1|processed_transcript|CODING|ENST00000591559||A),UPSTREAM(MODIFIER||1343||247|CNTD1|protein_coding|CODING|ENST00000588527||A),DOWNSTREAM(MODIFIER||608||1243|WNK4|protein_coding|CODING|ENST00000246914||A),DOWNSTREAM(MODIFIER||90||106|COA3|protein_coding|CODING|ENST00000328434||A),DOWNSTREAM(MODIFIER||608||469|WNK4|nonsense_mediated_decay|CODING|ENST00000591448||A),DOWNSTREAM(MODIFIER||3055|||WNK4|retained_intron|CODING|ENST00000592072||A),DOWNSTREAM(MODIFIER||1802||61|WNK4|protein_coding|CODING|ENST00000587745||A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||71|COA3|nonsense_mediated_decay|CODING|ENST00000586680|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 40950793 Sibling 84A C T . . Gene=COA3;MT=SNP;MM=CM;CADD=15.16;VMM=30.43;EFF=MOTIF[MA0147.1:Cmyc](LOW||||||||||T),UPSTREAM(MODIFIER||71||106|COA3|protein_coding|CODING|ENST00000328434||T),UPSTREAM(MODIFIER||17||330|CNTD1|protein_coding|CODING|ENST00000588408||T),UPSTREAM(MODIFIER||85||71|COA3|nonsense_mediated_decay|CODING|ENST00000586680||T),UPSTREAM(MODIFIER||25||175|CNTD1|protein_coding|CODING|ENST00000585355||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||79||59|CNTD1|nonsense_mediated_decay|CODING|ENST00000592166||T),UPSTREAM(MODIFIER||95|||CNTD1|processed_transcript|CODING|ENST00000591559||T),UPSTREAM(MODIFIER||112||247|CNTD1|protein_coding|CODING|ENST00000588527||T),DOWNSTREAM(MODIFIER||1839||1243|WNK4|protein_coding|CODING|ENST00000246914||T),DOWNSTREAM(MODIFIER||1839||469|WNK4|nonsense_mediated_decay|CODING|ENST00000591448||T),DOWNSTREAM(MODIFIER||4286|||WNK4|retained_intron|CODING|ENST00000592072||T),DOWNSTREAM(MODIFIER||3033||61|WNK4|protein_coding|CODING|ENST00000587745||T|WARNING_TRANSCRIPT_INCOMPLETE),INTERGENIC(MODIFIER||||||||||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 67081278 Sibling 84A A G . . Gene=ABCA6;MT=SNP;MM=CM;CADD=29.1;VMM=42.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C1359R|1617|ABCA6|protein_coding|CODING|ENST00000284425|32|G),DOWNSTREAM(MODIFIER||517|||ABCA6|retained_intron|CODING|ENST00000589482||G),EXON(MODIFIER|||||ABCA6|processed_transcript|CODING|ENST00000446604|11|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 67138116 Sibling 84A T C . . Gene=ABCA6;MT=SNP;MM=CM;CADD=13.14;VMM=42.99;EFF=UPSTREAM(MODIFIER||101||1617|ABCA6|protein_coding|CODING|ENST00000284425||C),UPSTREAM(MODIFIER||87||185|ABCA6|protein_coding|CODING|ENST00000590645||C),INTERGENIC(MODIFIER||||||||||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 151055119 Sibling 84A C A . . Gene=PLEKHG1;MT=SNP;MM=CM;CADD=11.84;VMM=32.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T101K|1385|PLEKHG1|protein_coding|CODING|ENST00000358517|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T101K|1385|PLEKHG1|protein_coding|CODING|ENST00000367328|3|A),DOWNSTREAM(MODIFIER||162||45|PLEKHG1|protein_coding|CODING|ENST00000367326||A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 151161707 Sibling 84A A G . . Gene=PLEKHG1;MT=SNP;MM=CM;CADD=25.4;VMM=32.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D1278G|1385|PLEKHG1|protein_coding|CODING|ENST00000358517|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|D1278G|1385|PLEKHG1|protein_coding|CODING|ENST00000367328|17|G),INTRON(MODIFIER||||392|PLEKHG1|nonsense_mediated_decay|CODING|ENST00000475490|13|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 32674927 Sibling 85A T C . . Gene=DCDC2B;MT=SNP;MM=CM;CADD=26.2;VMM=100.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V78A|349|DCDC2B|protein_coding|CODING|ENST00000409358|1|C),UPSTREAM(MODIFIER||2512|||RP4-622L5.7|antisense|NON_CODING|ENST00000421616||C),UPSTREAM(MODIFIER||3141|||RP4-622L5.7|antisense|NON_CODING|ENST00000373604||C),DOWNSTREAM(MODIFIER||3939||241|CCDC28B|protein_coding|CODING|ENST00000421922||C),DOWNSTREAM(MODIFIER||639||546|IQCC|protein_coding|CODING|ENST00000537469||C),DOWNSTREAM(MODIFIER||3939||200|CCDC28B|protein_coding|CODING|ENST00000373602||C),DOWNSTREAM(MODIFIER||3943||129|CCDC28B|nonsense_mediated_decay|CODING|ENST00000461819||C),DOWNSTREAM(MODIFIER||4112|||CCDC28B|processed_transcript|CODING|ENST00000483009||C),DOWNSTREAM(MODIFIER||639||466|IQCC|protein_coding|CODING|ENST00000291358||C),EXON(MODIFIER|||||DCDC2B|retained_intron|CODING|ENST00000487056|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 32681129 Sibling 85A G C . . Gene=DCDC2B;MT=SNP;MM=CM;CADD=27.5;VMM=100.95;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E313D|349|DCDC2B|protein_coding|CODING|ENST00000409358|8|C),UTR_3_PRIME(MODIFIER||882||164|TMEM234|nonsense_mediated_decay|CODING|ENST00000461402|8|C),DOWNSTREAM(MODIFIER||669||180|TMEM234|protein_coding|CODING|ENST00000373593||C),DOWNSTREAM(MODIFIER||319||164|TMEM234|nonsense_mediated_decay|CODING|ENST00000483001||C),DOWNSTREAM(MODIFIER||568||161|TMEM234|protein_coding|CODING|ENST00000545122||C),DOWNSTREAM(MODIFIER||669||140|TMEM234|protein_coding|CODING|ENST00000309777||C),DOWNSTREAM(MODIFIER||672||164|TMEM234|protein_coding|CODING|ENST00000344461||C),DOWNSTREAM(MODIFIER||829||67|TMEM234|nonsense_mediated_decay|CODING|ENST00000484490||C),DOWNSTREAM(MODIFIER||1061|||TMEM234|processed_transcript|CODING|ENST00000485689||C),DOWNSTREAM(MODIFIER||1202|||TMEM234|retained_intron|CODING|ENST00000487174||C),INTRON(MODIFIER|||||TMEM234|processed_transcript|CODING|ENST00000495091|1|C),INTRON(MODIFIER||||96|TMEM234|nonsense_mediated_decay|CODING|ENST00000491434|9|C),INTRON(MODIFIER||||164|TMEM234|nonsense_mediated_decay|CODING|ENST00000489170|8|C),EXON(MODIFIER|||||DCDC2B|retained_intron|CODING|ENST00000487056|6|C),EXON(MODIFIER|||||TMEM234|retained_intron|CODING|ENST00000466796|3|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 6678030 Sibling 85A T G . . Gene=C3;MT=SNP;MM=CM;CADD=15.15;VMM=46.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Cgc|S1619R|1663|C3|protein_coding|CODING|ENST00000245907|41|G),NEXT_PROT[beta-strand:combinatorial_evidence_used_in_manual_assertion](LOW||||1663|C3|protein_coding|CODING||41|G),UTR_3_PRIME(MODIFIER||129||99|C3|protein_coding|CODING|ENST00000602229|3|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2140||191|C3|protein_coding|CODING|ENST00000596548||G|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||100|C3|protein_coding|CODING|ENST00000601008|2|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||C3|retained_intron|CODING|ENST00000601475|2|G),EXON(MODIFIER|||||C3|retained_intron|CODING|ENST00000599899|8|G),EXON(MODIFIER|||||C3|processed_transcript|CODING|ENST00000599668|6|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 19 6679172 Sibling 85A G A . . Gene=C3;MT=SNP;MM=CM;CADD=26.5;VMM=46.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1532W|1663|C3|protein_coding|CODING|ENST00000245907|38|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R14W|99|C3|protein_coding|CODING|ENST00000602229|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||831|||C3|retained_intron|CODING|ENST00000601475||A),DOWNSTREAM(MODIFIER||998||191|C3|protein_coding|CODING|ENST00000596548||A|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||100|C3|protein_coding|CODING|ENST00000601008|2|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||C3|retained_intron|CODING|ENST00000599899|5|A),EXON(MODIFIER|||||C3|processed_transcript|CODING|ENST00000599668|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 64708844 Sibling 85A TGA T . . Gene=EYS;MT=INDEL;MM=CM;CADD=14.95;VMM=41.55;EFF=INTRON(MODIFIER||||3165|EYS|protein_coding|CODING|ENST00000370616|31|T),INTRON(MODIFIER||||3144|EYS|protein_coding|CODING|ENST00000503581|34|T),INTRON(MODIFIER||||3165|EYS|protein_coding|CODING|ENST00000370621|34|T),INTRON(MODIFIER||||472|EYS|protein_coding|CODING|ENST00000398580|2|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 6 65622422 Sibling 85A A G . . Gene=EYS;MT=SNP;MM=CM;CADD=24.2;VMM=41.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C866R|3165|EYS|protein_coding|CODING|ENST00000370616|13|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C866R|3144|EYS|protein_coding|CODING|ENST00000503581|16|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C866R|3165|EYS|protein_coding|CODING|ENST00000370621|16|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 88642647 Sibling 85A TCA T . . Gene=GOLM1;MT=INDEL;MM=CM;CADD=14.05;VMM=36.36;EFF=UTR_3_PRIME(MODIFIER||83||401|GOLM1|protein_coding|CODING|ENST00000388711|10|T),UTR_3_PRIME(MODIFIER||83||401|GOLM1|protein_coding|CODING|ENST00000388712|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 9 88648217 Sibling 85A C T . . Gene=GOLM1;MT=SNP;MM=CM;CADD=23;VMM=36.36;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G370E|401|GOLM1|protein_coding|CODING|ENST00000388711|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gAg|G370E|401|GOLM1|protein_coding|CODING|ENST00000388712|9|T),DOWNSTREAM(MODIFIER||2093|||GOLM1|retained_intron|CODING|ENST00000464314||T),DOWNSTREAM(MODIFIER||2286|||GOLM1|processed_transcript|CODING|ENST00000257504||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 28597490 Sibling 86A C T . . Gene=FLT3;MT=SNP;MM=CM;CADD=16.12;VMM=57.96;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||993|FLT3|protein_coding|CODING||19|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K805|996|FLT3|protein_coding|CODING|ENST00000380982|19|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K805|993|FLT3|protein_coding|CODING|ENST00000241453|19|T),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|K805|952|FLT3|protein_coding|CODING|ENST00000537084|19|T),UTR_3_PRIME(MODIFIER||2050||739|FLT3|nonsense_mediated_decay|CODING|ENST00000380987|20|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 28597502 Sibling 86A A C . . Gene=FLT3;MT=SNP;MM=CM;CADD=29.8;VMM=57.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttG|F801L|996|FLT3|protein_coding|CODING|ENST00000380982|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttG|F801L|993|FLT3|protein_coding|CODING|ENST00000241453|19|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttT/ttG|F801L|952|FLT3|protein_coding|CODING|ENST00000537084|19|C),UTR_3_PRIME(MODIFIER||2038||739|FLT3|nonsense_mediated_decay|CODING|ENST00000380987|20|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 53238204 Sibling 86A TA T . . Gene=STYX;MT=INDEL;MM=CM;CADD=22.8;VMM=43.11;EFF=UTR_3_PRIME(MODIFIER||381||223|STYX|protein_coding|CODING|ENST00000354586|11|T),UTR_3_PRIME(MODIFIER||381||223|STYX|protein_coding|CODING|ENST00000442123|12|T),UPSTREAM(MODIFIER||3750|||RP11-589M4.1|antisense|NON_CODING|ENST00000555969||T),UPSTREAM(MODIFIER||4865|||RP11-589M4.1|antisense|NON_CODING|ENST00000555689||T),DOWNSTREAM(MODIFIER||3707||184|GNPNAT1|protein_coding|CODING|ENST00000216410||T),DOWNSTREAM(MODIFIER||4377|||GNPNAT1|processed_transcript|CODING|ENST00000554421||T),INTRON(MODIFIER|||||STYX|processed_transcript|CODING|ENST00000556861|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 53240974 Sibling 86A A C . . Gene=STYX;MT=SNP;MM=CM;CADD=16.24;VMM=43.11;EFF=UTR_3_PRIME(MODIFIER||3150||223|STYX|protein_coding|CODING|ENST00000354586|11|C),UTR_3_PRIME(MODIFIER||3150||223|STYX|protein_coding|CODING|ENST00000442123|12|C),UPSTREAM(MODIFIER||981|||RP11-589M4.1|antisense|NON_CODING|ENST00000555969||C),UPSTREAM(MODIFIER||2096|||RP11-589M4.1|antisense|NON_CODING|ENST00000555689||C),DOWNSTREAM(MODIFIER||938||184|GNPNAT1|protein_coding|CODING|ENST00000216410||C),DOWNSTREAM(MODIFIER||1608|||GNPNAT1|processed_transcript|CODING|ENST00000554421||C),DOWNSTREAM(MODIFIER||2301||113|GNPNAT1|protein_coding|CODING|ENST00000554230||C),DOWNSTREAM(MODIFIER||4119||162|GNPNAT1|protein_coding|CODING|ENST00000557604||C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||STYX|processed_transcript|CODING|ENST00000556861|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7673930 Sibling 86A A G . . Gene=DNAH2;MT=SNP;MM=CM;CADD=27.3;VMM=46.84;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1385C|4427|DNAH2|protein_coding|CODING|ENST00000389173|25|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tAc/tGc|Y1385C|4427|DNAH2|protein_coding|CODING|ENST00000572933|26|G),UTR_3_PRIME(MODIFIER||2651||260|DNAH2|nonsense_mediated_decay|CODING|ENST00000574518|8|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 17 7689630 Sibling 86A C T . . Gene=DNAH2;MT=SNP;MM=CM;CADD=14.79;VMM=46.84;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R2106|4427|DNAH2|protein_coding|CODING|ENST00000389173|39|T),SYNONYMOUS_CODING(LOW|SILENT|cgC/cgT|R2106|4427|DNAH2|protein_coding|CODING|ENST00000572933|40|T),UTR_3_PRIME(MODIFIER||18351||260|DNAH2|nonsense_mediated_decay|CODING|ENST00000574518|21|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 74103454 Sibling 86A A G . . Gene=GTF2I;MT=SNP;MM=CM;CADD=14.03;VMM=42.86;EFF=SPLICE_SITE_REGION+INTRON(LOW||||998|GTF2I|protein_coding|CODING|ENST00000324896|1|G),SPLICE_SITE_REGION+INTRON(LOW||||977|GTF2I|protein_coding|CODING|ENST00000346152|1|G),SPLICE_SITE_REGION+INTRON(LOW||||978|GTF2I|protein_coding|CODING|ENST00000353920|1|G),SPLICE_SITE_REGION+INTRON(LOW||||957|GTF2I|protein_coding|CODING|ENST00000416070|1|G),SPLICE_SITE_REGION+INTRON(LOW||||274|GTF2I|protein_coding|CODING|ENST00000443166|1|G),SPLICE_SITE_REGION+INTRON(LOW||||105|GTF2I|protein_coding|CODING|ENST00000432143|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||GTF2I|processed_transcript|CODING|ENST00000485000|1|G),EXON(MODIFIER|||||AC083884.8|antisense|NON_CODING|ENST00000450426|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 74103512 Sibling 86A C T . . Gene=GTF2I;MT=SNP;MM=CM;CADD=26.8;VMM=42.86;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|998|GTF2I|protein_coding|CODING|ENST00000324896|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|977|GTF2I|protein_coding|CODING|ENST00000346152|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|978|GTF2I|protein_coding|CODING|ENST00000353920|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|957|GTF2I|protein_coding|CODING|ENST00000416070|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|274|GTF2I|protein_coding|CODING|ENST00000443166|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S17L|105|GTF2I|protein_coding|CODING|ENST00000432143|2|T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||GTF2I|processed_transcript|CODING|ENST00000485000|1|T),EXON(MODIFIER|||||AC083884.8|antisense|NON_CODING|ENST00000450426|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 15 89074906 Sibling 87A G A . . Gene=DET1;MT=SNP;MM=DN;CADD=35;VMM=0;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R22*|561|DET1|protein_coding|CODING|ENST00000444300|2|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R11*|67|DET1|nonsense_mediated_decay|CODING|ENST00000557842|2|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R22*|561|DET1|protein_coding|CODING|ENST00000564406|3|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R11*|67|DET1|nonsense_mediated_decay|CODING|ENST00000557837|2|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R11*|550|DET1|protein_coding|CODING|ENST00000268148|2|A),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R11*|94|DET1|protein_coding|CODING|ENST00000558413|2|A),DOWNSTREAM(MODIFIER||193|||DET1|processed_transcript|CODING|ENST00000559656||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ibling 87A C T . . Gene=TRNT1;MT=SNP;MM=DN;CADD=34;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A148V|434|TRNT1|protein_coding|CODING|ENST00000251607|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A148V|414|TRNT1|protein_coding|CODING|ENST00000280591|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A148V|434|TRNT1|nonsense_mediated_decay|CODING|ENST00000434583|4|T),DOWNSTREAM(MODIFIER||3313||61|TRNT1|protein_coding|CODING|ENST00000413000||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||3248||65|TRNT1|nonsense_mediated_decay|CODING|ENST00000397779||T),EXON(MODIFIER|||||TRNT1|retained_intron|CODING|ENST00000482311|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 64608535 Sibling 87A T C . . Gene=SYNE2;MT=SNP;MM=CM;CADD=16.24;VMM=70.46;EFF=INTRON(MODIFIER||||6907|SYNE2|protein_coding|CODING|ENST00000358025|81|C),INTRON(MODIFIER||||3270|SYNE2|protein_coding|CODING|ENST00000357395|82|C),INTRON(MODIFIER||||6885|SYNE2|protein_coding|CODING|ENST00000344113|81|C),INTRON(MODIFIER||||6818|SYNE2|protein_coding|CODING|ENST00000554584|79|C),INTRON(MODIFIER||||3541|SYNE2|protein_coding|CODING|ENST00000555002|32|C),INTRON(MODIFIER||||3270|SYNE2|protein_coding|CODING|ENST00000394768|29|C),INTRON(MODIFIER||||513|ESR2|protein_coding|CODING|ENST00000542956|8|C),INTRON(MODIFIER||||467|ESR2|protein_coding|CODING|ENST00000556275|8|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||1113|SYNE2|nonsense_mediated_decay|CODING|ENST00000555612|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 64682978 Sibling 87A C T . . Gene=SYNE2;MT=SNP;MM=CM;CADD=35;VMM=70.46;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S6472L|6907|SYNE2|protein_coding|CODING|ENST00000358025|108|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S2834L|3270|SYNE2|protein_coding|CODING|ENST00000357395|108|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S6449L|6885|SYNE2|protein_coding|CODING|ENST00000344113|107|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S6391L|6818|SYNE2|protein_coding|CODING|ENST00000554584|108|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S3106L|3541|SYNE2|protein_coding|CODING|ENST00000555002|59|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S2834L|3270|SYNE2|protein_coding|CODING|ENST00000394768|55|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S327L|763|SYNE2|protein_coding|CODING|ENST00000555022|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S232L|668|SYNE2|protein_coding|CODING|ENST00000554805|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S106L|556|SYNE2|protein_coding|CODING|ENST00000458046|3|T),START_GAINED(LOW||||429|SYNE2|protein_coding|CODING|ENST00000441438|1|T),UTR_5_PRIME(MODIFIER||62||429|SYNE2|protein_coding|CODING|ENST00000441438|1|T),UTR_3_PRIME(MODIFIER||7483||1113|SYNE2|nonsense_mediated_decay|CODING|ENST00000555612|28|T),UTR_3_PRIME(MODIFIER||13373||570|SYNE2|nonsense_mediated_decay|CODING|ENST00000553289|19|T),UTR_3_PRIME(MODIFIER||1934||40|SYNE2|nonsense_mediated_decay|CODING|ENST00000557084|2|T),UPSTREAM(MODIFIER||1972|||SYNE2|retained_intron|CODING|ENST00000554928||T),DOWNSTREAM(MODIFIER||3285|||SYNE2|retained_intron|CODING|ENST00000553806||T),DOWNSTREAM(MODIFIER||3394|||SYNE2|retained_intron|CODING|ENST00000554997||T),DOWNSTREAM(MODIFIER||1736|||SYNE2|retained_intron|CODING|ENST00000557307||T),INTRON(MODIFIER||||513|ESR2|protein_coding|CODING|ENST00000542956|8|T),INTRON(MODIFIER||||467|ESR2|protein_coding|CODING|ENST00000556275|8|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 89985750 Sibling 87A C CA . . Gene=MC1R,TUBB3;MT=INDEL;MM=CM;CADD=24.1;VMM=109.89;EFF=FRAME_SHIFT(HIGH||aac/Aaac|N29K?|382|MC1R|protein_coding|CODING|ENST00000555427|3|CA),FRAME_SHIFT(HIGH||aac/Aaac|N29K?|797|TUBB3|protein_coding|CODING|ENST00000556922|1|CA),FRAME_SHIFT(HIGH||aac/Aaac|N29K?|317|MC1R|protein_coding|CODING|ENST00000555147|1|CA),NEXT_PROT[glycosylation-site:N-linked__GlcNAc..._](MODERATE||||317|MC1R|protein_coding|CODING||1|CA),UPSTREAM(MODIFIER||3936||450|TUBB3|protein_coding|CODING|ENST00000315491||CA),UPSTREAM(MODIFIER||2049||188|TUBB3|protein_coding|CODING|ENST00000555810||CA|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2508||378|TUBB3|protein_coding|CODING|ENST00000554444||CA),UPSTREAM(MODIFIER||2573||45|TUBB3|protein_coding|CODING|ENST00000556565||CA|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3995||51|TUBB3|nonsense_mediated_decay|CODING|ENST00000553656||CA),UPSTREAM(MODIFIER||3999||148|TUBB3|nonsense_mediated_decay|CODING|ENST00000556536||CA),UPSTREAM(MODIFIER||4002|||TUBB3|processed_transcript|CODING|ENST00000554116||CA),UPSTREAM(MODIFIER||4002|||TUBB3|retained_intron|CODING|ENST00000554927||CA),UPSTREAM(MODIFIER||4002||51|TUBB3|nonsense_mediated_decay|CODING|ENST00000557262||CA),UPSTREAM(MODIFIER||4002||87|TUBB3|nonsense_mediated_decay|CODING|ENST00000557490||CA),UPSTREAM(MODIFIER||4002||97|TUBB3|protein_coding|CODING|ENST00000555576||CA),UPSTREAM(MODIFIER||4011||118|TUBB3|protein_coding|CODING|ENST00000554336||CA),UPSTREAM(MODIFIER||4016||55|TUBB3|nonsense_mediated_decay|CODING|ENST00000555609||CA),UPSTREAM(MODIFIER||4023||164|TUBB3|protein_coding|CODING|ENST00000553967||CA),DOWNSTREAM(MODIFIER||1110|||RP11-566K11.7|retained_intron|NON_CODING|ENST00000570217||CA),DOWNSTREAM(MODIFIER||484|||RP11-566K11.4|antisense|NON_CODING|ENST00000554623||CA),DOWNSTREAM(MODIFIER||4175|||MC1R|retained_intron|CODING|ENST00000539976||CA),EXON(MODIFIER|||||AC092143.1|pseudogene|NON_CODING|ENST00000540694|2|CA) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 16 89986091 Sibling 87A G A . . Gene=MC1R,TUBB3;MT=SNP;MM=CM;CADD=32;VMM=109.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R142H|382|MC1R|protein_coding|CODING|ENST00000555427|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R142H|797|TUBB3|protein_coding|CODING|ENST00000556922|1|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R142H|317|MC1R|protein_coding|CODING|ENST00000555147|1|A),UPSTREAM(MODIFIER||3596||450|TUBB3|protein_coding|CODING|ENST00000315491||A),UPSTREAM(MODIFIER||1709||188|TUBB3|protein_coding|CODING|ENST00000555810||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2168||378|TUBB3|protein_coding|CODING|ENST00000554444||A),UPSTREAM(MODIFIER||2233||45|TUBB3|protein_coding|CODING|ENST00000556565||A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3655||51|TUBB3|nonsense_mediated_decay|CODING|ENST00000553656||A),UPSTREAM(MODIFIER||3659||148|TUBB3|nonsense_mediated_decay|CODING|ENST00000556536||A),UPSTREAM(MODIFIER||3662|||TUBB3|processed_transcript|CODING|ENST00000554116||A),UPSTREAM(MODIFIER||3662|||TUBB3|retained_intron|CODING|ENST00000554927||A),UPSTREAM(MODIFIER||3662||51|TUBB3|nonsense_mediated_decay|CODING|ENST00000557262||A),UPSTREAM(MODIFIER||3662||87|TUBB3|nonsense_mediated_decay|CODING|ENST00000557490||A),UPSTREAM(MODIFIER||3662||97|TUBB3|protein_coding|CODING|ENST00000555576||A),UPSTREAM(MODIFIER||3671||118|TUBB3|protein_coding|CODING|ENST00000554336||A),UPSTREAM(MODIFIER||3676||55|TUBB3|nonsense_mediated_decay|CODING|ENST00000555609||A),UPSTREAM(MODIFIER||3683||164|TUBB3|protein_coding|CODING|ENST00000553967||A),DOWNSTREAM(MODIFIER||1450|||RP11-566K11.7|retained_intron|NON_CODING|ENST00000570217||A),DOWNSTREAM(MODIFIER||144|||RP11-566K11.4|antisense|NON_CODING|ENST00000554623||A),DOWNSTREAM(MODIFIER||4515|||MC1R|retained_intron|CODING|ENST00000539976||A),EXON(MODIFIER|||||AC092143.1|pseudogene|NON_CODING|ENST00000540694|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 158595155 Sibling 87A G T . . Gene=ACVR1;MT=SNP;MM=CM;CADD=12.98;VMM=35.25;EFF=UPSTREAM(MODIFIER||2638|||AC019186.1|lincRNA|NON_CODING|ENST00000447019||T),INTRON(MODIFIER||||509|ACVR1|protein_coding|CODING|ENST00000263640|9|T),INTRON(MODIFIER||||509|ACVR1|protein_coding|CODING|ENST00000409283|8|T),INTRON(MODIFIER||||509|ACVR1|protein_coding|CODING|ENST00000434821|9|T),INTRON(MODIFIER||||509|ACVR1|protein_coding|CODING|ENST00000410057|10|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 2 158626913 Sibling 87A T C . . Gene=ACVR1;MT=SNP;MM=CM;CADD=24.5;VMM=35.25;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N253D|509|ACVR1|protein_coding|CODING|ENST00000263640|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N253D|509|ACVR1|protein_coding|CODING|ENST00000409283|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N253D|509|ACVR1|protein_coding|CODING|ENST00000434821|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aac/Gac|N253D|509|ACVR1|protein_coding|CODING|ENST00000410057|8|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 22 21327724 Sibling 88A C T . . Gene=AIFM3;MT=SNP;MM=DN;CADD=24.6;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|605|AIFM3|protein_coding|CODING|ENST00000399167|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|598|AIFM3|protein_coding|CODING|ENST00000399163|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|121|AIFM3|nonsense_mediated_decay|CODING|ENST00000417515|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|128|AIFM3|protein_coding|CODING|ENST00000441376|4|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|268|AIFM3|protein_coding|CODING|ENST00000434714|3|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R60C|604|AIFM3|protein_coding|CODING|ENST00000405089|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|598|AIFM3|protein_coding|CODING|ENST00000333607|2|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R54C|605|AIFM3|protein_coding|CODING|ENST00000440238|2|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S32|74|AIFM3|nonsense_mediated_decay|CODING|ENST00000426113|3|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S78|586|AIFM3|protein_coding|CODING|ENST00000335375|3|T),UPSTREAM(MODIFIER||1078|||AIFM3|processed_transcript|CODING|ENST00000465606||T),UPSTREAM(MODIFIER||2257|||AIFM3|processed_transcript|CODING|ENST00000483107||T),UPSTREAM(MODIFIER||3438|||AIFM3|retained_intron|CODING|ENST00000486003||T),EXON(MODIFIER|||||AIFM3|retained_intron|CODING|ENST00000467926|3|T),EXON(MODIFIER|||||AIFM3|retained_intron|CODING|ENST00000472575|4|T),EXON(MODIFIER|||||AIFM3|processed_transcript|CODING|ENST00000468124|3|T),EXON(MODIFIER|||||AIFM3|retained_intron|CODING|ENST00000484206|3|T),EXON(MODIFIER|||||AIFM3|processed_transcript|CODING|ENST00000496097|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 7 21641107 Sibling 88A G A . . Gene=DNAH11;MT=SNP;MM=DN;CADD=22.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M1173I|4523|DNAH11|protein_coding|CODING|ENST00000328843|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|atG/atA|M1173I|4516|DNAH11|protein_coding|CODING|ENST00000409508|18|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 50884536 Sibling 88A C T . . Gene=DMRTA2;MT=SNP;MM=CM;CADD=16.95;VMM=30.99;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S477N|542|DMRTA2|protein_coding|CODING|ENST00000404795|3|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S477N|542|DMRTA2|protein_coding|CODING|ENST00000418121|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 50888882 Sibling 88A C A . . Gene=DMRTA2;MT=SNP;MM=CM;CADD=16.31;VMM=30.99;EFF=START_GAINED(LOW||||542|DMRTA2|protein_coding|CODING|ENST00000404795|1|A),UTR_5_PRIME(MODIFIER||1674||542|DMRTA2|protein_coding|CODING|ENST00000404795|1|A),UPSTREAM(MODIFIER||1578||542|DMRTA2|protein_coding|CODING|ENST00000418121||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 112572147 Sibling 88A C T . . Gene=RBM20;MT=SNP;MM=CM;CADD=12.83;VMM=39.85;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|P664|1227|RBM20|protein_coding|CODING|ENST00000369519|9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 10 112581039 Sibling 88A G A . . Gene=RBM20;MT=SNP;MM=CM;CADD=27.9;VMM=39.85;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D888N|1227|RBM20|protein_coding|CODING|ENST00000369519|11|A),UPSTREAM(MODIFIER||2307|||RBM20|processed_transcript|CODING|ENST00000471172||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124824869 Sibling 88A G A . . Gene=NCOR2;MT=SNP;MM=CM;CADD=24.3;VMM=78.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1827M|2521|NCOR2|protein_coding|CODING|ENST00000356219|37|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1820M|2514|NCOR2|protein_coding|CODING|ENST00000405201|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1810M|2458|NCOR2|protein_coding|CODING|ENST00000404621|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1811M|2459|NCOR2|protein_coding|CODING|ENST00000397355|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1381M|2075|NCOR2|protein_coding|CODING|ENST00000404121|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T1810M|2504|NCOR2|protein_coding|CODING|ENST00000429285|36|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T54M|154|NCOR2|protein_coding|CODING|ENST00000440187|2|A|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aTg|T149M|223|NCOR2|protein_coding|CODING|ENST00000453428|3|A|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3931|||NCOR2|retained_intron|CODING|ENST00000461081||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 12 124862915 Sibling 88A C T . . Gene=NCOR2;MT=SNP;MM=CM;CADD=24.5;VMM=78.54;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A679T|2521|NCOR2|protein_coding|CODING|ENST00000356219|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A679T|2514|NCOR2|protein_coding|CODING|ENST00000405201|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A678T|2458|NCOR2|protein_coding|CODING|ENST00000404621|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A679T|2459|NCOR2|protein_coding|CODING|ENST00000397355|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A249T|2075|NCOR2|protein_coding|CODING|ENST00000404121|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A678T|2504|NCOR2|protein_coding|CODING|ENST00000429285|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A679T|1450|NCOR2|protein_coding|CODING|ENST00000458234|20|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcg/Acg|A69T|161|NCOR2|protein_coding|CODING|ENST00000448614|3|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 78320635 Sibling 88A T C . . Gene=SLAIN1;MT=SNP;MM=CM;CADD=10.99;VMM=38.59;EFF=DOWNSTREAM(MODIFIER||2128||78|SLAIN1|protein_coding|CODING|ENST00000377236||C|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2093||11|SLAIN1|protein_coding|CODING|ENST00000481614||C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||568|SLAIN1|protein_coding|CODING|ENST00000466548|4|C),INTRON(MODIFIER||||110|SLAIN1|protein_coding|CODING|ENST00000422114|3|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||349|SLAIN1|protein_coding|CODING|ENST00000418532|3|C),INTRON(MODIFIER||||227|SLAIN1|protein_coding|CODING|ENST00000446759|4|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||204|SLAIN1|protein_coding|CODING|ENST00000442759|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||426|SLAIN1|protein_coding|CODING|ENST00000488699|3|C),INTRON(MODIFIER||||349|SLAIN1|protein_coding|CODING|ENST00000267219|2|C),INTRON(MODIFIER||||305|SLAIN1|protein_coding|CODING|ENST00000351546|2|C),INTRON(MODIFIER|||||SLAIN1|processed_transcript|CODING|ENST00000465831|2|C),INTRON(MODIFIER||||239|SLAIN1|protein_coding|CODING|ENST00000441784|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||191|SLAIN1|protein_coding|CODING|ENST00000314070|3|C),INTRON(MODIFIER||||98|SLAIN1|protein_coding|CODING|ENST00000462234|3|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||134|SLAIN1|protein_coding|CODING|ENST00000496045|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||146|SLAIN1|protein_coding|CODING|ENST00000474663|2|C|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||305|SLAIN1|protein_coding|CODING|ENST00000358679|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 13 78334972 Sibling 88A C G . . Gene=SLAIN1;MT=SNP;MM=CM;CADD=33;VMM=38.59;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P453R|568|SLAIN1|protein_coding|CODING|ENST00000466548|7|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P234R|349|SLAIN1|protein_coding|CODING|ENST00000418532|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P311R|426|SLAIN1|protein_coding|CODING|ENST00000488699|6|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P234R|349|SLAIN1|protein_coding|CODING|ENST00000267219|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P190R|305|SLAIN1|protein_coding|CODING|ENST00000351546|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P190R|239|SLAIN1|protein_coding|CODING|ENST00000441784|5|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P76R|191|SLAIN1|protein_coding|CODING|ENST00000314070|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P190R|305|SLAIN1|protein_coding|CODING|ENST00000358679|5|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 81952737 Sibling 88A C T . . Gene=SEL1L;MT=SNP;MM=CM;CADD=23.7;VMM=31.2;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|S565N|794|SEL1L|protein_coding|CODING|ENST00000336735|17|T),UPSTREAM(MODIFIER||1865|||SEL1L|retained_intron|CODING|ENST00000554293||T),DOWNSTREAM(MODIFIER||2404|||SEL1L|retained_intron|CODING|ENST00000555923||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 14 81954511 Sibling 88A A G . . Gene=SEL1L;MT=SNP;MM=CM;CADD=12.1;VMM=31.2;EFF=UPSTREAM(MODIFIER||3639|||SEL1L|retained_intron|CODING|ENST00000554293||G),DOWNSTREAM(MODIFIER||630|||SEL1L|retained_intron|CODING|ENST00000555923||G),INTRON(MODIFIER||||794|SEL1L|protein_coding|CODING|ENST00000336735|14|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 63850228 Sibling 88A T G . . Gene=ATXN7;MT=SNP;MM=CM;CADD=16.95;VMM=32.22;EFF=UPSTREAM(MODIFIER||649||204|THOC7|protein_coding|CODING|ENST00000295899||G),UPSTREAM(MODIFIER||5||945|ATXN7|protein_coding|CODING|ENST00000398590||G),UPSTREAM(MODIFIER||684||14|THOC7|nonsense_mediated_decay|CODING|ENST00000469584||G),UPSTREAM(MODIFIER||766|||THOC7|processed_transcript|CODING|ENST00000498422||G),UPSTREAM(MODIFIER||753||16|THOC7|nonsense_mediated_decay|CODING|ENST00000464327||G),UPSTREAM(MODIFIER||5||24|ATXN7|protein_coding|CODING|ENST00000474513||G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||5|||ATXN7|retained_intron|CODING|ENST00000474112||G),UPSTREAM(MODIFIER||8||892|ATXN7|protein_coding|CODING|ENST00000295900||G),DOWNSTREAM(MODIFIER||2733|||THOC7-AS1|antisense|NON_CODING|ENST00000468961||G),INTERGENIC(MODIFIER||||||||||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 3 63850234 Sibling 88A A G . . Gene=ATXN7;MT=SNP;MM=CM;CADD=16.88;VMM=32.22;EFF=MOTIF[MA0024.1:E2F1](LOW||||||||||G),UTR_5_PRIME(MODIFIER||48041||945|ATXN7|protein_coding|CODING|ENST00000398590|1|G),UTR_5_PRIME(MODIFIER||48041||24|ATXN7|protein_coding|CODING|ENST00000474513|1|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||655||204|THOC7|protein_coding|CODING|ENST00000295899||G),UPSTREAM(MODIFIER||690||14|THOC7|nonsense_mediated_decay|CODING|ENST00000469584||G),UPSTREAM(MODIFIER||772|||THOC7|processed_transcript|CODING|ENST00000498422||G),UPSTREAM(MODIFIER||759||16|THOC7|nonsense_mediated_decay|CODING|ENST00000464327||G),UPSTREAM(MODIFIER||2||892|ATXN7|protein_coding|CODING|ENST00000295900||G),DOWNSTREAM(MODIFIER||2739|||THOC7-AS1|antisense|NON_CODING|ENST00000468961||G),EXON(MODIFIER|||||ATXN7|retained_intron|CODING|ENST00000474112|1|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ibling 88A G A . . Gene=KANK1;MT=SNP;MM=CM;CADD=29.1;VMM=104.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1024K|1352|KANK1|protein_coding|CODING|ENST00000382297|6|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1024K|1352|KANK1|protein_coding|CODING|ENST00000382303|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E866K|1194|KANK1|protein_coding|CODING|ENST00000382293|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1K|352|KANK1|protein_coding|CODING|ENST00000382289|1|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||174||283|KANK1|protein_coding|CODING|ENST00000382286||A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||KANK1|processed_transcript|CODING|ENST00000489369|6|A),EXON(MODIFIER|||||KANK1|retained_intron|CODING|ENST00000354485|4|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ibling 88A C A . . Gene=KANK1;MT=SNP;MM=CM;CADD=25.5;VMM=104.89;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P1290H|1352|KANK1|protein_coding|CODING|ENST00000382297|10|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P1290H|1352|KANK1|protein_coding|CODING|ENST00000382303|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P1132H|1194|KANK1|protein_coding|CODING|ENST00000382293|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P290H|352|KANK1|protein_coding|CODING|ENST00000382289|6|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCc/cAc|P209H|283|KANK1|protein_coding|CODING|ENST00000382286|5|A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||KANK1|processed_transcript|CODING|ENST00000489369|9|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. 1 183622545 Sibling 89A A G . . Gene=RGL1;MT=SNP;MM=CM;CADD=21.9;VMM=49.24;EFF=UPSTREAM(MODIFIER||97||367|APOBEC4|protein_coding|CODING|ENST00000308641||G),UPSTREAM(MODIFIER||94|||APOBEC4|processed_transcript|CODING|ENST00000481562||G),INTRON(MODIFIER||||803|RGL1|protein_coding|CODING|ENST00000304685|1|G),INTRON(MODIFIER||||766|RGL1|protein_coding|CODING|ENST00000536277|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 1 183711265 Sibling 89A G A . . Gene=RGL1;MT=SNP;MM=CM;CADD=18.77;VMM=49.24;EFF=UTR_5_PRIME(MODIFIER||28||803|RGL1|protein_coding|CODING|ENST00000304685|2|A),UTR_5_PRIME(MODIFIER||28||766|RGL1|protein_coding|CODING|ENST00000536277|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 13 40256364 Sibling 89A G A . . Gene=COG6;MT=SNP;MM=CM;CADD=33;VMM=130.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A251T|657|COG6|protein_coding|CODING|ENST00000455146|8|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A251T|615|COG6|protein_coding|CODING|ENST00000416691|8|A),UTR_3_PRIME(MODIFIER||22854||75|COG6|nonsense_mediated_decay|CODING|ENST00000356576|9|A),UTR_3_PRIME(MODIFIER||2205||133|COG6|nonsense_mediated_decay|CODING|ENST00000536488|6|A|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4650||62|COG6|nonsense_mediated_decay|CODING|ENST00000543804||A),DOWNSTREAM(MODIFIER||4083||196|COG6|protein_coding|CODING|ENST00000422759||A|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||COG6|processed_transcript|CODING|ENST00000537156|3|A),EXON(MODIFIER|||||COG6|processed_transcript|CODING|ENST00000465775|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 13 40261687 Sibling 89A G A . . Gene=COG6;MT=SNP;MM=CM;CADD=26.4;VMM=130.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R279H|657|COG6|protein_coding|CODING|ENST00000455146|9|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R279H|615|COG6|protein_coding|CODING|ENST00000416691|9|A),UTR_3_PRIME(MODIFIER||28177||75|COG6|nonsense_mediated_decay|CODING|ENST00000356576|10|A),DOWNSTREAM(MODIFIER||4||133|COG6|nonsense_mediated_decay|CODING|ENST00000536488||A|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||COG6|processed_transcript|CODING|ENST00000537156|4|A),EXON(MODIFIER|||||COG6|processed_transcript|CODING|ENST00000460701|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 17 73663524 Sibling 89A C T . . Gene=SAP30BP;MT=SNP;MM=CM;CADD=21.6;VMM=42.29;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G6|324|SAP30BP|protein_coding|CODING|ENST00000583536|1|T|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|308|SAP30BP|protein_coding|CODING|ENST00000584667|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|36|SAP30BP|nonsense_mediated_decay|CODING|ENST00000583170|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|292|SAP30BP|protein_coding|CODING|ENST00000355423|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|168|SAP30BP|nonsense_mediated_decay|CODING|ENST00000542343|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|37|SAP30BP|nonsense_mediated_decay|CODING|ENST00000579877|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|36|SAP30BP|nonsense_mediated_decay|CODING|ENST00000583737|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|235|SAP30BP|nonsense_mediated_decay|CODING|ENST00000293208|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G24|179|SAP30BP|nonsense_mediated_decay|CODING|ENST00000582022|1|T),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G23|247|SAP30BP|nonsense_mediated_decay|CODING|ENST00000580322|1|T|WARNING_TRANSCRIPT_NO_START_CODON),MOTIF[MA0095.1:Yy1](LOW||||||||||T),UPSTREAM(MODIFIER||255||991|RECQL5|protein_coding|CODING|ENST00000317905||T),UPSTREAM(MODIFIER||302||964|RECQL5|protein_coding|CODING|ENST00000423245||T),UPSTREAM(MODIFIER||356||479|RECQL5|protein_coding|CODING|ENST00000578201||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||255||410|RECQL5|protein_coding|CODING|ENST00000420326||T),UPSTREAM(MODIFIER||255||435|RECQL5|protein_coding|CODING|ENST00000340830||T),UPSTREAM(MODIFIER||271||435|RECQL5|protein_coding|CODING|ENST00000584999||T),UPSTREAM(MODIFIER||4484||197|RECQL5|protein_coding|CODING|ENST00000580078||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1072||103|SAP30BP|protein_coding|CODING|ENST00000578909||T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||SAP30BP|processed_transcript|CODING|ENST00000578354|1|T),EXON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000584861|1|T),EXON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000577292|1|T),EXON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000578288|1|T),EXON(MODIFIER|||||SAP30BP|processed_transcript|CODING|ENST00000579864|1|T),EXON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000580484|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 17 73664495 Sibling 89A T C . . Gene=SAP30BP;MT=SNP;MM=CM;CADD=16.81;VMM=42.29;EFF=UPSTREAM(MODIFIER||1226||991|RECQL5|protein_coding|CODING|ENST00000317905||C),UPSTREAM(MODIFIER||1273||964|RECQL5|protein_coding|CODING|ENST00000423245||C),UPSTREAM(MODIFIER||1327||479|RECQL5|protein_coding|CODING|ENST00000578201||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1226||410|RECQL5|protein_coding|CODING|ENST00000420326||C),UPSTREAM(MODIFIER||1226||435|RECQL5|protein_coding|CODING|ENST00000340830||C),UPSTREAM(MODIFIER||1242||435|RECQL5|protein_coding|CODING|ENST00000584999||C),UPSTREAM(MODIFIER||101||103|SAP30BP|protein_coding|CODING|ENST00000578909||C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||324|SAP30BP|protein_coding|CODING|ENST00000583536|1|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||308|SAP30BP|protein_coding|CODING|ENST00000584667|1|C),INTRON(MODIFIER||||36|SAP30BP|nonsense_mediated_decay|CODING|ENST00000583170|2|C),INTRON(MODIFIER|||||SAP30BP|processed_transcript|CODING|ENST00000578354|1|C),INTRON(MODIFIER||||292|SAP30BP|protein_coding|CODING|ENST00000355423|1|C),INTRON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000584861|1|C),INTRON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000577292|1|C),INTRON(MODIFIER||||168|SAP30BP|nonsense_mediated_decay|CODING|ENST00000542343|1|C),INTRON(MODIFIER||||37|SAP30BP|nonsense_mediated_decay|CODING|ENST00000579877|1|C),INTRON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000578288|1|C),INTRON(MODIFIER||||36|SAP30BP|nonsense_mediated_decay|CODING|ENST00000583737|2|C),INTRON(MODIFIER|||||SAP30BP|processed_transcript|CODING|ENST00000579864|1|C),INTRON(MODIFIER||||235|SAP30BP|nonsense_mediated_decay|CODING|ENST00000293208|1|C),INTRON(MODIFIER|||||SAP30BP|retained_intron|CODING|ENST00000580484|1|C),INTRON(MODIFIER||||179|SAP30BP|nonsense_mediated_decay|CODING|ENST00000582022|1|C),INTRON(MODIFIER||||247|SAP30BP|nonsense_mediated_decay|CODING|ENST00000580322|1|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 4 39865030 Sibling 89A T G . . Gene=PDS5A;MT=SNP;MM=CM;CADD=27.8;VMM=31.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K898Q|1337|PDS5A|protein_coding|CODING|ENST00000303538|24|G),UTR_3_PRIME(MODIFIER||5293||126|PDS5A|nonsense_mediated_decay|CODING|ENST00000507020|6|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 4 39918749 Sibling 89A T C . . Gene=PDS5A;MT=SNP;MM=CM;CADD=10.67;VMM=31.29;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V265|1337|PDS5A|protein_coding|CODING|ENST00000303538|8|C),SYNONYMOUS_CODING(LOW|SILENT|gtA/gtG|V265|600|PDS5A|protein_coding|CODING|ENST00000503396|8|C),UPSTREAM(MODIFIER||3403||43|PDS5A|nonsense_mediated_decay|CODING|ENST00000512643||C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3442|||PDS5A|retained_intron|CODING|ENST00000508625||C),INTRON(MODIFIER||||163|PDS5A|protein_coding|CODING|ENST00000513798|1|C|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 9 72349104 Sibling 89A T G . . Gene=PTAR1;MT=SNP;MM=CM;CADD=27.2;VMM=87.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttA/ttC|L130F|402|PTAR1|protein_coding|CODING|ENST00000340434|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|ttA/ttC|L51F|350|PTAR1|protein_coding|CODING|ENST00000377200|2|G),EXON(MODIFIER|||||PTAR1|retained_intron|CODING|ENST00000467511|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 9 72356712 Sibling 89A C T . . Gene=PTAR1;MT=SNP;MM=CM;CADD=23.9;VMM=87.97;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V107M|402|PTAR1|protein_coding|CODING|ENST00000340434|3|T),INTRON(MODIFIER||||350|PTAR1|protein_coding|CODING|ENST00000377200|1|T),EXON(MODIFIER|||||PTAR1|retained_intron|CODING|ENST00000474925|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. ./. 2 61475653 Sibling 90A C A . . Gene=USP34;MT=SNP;MM=DN;CADD=23.9;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R2129S|3546|USP34|protein_coding|CODING|ENST00000398571|49|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agG/agT|R407S|810|USP34|protein_coding|CODING|ENST00000453734|11|A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1262|||RP11-479F13.1|processed_pseudogene|NON_CODING|ENST00000605372||A),INTRON(MODIFIER|||||USP34|processed_transcript|CODING|ENST00000472706|2|A),EXON(MODIFIER|||||USP34|retained_intron|CODING|ENST00000463046|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 22 39218667 Sibling 90A C T . . Gene=NPTXR;MT=SNP;MM=DN;CADD=31;VMM=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G484R|500|NPTXR|protein_coding|CODING|ENST00000333039|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 1 114133195 Sibling 90A T C . . Gene=MAGI3;MT=SNP;MM=CM;CADD=23.2;VMM=34.68;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y285H|1481|MAGI3|protein_coding|CODING|ENST00000307546|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y285H|1150|MAGI3|protein_coding|CODING|ENST00000369617|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y285H|1125|MAGI3|protein_coding|CODING|ENST00000369615|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tat/Cat|Y285H|1125|MAGI3|protein_coding|CODING|ENST00000369611|5|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 1 114226875 Sibling 90A C T . . Gene=MAGI3;MT=SNP;MM=CM;CADD=13.42;VMM=34.68;EFF=UTR_3_PRIME(MODIFIER||239||1481|MAGI3|protein_coding|CODING|ENST00000307546|21|T),UTR_3_PRIME(MODIFIER||1992||1125|MAGI3|protein_coding|CODING|ENST00000369615|22|T),DOWNSTREAM(MODIFIER||1819||1150|MAGI3|protein_coding|CODING|ENST00000369617||T),DOWNSTREAM(MODIFIER||1819||1125|MAGI3|protein_coding|CODING|ENST00000369611||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 10 71647367 Sibling 90A G T . . Gene=COL13A1;MT=SNP;MM=CM;CADD=12.86;VMM=37.55;EFF=INTRON(MODIFIER||||717|COL13A1|protein_coding|CODING|ENST00000356340|6|T),INTRON(MODIFIER||||703|COL13A1|protein_coding|CODING|ENST00000398972|7|T),INTRON(MODIFIER||||691|COL13A1|protein_coding|CODING|ENST00000398973|7|T),INTRON(MODIFIER||||688|COL13A1|protein_coding|CODING|ENST00000398964|4|T),INTRON(MODIFIER||||695|COL13A1|protein_coding|CODING|ENST00000398966|6|T),INTRON(MODIFIER||||698|COL13A1|protein_coding|CODING|ENST00000398968|6|T),INTRON(MODIFIER||||645|COL13A1|protein_coding|CODING|ENST00000398969|4|T),INTRON(MODIFIER||||702|COL13A1|protein_coding|CODING|ENST00000398971|6|T),INTRON(MODIFIER||||705|COL13A1|protein_coding|CODING|ENST00000398974|5|T),INTRON(MODIFIER||||582|COL13A1|nonsense_mediated_decay|CODING|ENST00000479733|8|T),INTRON(MODIFIER||||695|COL13A1|protein_coding|CODING|ENST00000354547|7|T),INTRON(MODIFIER||||683|COL13A1|protein_coding|CODING|ENST00000357811|7|T),INTRON(MODIFIER||||717|COL13A1|protein_coding|CODING|ENST00000398978|7|T),INTRON(MODIFIER||||645|COL13A1|protein_coding|CODING|ENST00000520267|4|T),INTRON(MODIFIER||||668|COL13A1|protein_coding|CODING|ENST00000517713|7|T),INTRON(MODIFIER||||610|COL13A1|protein_coding|CODING|ENST00000520133|5|T),INTRON(MODIFIER||||686|COL13A1|protein_coding|CODING|ENST00000522165|7|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 10 71662507 Sibling 90A G A . . Gene=COL13A1;MT=SNP;MM=CM;CADD=26.3;VMM=37.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E262K|717|COL13A1|protein_coding|CODING|ENST00000356340|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E262K|703|COL13A1|protein_coding|CODING|ENST00000398972|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E262K|691|COL13A1|protein_coding|CODING|ENST00000398973|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E233K|688|COL13A1|protein_coding|CODING|ENST00000398964|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E240K|695|COL13A1|protein_coding|CODING|ENST00000398966|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E243K|698|COL13A1|protein_coding|CODING|ENST00000398968|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E205K|645|COL13A1|protein_coding|CODING|ENST00000398969|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E262K|702|COL13A1|protein_coding|CODING|ENST00000398971|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E250K|705|COL13A1|protein_coding|CODING|ENST00000398974|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E271K|582|COL13A1|nonsense_mediated_decay|CODING|ENST00000479733|16|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E240K|695|COL13A1|protein_coding|CODING|ENST00000354547|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E240K|683|COL13A1|protein_coding|CODING|ENST00000357811|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E262K|717|COL13A1|protein_coding|CODING|ENST00000398978|15|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E205K|645|COL13A1|protein_coding|CODING|ENST00000520267|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E240K|668|COL13A1|protein_coding|CODING|ENST00000517713|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E211K|610|COL13A1|protein_coding|CODING|ENST00000520133|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E243K|686|COL13A1|protein_coding|CODING|ENST00000522165|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 11 78369332 Sibling 90A G T . . Gene=TENM4;MT=SNP;MM=CM;CADD=29.4;VMM=30.87;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCc/gAc|A2694D|2769|TENM4|protein_coding|CODING|ENST00000278550|34|T),INTRON(MODIFIER||||951|TENM4|protein_coding|CODING|ENST00000530738|5|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 11 78523276 Sibling 90A G A . . Gene=TENM4;MT=SNP;MM=CM;CADD=10.12;VMM=30.87;EFF=SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|C623|2769|TENM4|protein_coding|CODING|ENST00000278550|14|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 17 37676296 Sibling 90A C T . . Gene=CDK12;MT=SNP;MM=CM;CADD=17.41;VMM=46.29;EFF=SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1017|1490|CDK12|protein_coding|CODING|ENST00000447079|11|T),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1016|1200|CDK12|protein_coding|CODING|ENST00000584632|11|T|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|S1017|1481|CDK12|protein_coding|CODING|ENST00000430627|11|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 17 37686920 Sibling 90A C T . . Gene=CDK12;MT=SNP;MM=CM;CADD=22.5;VMM=46.29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1275L|1490|CDK12|protein_coding|CODING|ENST00000447079|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P1266L|1481|CDK12|protein_coding|CODING|ENST00000430627|14|T),DOWNSTREAM(MODIFIER||4504||1200|CDK12|protein_coding|CODING|ENST00000584632||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||158|CDK12|nonsense_mediated_decay|CODING|ENST00000559663|1|T|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||CDK12|retained_intron|CODING|ENST00000584336|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 6 136582401 Sibling 90A A T . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=22.2;VMM=101.88;EFF=SPLICE_SITE_DONOR+INTRON(HIGH||||920|BCLAF1|protein_coding|CODING|ENST00000531224|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000353331|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH||||871|BCLAF1|protein_coding|CODING|ENST00000527536|11|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|T),SPLICE_SITE_DONOR+INTRON(HIGH||||747|BCLAF1|protein_coding|CODING|ENST00000530767|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||918|BCLAF1|protein_coding|CODING|ENST00000527759|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|T),SPLICE_SITE_DONOR+INTRON(HIGH||||138|BCLAF1|protein_coding|CODING|ENST00000031135|4|T),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|T),SPLICE_SITE_DONOR+INTRON(HIGH||||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|T),SPLICE_SITE_DONOR+INTRON(HIGH||||186|BCLAF1|protein_coding|CODING|ENST00000534762|4|T|WARNING_TRANSCRIPT_NO_START_CODON),SPLICE_SITE_DONOR+INTRON(HIGH|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|T),SPLICE_SITE_DONOR+INTRON(HIGH||||869|BCLAF1|protein_coding|CODING|ENST00000392348|9|T),DOWNSTREAM(MODIFIER||38|||BCLAF1|retained_intron|CODING|ENST00000526228||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 6 136582537 Sibling 90A G A . . Gene=BCLAF1;MT=SNP;MM=CM;CADD=33;VMM=101.88;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R875C|920|BCLAF1|protein_coding|CODING|ENST00000531224|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R824C|869|BCLAF1|protein_coding|CODING|ENST00000353331|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R80C|125|BCLAF1|nonsense_mediated_decay|CODING|ENST00000533422|2|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R826C|871|BCLAF1|protein_coding|CODING|ENST00000527536|11|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R702C|747|BCLAF1|protein_coding|CODING|ENST00000530767|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R873C|918|BCLAF1|protein_coding|CODING|ENST00000527759|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R93C|138|BCLAF1|protein_coding|CODING|ENST00000031135|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R141C|186|BCLAF1|protein_coding|CODING|ENST00000534762|4|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R824C|869|BCLAF1|protein_coding|CODING|ENST00000392348|9|A),UTR_3_PRIME(MODIFIER||7865||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000527613|13|A),UTR_3_PRIME(MODIFIER||12714||467|BCLAF1|nonsense_mediated_decay|CODING|ENST00000534269|14|A),UTR_3_PRIME(MODIFIER||7865||752|BCLAF1|nonsense_mediated_decay|CODING|ENST00000532384|12|A),UTR_3_PRIME(MODIFIER||7865||750|BCLAF1|nonsense_mediated_decay|CODING|ENST00000530429|12|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000529522|2|A),EXON(MODIFIER|||||BCLAF1|processed_transcript|CODING|ENST00000529917|5|A),EXON(MODIFIER|||||BCLAF1|retained_intron|CODING|ENST00000526228|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. ./. 8 113326731 Sibling 91A CT C . . Gene=CSMD3;MT=INDEL;MM=DN;CADD=35;VMM=0;EFF=FRAME_SHIFT(HIGH||aag/|K2492|3707|CSMD3|protein_coding|CODING|ENST00000297405|48|C),FRAME_SHIFT(HIGH||aag/|K2452|3667|CSMD3|protein_coding|CODING|ENST00000343508|49|C),FRAME_SHIFT(HIGH||aag/|K1762|2977|CSMD3|protein_coding|CODING|ENST00000339701|33|C|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||aag/|K2388|3538|CSMD3|protein_coding|CODING|ENST00000455883|47|C),FRAME_SHIFT(HIGH||aag/|K2422|3637|CSMD3|protein_coding|CODING|ENST00000352409|46|C),EXON(MODIFIER|||||CSMD3|retained_intron|CODING|ENST00000492692|6|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ibling 91A G A . . Gene=KIAA2026;MT=SNP;MM=DN;CADD=16.41;VMM=0;EFF=MOTIF[MA0147.1:Cmyc](MODIFIER||||||||||A),UPSTREAM(MODIFIER||684|||MIR4665|miRNA|NON_CODING|ENST00000581132||A),DOWNSTREAM(MODIFIER||3901||1105|RANBP6|protein_coding|CODING|ENST00000259569||A),INTRON(MODIFIER||||2103|KIAA2026|protein_coding|CODING|ENST00000399933|1|A),INTRON(MODIFIER||||2073|KIAA2026|protein_coding|CODING|ENST00000381461|1|A),INTRON(MODIFIER||||616|KIAA2026|protein_coding|CODING|ENST00000513355|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 1 18554424 Sibling 91A C A . . Gene=IGSF21;MT=SNP;MM=CM;CADD=26.3;VMM=32.38;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Act|P35T|467|IGSF21|protein_coding|CODING|ENST00000251296|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 1 18704919 Sibling 91A C T . . Gene=IGSF21;MT=SNP;MM=CM;CADD=11.45;VMM=32.38;EFF=UTR_3_PRIME(MODIFIER||99||467|IGSF21|protein_coding|CODING|ENST00000251296|10|T),DOWNSTREAM(MODIFIER||2058||308|IGSF21|protein_coding|CODING|ENST00000412684||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||1505|||IGSF21|processed_transcript|CODING|ENST00000473951||T),EXON(MODIFIER|||||IGSF21|retained_intron|CODING|ENST00000497331|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 11 124740144 Sibling 91A G A . . Gene=ROBO3;MT=SNP;MM=CM;CADD=29.1;VMM=118.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D284N|1386|ROBO3|protein_coding|CODING|ENST00000397801|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D262N|1364|ROBO3|protein_coding|CODING|ENST00000538940|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 11 124747839 Sibling 91A G T . . Gene=ROBO3;MT=SNP;MM=CM;CADD=27.9;VMM=118.63;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G998V|1386|ROBO3|protein_coding|CODING|ENST00000397801|21|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gTa|G976V|1364|ROBO3|protein_coding|CODING|ENST00000538940|20|T),UTR_5_PRIME(MODIFIER||1548||149|ROBO3|protein_coding|CODING|ENST00000543966|2|T),UPSTREAM(MODIFIER||354|||ROBO3|retained_intron|CODING|ENST00000525304||T),UPSTREAM(MODIFIER||422|||ROBO3|retained_intron|CODING|ENST00000524971||T),DOWNSTREAM(MODIFIER||272|||ROBO3|processed_transcript|CODING|ENST00000531545||T),DOWNSTREAM(MODIFIER||426|||ROBO3|retained_intron|CODING|ENST00000531888||T),DOWNSTREAM(MODIFIER||267|||ROBO3|retained_intron|CODING|ENST00000528068||T),DOWNSTREAM(MODIFIER||202|||ROBO3|processed_transcript|CODING|ENST00000532472||T),DOWNSTREAM(MODIFIER||147|||ROBO3|retained_intron|CODING|ENST00000531119||T),DOWNSTREAM(MODIFIER||33|||ROBO3|retained_intron|CODING|ENST00000530647||T),INTRON(MODIFIER|||||ROBO3|processed_transcript|CODING|ENST00000528144|2|T),INTRON(MODIFIER|||||ROBO3|processed_transcript|CODING|ENST00000526551|4|T),INTRON(MODIFIER|||||ROBO3|processed_transcript|CODING|ENST00000528820|3|T),INTRON(MODIFIER|||||ROBO3|processed_transcript|CODING|ENST00000531075|3|T),EXON(MODIFIER|||||ROBO3|retained_intron|CODING|ENST00000527196|5|T),EXON(MODIFIER|||||ROBO3|retained_intron|CODING|ENST00000527245|1|T),EXON(MODIFIER|||||ROBO3|retained_intron|CODING|ENST00000529658|2|T),EXON(MODIFIER|||||ROBO3|retained_intron|CODING|ENST00000525448|5|T),EXON(MODIFIER|||||ROBO3|processed_transcript|CODING|ENST00000525482|4|T),EXON(MODIFIER|||||ROBO3|retained_intron|CODING|ENST00000534598|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 19 40362876 Sibling 91A G A . . Gene=FCGBP;MT=SNP;MM=CM;CADD=19.17;VMM=89.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A5065V|5405|FCGBP|protein_coding|CODING|ENST00000221347|32|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 19 40396368 Sibling 91A G C . . Gene=FCGBP;MT=SNP;MM=CM;CADD=35;VMM=89.09;EFF=STOP_GAINED(HIGH|NONSENSE|taC/taG|Y2343*|5405|FCGBP|protein_coding|CODING|ENST00000221347|15|C),INTRON(MODIFIER||||157|FCGBP|protein_coding|CODING|ENST00000601713|2|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 3 51746724 Sibling 91A G A . . Gene=GRM2;MT=SNP;MM=CM;CADD=29.5;VMM=69.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R229H|872|GRM2|protein_coding|CODING|ENST00000395052|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R229H|435|GRM2|nonsense_mediated_decay|CODING|ENST00000296479|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R229H|594|GRM2|protein_coding|CODING|ENST00000442933|2|A),DOWNSTREAM(MODIFIER||3515||69|GRM2|protein_coding|CODING|ENST00000419928||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||127|||GRM2|processed_transcript|CODING|ENST00000477330||A),INTRON(MODIFIER|||||GRM2|processed_transcript|CODING|ENST00000475478|1|A),EXON(MODIFIER|||||GRM2|retained_intron|CODING|ENST00000464585|2|A),EXON(MODIFIER|||||GRM2|processed_transcript|CODING|ENST00000496661|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 3 51747111 Sibling 91A G A . . Gene=GRM2;MT=SNP;MM=CM;CADD=18.62;VMM=69.58;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R358Q|872|GRM2|protein_coding|CODING|ENST00000395052|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R358Q|435|GRM2|nonsense_mediated_decay|CODING|ENST00000296479|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R358Q|594|GRM2|protein_coding|CODING|ENST00000442933|2|A),DOWNSTREAM(MODIFIER||3902||69|GRM2|protein_coding|CODING|ENST00000419928||A|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||514|||GRM2|processed_transcript|CODING|ENST00000477330||A),INTRON(MODIFIER|||||GRM2|processed_transcript|CODING|ENST00000475478|1|A),EXON(MODIFIER|||||GRM2|retained_intron|CODING|ENST00000464585|2|A),EXON(MODIFIER|||||GRM2|processed_transcript|CODING|ENST00000496661|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. ./. 1 109803697 Sibling 92A G A . . Gene=CELSR2;MT=SNP;MM=CM;CADD=34;VMM=61.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R1331H|2923|CELSR2|protein_coding|CODING|ENST00000271332|3|A),UPSTREAM(MODIFIER||4194|||CELSR2|processed_transcript|CODING|ENST00000459940||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 1 109813577 Sibling 92A C T . . Gene=CELSR2;MT=SNP;MM=CM;CADD=15.05;VMM=61.28;EFF=SYNONYMOUS_CODING(LOW|SILENT|ggC/ggT|G2504|2923|CELSR2|protein_coding|CODING|ENST00000271332|25|T),DOWNSTREAM(MODIFIER||4516|||CELSR2|processed_transcript|CODING|ENST00000459940||T),EXON(MODIFIER|||||CELSR2|processed_transcript|CODING|ENST00000489018|2|T),EXON(MODIFIER|||||CELSR2|processed_transcript|CODING|ENST00000498157|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 1 201180820 Sibling 92A G A . . Gene=IGFN1;MT=SNP;MM=CM;CADD=16.27;VMM=47.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D2267N|3708|IGFN1|protein_coding|CODING|ENST00000335211|12|A),UTR_5_PRIME(MODIFIER||1722||608|IGFN1|protein_coding|CODING|ENST00000295591|12|A),UPSTREAM(MODIFIER||950||1125|IGFN1|protein_coding|CODING|ENST00000412892||A|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1404|||IGFN1|retained_intron|CODING|ENST00000473483||A),INTRON(MODIFIER||||570|IGFN1|protein_coding|CODING|ENST00000451870|12|A),INTRON(MODIFIER||||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|12|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 1 201196156 Sibling 92A G A . . Gene=IGFN1;MT=SNP;MM=CM;CADD=24.8;VMM=47.55;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V3645I|3708|IGFN1|protein_coding|CODING|ENST00000335211|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|V1062I|1125|IGFN1|protein_coding|CODING|ENST00000412892|12|A|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||11045||570|IGFN1|nonsense_mediated_decay|CODING|ENST00000437879|25|A),UTR_3_PRIME(MODIFIER||1148||608|IGFN1|protein_coding|CODING|ENST00000295591|22|A),UPSTREAM(MODIFIER||3905|||RP11-567E21.3|antisense|NON_CODING|ENST00000453155||A),EXON(MODIFIER|||||IGFN1|retained_intron|CODING|ENST00000473483|11|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 11 108121543 Sibling 92A C T . . Gene=ATM;MT=SNP;MM=CM;CADD=33;VMM=42.44;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|3056|ATM|protein_coding|CODING|ENST00000278616|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|1368|ATM|protein_coding|CODING|ENST00000527805|10|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R451C|3056|ATM|protein_coding|CODING|ENST00000452508|11|T),UPSTREAM(MODIFIER||2005|||ATM|processed_transcript|CODING|ENST00000525012||T),UPSTREAM(MODIFIER||2005|||ATM|processed_transcript|CODING|ENST00000533526||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 11 108142256 Sibling 92A A G . . Gene=ATM;MT=SNP;MM=CM;CADD=11.79;VMM=42.44;EFF=DOWNSTREAM(MODIFIER||177|||ATM|processed_transcript|CODING|ENST00000419286||G),INTRON(MODIFIER||||3056|ATM|protein_coding|CODING|ENST00000278616|20|G),INTRON(MODIFIER||||1368|ATM|protein_coding|CODING|ENST00000527805|20|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||3056|ATM|protein_coding|CODING|ENST00000452508|21|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 19 49224120 Sibling 92A C T . . Gene=RASIP1;MT=SNP;MM=CM;CADD=29.4;VMM=44.43;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gat/Aat|D943N|963|RASIP1|protein_coding|CODING|ENST00000222145|12|T),UPSTREAM(MODIFIER||1142||415|MAMSTR|protein_coding|CODING|ENST00000318083||T),UPSTREAM(MODIFIER||3906||312|MAMSTR|protein_coding|CODING|ENST00000356751||T),UPSTREAM(MODIFIER||3842||247|MAMSTR|protein_coding|CODING|ENST00000594582||T),UPSTREAM(MODIFIER||1142||247|MAMSTR|protein_coding|CODING|ENST00000377367||T),UPSTREAM(MODIFIER||1142||312|MAMSTR|protein_coding|CODING|ENST00000419611||T),UPSTREAM(MODIFIER||1150||218|MAMSTR|protein_coding|CODING|ENST00000599703||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4020||10|MAMSTR|protein_coding|CODING|ENST00000595591||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3967||180|RASIP1|protein_coding|CODING|ENST00000599291||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||RASIP1|retained_intron|CODING|ENST00000601530|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 19 49229870 Sibling 92A G A . . Gene=RASIP1;MT=SNP;MM=CM;CADD=13.36;VMM=44.43;EFF=UPSTREAM(MODIFIER||1032|||RASIP1|retained_intron|CODING|ENST00000601530||A),DOWNSTREAM(MODIFIER||2940|||RASIP1|processed_transcript|CODING|ENST00000594232||A),INTRON(MODIFIER||||963|RASIP1|protein_coding|CODING|ENST00000222145|8|A),INTRON(MODIFIER||||180|RASIP1|protein_coding|CODING|ENST00000599291|2|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 4 114163279 Sibling 92A C T . . Gene=ANK2;MT=SNP;MM=CM;CADD=32;VMM=118.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P269S|3957|ANK2|protein_coding|CODING|ENST00000357077|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P248S|1113|ANK2|protein_coding|CODING|ENST00000503271|10|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P248S|1610|ANK2|protein_coding|CODING|ENST00000503423|10|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P248S|1863|ANK2|protein_coding|CODING|ENST00000506722|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P284S|1729|ANK2|protein_coding|CODING|ENST00000504454|10|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P269S|1872|ANK2|protein_coding|CODING|ENST00000394537|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Tct|P269S|3924|ANK2|protein_coding|CODING|ENST00000264366|9|T),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||3957|ANK2|protein_coding|CODING||9|T),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||1863|ANK2|protein_coding|CODING||10|T),NEXT_PROT[helix:combinatorial_evidence_used_in_manual_assertion](LOW||||1872|ANK2|protein_coding|CODING||9|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 4 114294537 Sibling 92A G A . . Gene=ANK2;MT=SNP;MM=CM;CADD=25.4;VMM=118.28;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E3931K|3957|ANK2|protein_coding|CODING|ENST00000357077|45|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1837K|1863|ANK2|protein_coding|CODING|ENST00000506722|46|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1846K|1872|ANK2|protein_coding|CODING|ENST00000394537|44|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E3898K|3924|ANK2|protein_coding|CODING|ENST00000264366|44|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E1022K|1048|ANK2|protein_coding|CODING|ENST00000509550|23|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E878K|965|ANK2|protein_coding|CODING|ENST00000514960|18|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E529K|555|ANK2|protein_coding|CODING|ENST00000510275|13|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E941K|1028|ANK2|protein_coding|CODING|ENST00000505342|8|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E22K|196|ANK2|protein_coding|CODING|ENST00000506344|1|A|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Aag|E8K|79|ANK2|protein_coding|CODING|ENST00000514167|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. ./. 14 92911641 Sibling 93A CTG C . . Gene=SLC24A4;MT=INDEL;MM=HR;CADD=15.27;VMM=0;EFF=UPSTREAM(MODIFIER||4920|||SLC24A4|processed_transcript|CODING|ENST00000556739||C),DOWNSTREAM(MODIFIER||2545||63|SLC24A4|protein_coding|CODING|ENST00000554461||C|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||622|SLC24A4|protein_coding|CODING|ENST00000532405|7|C),INTRON(MODIFIER||||558|SLC24A4|protein_coding|CODING|ENST00000393265|7|C),INTRON(MODIFIER||||603|SLC24A4|protein_coding|CODING|ENST00000531433|8|C),INTRON(MODIFIER||||605|SLC24A4|protein_coding|CODING|ENST00000298877|7|C),INTRON(MODIFIER||||586|SLC24A4|protein_coding|CODING|ENST00000351924|7|C),INTRON(MODIFIER||||463|SLC24A4|protein_coding|CODING|ENST00000525557|4|C|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER|||||SLC24A4|retained_intron|CODING|ENST00000554925|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/1 ./. ./. ./. ./. 1 78392121 Sibling 93A T C . . Gene=NEXN;MT=SNP;MM=CM;CADD=11.5;VMM=39.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I171T|675|NEXN|protein_coding|CODING|ENST00000334785|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I107T|320|NEXN|protein_coding|CODING|ENST00000401035|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I157T|662|NEXN|protein_coding|CODING|ENST00000457030|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I107T|611|NEXN|protein_coding|CODING|ENST00000330010|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I157T|434|NEXN|protein_coding|CODING|ENST00000440324|6|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTa/aCa|I70T|575|NEXN|protein_coding|CODING|ENST00000342754|3|C|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||133|||NEXN|retained_intron|CODING|ENST00000464998||C),DOWNSTREAM(MODIFIER||2039||159|NEXN|protein_coding|CODING|ENST00000294624||C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 1 78392548 Sibling 93A C T . . Gene=NEXN;MT=SNP;MM=CM;CADD=32;VMM=39.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R279C|675|NEXN|protein_coding|CODING|ENST00000334785|8|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R215C|320|NEXN|protein_coding|CODING|ENST00000401035|7|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R265C|662|NEXN|protein_coding|CODING|ENST00000457030|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R215C|611|NEXN|protein_coding|CODING|ENST00000330010|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R265C|434|NEXN|protein_coding|CODING|ENST00000440324|7|T|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgt/Tgt|R178C|575|NEXN|protein_coding|CODING|ENST00000342754|4|T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||4799|||NEXN|processed_transcript|CODING|ENST00000480732||T),DOWNSTREAM(MODIFIER||2466||159|NEXN|protein_coding|CODING|ENST00000294624||T),EXON(MODIFIER|||||NEXN|retained_intron|CODING|ENST00000464998|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 1 145558877 Sibling 93A G A . . Gene=ANKRD35;MT=SNP;MM=CM;CADD=15.63;VMM=71.13;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|A166T|1001|ANKRD35|protein_coding|CODING|ENST00000355594|7|A),UTR_3_PRIME(MODIFIER||24||137|ANKRD35|protein_coding|CODING|ENST00000544626|6|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 1 145561822 Sibling 93A C T . . Gene=ANKRD35;MT=SNP;MM=CM;CADD=37;VMM=71.13;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R504*|1001|ANKRD35|protein_coding|CODING|ENST00000355594|10|T),DOWNSTREAM(MODIFIER||656||137|ANKRD35|protein_coding|CODING|ENST00000544626||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 10 27793348 Sibling 93A G C . . Gene=RAB18;MT=SNP;MM=CM;CADD=24.3;VMM=57.96;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S17T|206|RAB18|protein_coding|CODING|ENST00000356940|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S17T|142|RAB18|protein_coding|CODING|ENST00000535776|1|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aCt|S17T|161|RAB18|protein_coding|CODING|ENST00000375802|1|C),SPLICE_SITE_REGION+INTRON(LOW|||||RAB18|retained_intron|CODING|ENST00000490236|1|C),UPSTREAM(MODIFIER||200||289|RAB18|protein_coding|CODING|ENST00000423465||C|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||RAB18|processed_transcript|CODING|ENST00000465772|1|C),EXON(MODIFIER|||||RAB18|processed_transcript|CODING|ENST00000484281|1|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 10 27821502 Sibling 93A A G . . Gene=RAB18;MT=SNP;MM=CM;CADD=19.35;VMM=57.96;EFF=PROTEIN_STRUCTURAL_INTERACTION_LOCUS(HIGH||||206|RAB18|protein_coding|CODING||4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I197V|289|RAB18|protein_coding|CODING|ENST00000423465|6|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ata/Gta|I85V|206|RAB18|protein_coding|CODING|ENST00000356940|4|G),INTRON(MODIFIER||||142|RAB18|protein_coding|CODING|ENST00000535776|3|G),INTRON(MODIFIER||||161|RAB18|protein_coding|CODING|ENST00000375802|2|G),EXON(MODIFIER|||||RAB18|processed_transcript|CODING|ENST00000465772|4|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 16 30066509 Sibling 93A C T . . Gene=ALDOA;MT=SNP;MM=CM;CADD=13.28;VMM=34.7;EFF=UTR_5_PRIME(MODIFIER||11710||418|ALDOA|protein_coding|CODING|ENST00000395248|4|T),UTR_5_PRIME(MODIFIER||12067||364|ALDOA|protein_coding|CODING|ENST00000338110|4|T),UTR_5_PRIME(MODIFIER||12067||364|ALDOA|protein_coding|CODING|ENST00000566897|2|T),UTR_5_PRIME(MODIFIER||12067||11|ALDOA|protein_coding|CODING|ENST00000568435|3|T|WARNING_TRANSCRIPT_NO_STOP_CODON),UPSTREAM(MODIFIER||2210||145|FAM57B|protein_coding|CODING|ENST00000561666||T|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2265||16|FAM57B|protein_coding|CODING|ENST00000571269||T|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER|||||ALDOA|processed_transcript|CODING|ENST00000575627|1|T),INTRON(MODIFIER|||||ALDOA|processed_transcript|CODING|ENST00000562240|3|T),EXON(MODIFIER|||||ALDOA|retained_intron|CODING|ENST00000566280|2|T),EXON(MODIFIER|||||ALDOA|retained_intron|CODING|ENST00000567249|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 16 30081472 Sibling 93A C T . . Gene=ALDOA;MT=SNP;MM=CM;CADD=23.5;VMM=34.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P399L|418|ALDOA|protein_coding|CODING|ENST00000395248|16|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000338110|14|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000566897|12|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000569545|11|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000563060|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000412304|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P345L|364|ALDOA|protein_coding|CODING|ENST00000564546|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P399L|418|ALDOA|protein_coding|CODING|ENST00000564595|10|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P349L|368|ALDOA|protein_coding|CODING|ENST00000395240|9|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P110L|129|ALDOA|protein_coding|CODING|ENST00000565355|3|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||35||361|ALDOA|protein_coding|CODING|ENST00000569798|8|T),DOWNSTREAM(MODIFIER||2861||11|ALDOA|protein_coding|CODING|ENST00000568435||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1194||161|ALDOA|protein_coding|CODING|ENST00000562168||T|WARNING_TRANSCRIPT_NO_STOP_CODON),DOWNSTREAM(MODIFIER||1246||154|ALDOA|protein_coding|CODING|ENST00000563987||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2530|||ALDOA|retained_intron|CODING|ENST00000567555||T),DOWNSTREAM(MODIFIER||1899|||ALDOA|processed_transcript|CODING|ENST00000566012||T),DOWNSTREAM(MODIFIER||1259||139|ALDOA|protein_coding|CODING|ENST00000566846||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||604||277|ALDOA|protein_coding|CODING|ENST00000562679||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||259||203|ALDOA|protein_coding|CODING|ENST00000564688||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||623|||ALDOA|retained_intron|CODING|ENST00000566146||T),EXON(MODIFIER|||||ALDOA|retained_intron|CODING|ENST00000564521|7|T),EXON(MODIFIER|||||ALDOA|retained_intron|CODING|ENST00000566130|4|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 17 15983784 Sibling 93A C T . . Gene=NCOR1;MT=SNP;MM=CM;CADD=27.6;VMM=58.5;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1113Q|2440|NCOR1|protein_coding|CODING|ENST00000268712|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1129Q|2337|NCOR1|protein_coding|CODING|ENST00000395851|24|T),UPSTREAM(MODIFIER||3572|||AC002553.4|processed_pseudogene|NON_CODING|ENST00000453217||T),UPSTREAM(MODIFIER||463||1070|NCOR1|protein_coding|CODING|ENST00000395849||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||463||1024|NCOR1|protein_coding|CODING|ENST00000395857||T),EXON(MODIFIER|||||NCOR1|retained_intron|CODING|ENST00000458113|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 17 16098024 Sibling 93A C G . . Gene=NCOR1;MT=SNP;MM=CM;CADD=17.35;VMM=58.5;EFF=UPSTREAM(MODIFIER||97||2337|NCOR1|protein_coding|CODING|ENST00000395851||G),UPSTREAM(MODIFIER||71||914|NCOR1|protein_coding|CODING|ENST00000395848||G),UPSTREAM(MODIFIER||99|||NCOR1|retained_intron|CODING|ENST00000579974||G),DOWNSTREAM(MODIFIER||2558|||RN7SL442P|misc_RNA|NON_CODING|ENST00000473804||G),DOWNSTREAM(MODIFIER||3461|||NCOR1|processed_transcript|CODING|ENST00000466825||G),INTRON(MODIFIER||||2440|NCOR1|protein_coding|CODING|ENST00000268712|1|G),INTRON(MODIFIER||||544|NCOR1|protein_coding|CODING|ENST00000411510|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||545|NCOR1|protein_coding|CODING|ENST00000582357|1|G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||536|NCOR1|protein_coding|CODING|ENST00000436828|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||88|NCOR1|nonsense_mediated_decay|CODING|ENST00000460276|1|G),INTRON(MODIFIER|||||NCOR1|retained_intron|CODING|ENST00000585296|1|G),INTRON(MODIFIER||||124|NCOR1|protein_coding|CODING|ENST00000430577|2|G|WARNING_TRANSCRIPT_NO_STOP_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 3 48457856 Sibling 93A C A . . Gene=PLXNB1;MT=SNP;MM=CM;CADD=33;VMM=43.76;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V1127L|2135|PLXNB1|protein_coding|CODING|ENST00000296440|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V944L|1952|PLXNB1|protein_coding|CODING|ENST00000358459|18|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V1127L|2135|PLXNB1|protein_coding|CODING|ENST00000358536|17|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ttg|V944L|1952|PLXNB1|protein_coding|CODING|ENST00000456774|16|A),UTR_3_PRIME(MODIFIER||2856||729|PLXNB1|nonsense_mediated_decay|CODING|ENST00000449094|15|A),UPSTREAM(MODIFIER||2441|||PLXNB1|retained_intron|CODING|ENST00000485535||A),UPSTREAM(MODIFIER||4480|||PLXNB1|retained_intron|CODING|ENST00000470525||A),UPSTREAM(MODIFIER||3507|||PLXNB1|retained_intron|CODING|ENST00000461261||A),UPSTREAM(MODIFIER||1467|||PLXNB1|retained_intron|CODING|ENST00000473996||A),UPSTREAM(MODIFIER||781|||PLXNB1|processed_transcript|CODING|ENST00000465117||A),UPSTREAM(MODIFIER||912|||PLXNB1|retained_intron|CODING|ENST00000467913||A),DOWNSTREAM(MODIFIER||1742|||PLXNB1|processed_transcript|CODING|ENST00000484485||A),DOWNSTREAM(MODIFIER||1840|||PLXNB1|retained_intron|CODING|ENST00000462738||A),DOWNSTREAM(MODIFIER||3632|||PLXNB1|processed_transcript|CODING|ENST00000466353||A),INTRON(MODIFIER||||746|PLXNB1|protein_coding|CODING|ENST00000448774|2|A),EXON(MODIFIER|||||PLXNB1|retained_intron|CODING|ENST00000464294|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 3 48461118 Sibling 93A G A . . Gene=PLXNB1;MT=SNP;MM=CM;CADD=12.06;VMM=43.76;EFF=SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D859|2135|PLXNB1|protein_coding|CODING|ENST00000296440|11|A),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|D859|2135|PLXNB1|protein_coding|CODING|ENST00000358536|11|A),UPSTREAM(MODIFIER||4729|||PLXNB1|retained_intron|CODING|ENST00000473996||A),UPSTREAM(MODIFIER||4043|||PLXNB1|processed_transcript|CODING|ENST00000465117||A),UPSTREAM(MODIFIER||4174|||PLXNB1|retained_intron|CODING|ENST00000467913||A),UPSTREAM(MODIFIER||2876|||PLXNB1|retained_intron|CODING|ENST00000464294||A),UPSTREAM(MODIFIER||97|||PLXNB1|retained_intron|CODING|ENST00000462738||A),DOWNSTREAM(MODIFIER||370|||PLXNB1|processed_transcript|CODING|ENST00000466353||A),DOWNSTREAM(MODIFIER||2704|||PLXNB1|processed_transcript|CODING|ENST00000473683||A),INTRON(MODIFIER||||1952|PLXNB1|protein_coding|CODING|ENST00000358459|11|A),INTRON(MODIFIER||||746|PLXNB1|protein_coding|CODING|ENST00000448774|2|A),INTRON(MODIFIER||||1952|PLXNB1|protein_coding|CODING|ENST00000456774|9|A),INTRON(MODIFIER||||729|PLXNB1|nonsense_mediated_decay|CODING|ENST00000449094|8|A),EXON(MODIFIER|||||PLXNB1|processed_transcript|CODING|ENST00000484485|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. ./. 14 90872274 Sibling 94A GGTT G . . Gene=CALM1;MT=INDEL;MM=CM;CADD=15.63;VMM=34.7;EFF=UTR_3_PRIME(MODIFIER||1214||149|CALM1|protein_coding|CODING|ENST00000356978|6|G),UPSTREAM(MODIFIER||696|||RP11-471B22.2|antisense|NON_CODING|ENST00000555853||G),DOWNSTREAM(MODIFIER||859||150|CALM1|protein_coding|CODING|ENST00000447653||G),DOWNSTREAM(MODIFIER||1435||97|CALM1|protein_coding|CODING|ENST00000557020||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||4318|||CALM1|retained_intron|CODING|ENST00000556757||G),DOWNSTREAM(MODIFIER||1864|||CALM1|retained_intron|CODING|ENST00000553995||G),DOWNSTREAM(MODIFIER||328||83|CALM1|nonsense_mediated_decay|CODING|ENST00000553630||G),DOWNSTREAM(MODIFIER||883||113|CALM1|protein_coding|CODING|ENST00000553542||G),DOWNSTREAM(MODIFIER||1124|||CALM1|retained_intron|CODING|ENST00000553964||G),DOWNSTREAM(MODIFIER||824||113|CALM1|protein_coding|CODING|ENST00000544280||G),DOWNSTREAM(MODIFIER||1778|||CALM1|retained_intron|CODING|ENST00000555267||G),DOWNSTREAM(MODIFIER||1098||76|CALM1|nonsense_mediated_decay|CODING|ENST00000553422||G),DOWNSTREAM(MODIFIER||1185|||CALM1|retained_intron|CODING|ENST00000554296||G),DOWNSTREAM(MODIFIER||1146|||CALM1|retained_intron|CODING|ENST00000556721||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 14 90873714 Sibling 94A C T . . Gene=CALM1;MT=SNP;MM=CM;CADD=19.6;VMM=34.7;EFF=UTR_3_PRIME(MODIFIER||2653||149|CALM1|protein_coding|CODING|ENST00000356978|6|T),UPSTREAM(MODIFIER||2135|||RP11-471B22.2|antisense|NON_CODING|ENST00000555853||T),DOWNSTREAM(MODIFIER||2298||150|CALM1|protein_coding|CODING|ENST00000447653||T),DOWNSTREAM(MODIFIER||2874||97|CALM1|protein_coding|CODING|ENST00000557020||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||3303|||CALM1|retained_intron|CODING|ENST00000553995||T),DOWNSTREAM(MODIFIER||1767||83|CALM1|nonsense_mediated_decay|CODING|ENST00000553630||T),DOWNSTREAM(MODIFIER||2322||113|CALM1|protein_coding|CODING|ENST00000553542||T),DOWNSTREAM(MODIFIER||2563|||CALM1|retained_intron|CODING|ENST00000553964||T),DOWNSTREAM(MODIFIER||2263||113|CALM1|protein_coding|CODING|ENST00000544280||T),DOWNSTREAM(MODIFIER||3217|||CALM1|retained_intron|CODING|ENST00000555267||T),DOWNSTREAM(MODIFIER||2537||76|CALM1|nonsense_mediated_decay|CODING|ENST00000553422||T),DOWNSTREAM(MODIFIER||2624|||CALM1|retained_intron|CODING|ENST00000554296||T),DOWNSTREAM(MODIFIER||2585|||CALM1|retained_intron|CODING|ENST00000556721||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 2 166613696 Sibling 94A C T . . Gene=GALNT3;MT=SNP;MM=CM;CADD=34;VMM=37.87;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R418H|633|GALNT3|protein_coding|CODING|ENST00000392701|7|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R156H|371|GALNT3|protein_coding|CODING|ENST00000409882|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGc/cAc|R418H|463|GALNT3|protein_coding|CODING|ENST00000412248|8|T|WARNING_TRANSCRIPT_NO_STOP_CODON),NEXT_PROT[binding-site:Substrate](LOW||||633|GALNT3|protein_coding|CODING||7|T),UTR_3_PRIME(MODIFIER||2381||89|GALNT3|nonsense_mediated_decay|CODING|ENST00000437849|6|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||1432|||GALNT3|retained_intron|CODING|ENST00000463254||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 2 166650129 Sibling 94A G A . . Gene=GALNT3;MT=SNP;MM=CM;CADD=10.6;VMM=37.87;EFF=UPSTREAM(MODIFIER||1232|||AC009495.2|lincRNA|NON_CODING|ENST00000425688||A),DOWNSTREAM(MODIFIER||1238|||AC009495.4|lincRNA|NON_CODING|ENST00000428888||A),INTRON(MODIFIER||||633|GALNT3|protein_coding|CODING|ENST00000392701|1|A),INTRON(MODIFIER||||463|GALNT3|protein_coding|CODING|ENST00000412248|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||89|GALNT3|protein_coding|CODING|ENST00000431484|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER||||56|GALNT3|protein_coding|CODING|ENST00000414977|1|A|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||24|GALNT3|protein_coding|CODING|ENST00000422973|1|A|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 21 47542052 Sibling 94A C T . . Gene=COL6A2;MT=SNP;MM=CM;CADD=23.2;VMM=92.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P518S|1019|COL6A2|protein_coding|CODING|ENST00000300527|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P518S|828|COL6A2|protein_coding|CODING|ENST00000310645|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P518S|918|COL6A2|protein_coding|CODING|ENST00000357838|19|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P518S|828|COL6A2|protein_coding|CODING|ENST00000409416|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P518S|918|COL6A2|protein_coding|CODING|ENST00000397763|18|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cca/Tca|P59S|249|COL6A2|protein_coding|CODING|ENST00000413758|4|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||4617|||COL6A2|retained_intron|CODING|ENST00000485591||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 21 47544833 Sibling 94A C T . . Gene=COL6A2;MT=SNP;MM=CM;CADD=29.2;VMM=92.61;EFF=NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T590M|1019|COL6A2|protein_coding|CODING|ENST00000300527|23|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T590M|828|COL6A2|protein_coding|CODING|ENST00000310645|23|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T590M|918|COL6A2|protein_coding|CODING|ENST00000357838|23|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T590M|828|COL6A2|protein_coding|CODING|ENST00000409416|22|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T590M|918|COL6A2|protein_coding|CODING|ENST00000397763|22|T),NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION(MODERATE|MISSENSE|aCg/aTg|T131M|249|COL6A2|protein_coding|CODING|ENST00000413758|8|T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 3 53764497 Sibling 94A C A . . Gene=CACNA1D;MT=SNP;MM=CM;CADD=22.5;VMM=51.36;EFF=SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I770|2181|CACNA1D|protein_coding|CODING|ENST00000288139|17|A),SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I750|2161|CACNA1D|protein_coding|CODING|ENST00000350061|16|A),SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I750|2137|CACNA1D|protein_coding|CODING|ENST00000422281|16|A),SYNONYMOUS_CODING(LOW|SILENT|atC/atA|I443|1854|CACNA1D|protein_coding|CODING|ENST00000481478|11|A|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 3 53846135 Sibling 94A C T . . Gene=CACNA1D;MT=SNP;MM=CM;CADD=18.92;VMM=51.36;EFF=UTR_3_PRIME(MODIFIER||702||2181|CACNA1D|protein_coding|CODING|ENST00000288139|49|T),DOWNSTREAM(MODIFIER||227||594|CHDH|protein_coding|CODING|ENST00000315251||T),DOWNSTREAM(MODIFIER||63||2161|CACNA1D|protein_coding|CODING|ENST00000350061||T),DOWNSTREAM(MODIFIER||702||2137|CACNA1D|protein_coding|CODING|ENST00000422281||T),DOWNSTREAM(MODIFIER||600||1854|CACNA1D|protein_coding|CODING|ENST00000481478||T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||811||351|CACNA1D|protein_coding|CODING|ENST00000544977||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. ./. 10 105791086 Sibling 95A A G . . Gene=COL17A1;MT=SNP;MM=CM;CADD=17.54;VMM=70.65;EFF=UTR_3_PRIME(MODIFIER||907||1497|COL17A1|protein_coding|CODING|ENST00000353479|56|G),UTR_3_PRIME(MODIFIER||907||1415|COL17A1|protein_coding|CODING|ENST00000369733|52|G),UTR_3_PRIME(MODIFIER||907||65|COL17A1|protein_coding|CODING|ENST00000433822|4|G|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2095||1235|SLK|protein_coding|CODING|ENST00000369755||G),DOWNSTREAM(MODIFIER||2095||1204|SLK|protein_coding|CODING|ENST00000335753||G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 10 105794038 Sibling 95A C T . . Gene=COL17A1;MT=SNP;MM=CM;CADD=32;VMM=70.65;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G1274E|1497|COL17A1|protein_coding|CODING|ENST00000353479|52|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gAa|G1192E|1415|COL17A1|protein_coding|CODING|ENST00000369733|48|T),UPSTREAM(MODIFIER||1312||65|COL17A1|protein_coding|CODING|ENST00000433822||T|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 20 7990942 Sibling 95A G A . . Gene=TMX4;MT=SNP;MM=CM;CADD=28.3;VMM=38.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S66F|349|TMX4|protein_coding|CODING|ENST00000246024|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCc/tTc|S66F|197|TMX4|protein_coding|CODING|ENST00000527925|2|A|WARNING_TRANSCRIPT_INCOMPLETE),UTR_3_PRIME(MODIFIER||8681||79|TMX4|nonsense_mediated_decay|CODING|ENST00000462384|3|A),EXON(MODIFIER|||||TMX4|processed_transcript|CODING|ENST00000530935|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 20 7999519 Sibling 95A T C . . Gene=TMX4;MT=SNP;MM=CM;CADD=12.32;VMM=38.37;EFF=UTR_3_PRIME(MODIFIER||104||79|TMX4|nonsense_mediated_decay|CODING|ENST00000462384|2|C),UPSTREAM(MODIFIER||1030|||RP5-971N18.3|antisense|NON_CODING|ENST00000457707||C),UPSTREAM(MODIFIER||4942|||TMX4|processed_transcript|CODING|ENST00000530935||C),UPSTREAM(MODIFIER||351|||RP5-971N18.3|antisense|NON_CODING|ENST00000607924||C),UPSTREAM(MODIFIER||3754|||RP5-971N18.3|antisense|NON_CODING|ENST00000608601||C),INTRON(MODIFIER||||349|TMX4|protein_coding|CODING|ENST00000246024|1|C),INTRON(MODIFIER||||197|TMX4|protein_coding|CODING|ENST00000527925|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 9 113490928 Sibling 95A TTTA T . . Gene=MUSK;MT=INDEL;MM=CM;CADD=17.6;VMM=49.37;EFF=UPSTREAM(MODIFIER||970|||RP13-461N9.2|processed_pseudogene|NON_CODING|ENST00000446460||T),INTRON(MODIFIER||||869|MUSK|protein_coding|CODING|ENST00000189978|5|T),INTRON(MODIFIER||||869|MUSK|protein_coding|CODING|ENST00000374448|5|T),INTRON(MODIFIER||||861|MUSK|protein_coding|CODING|ENST00000416899|5|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 9 113562649 Sibling 95A A G . . Gene=MUSK;MT=SNP;MM=CM;CADD=23.5;VMM=49.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N664S|869|MUSK|protein_coding|CODING|ENST00000189978|14|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N664S|869|MUSK|protein_coding|CODING|ENST00000374448|15|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aGt|N656S|861|MUSK|protein_coding|CODING|ENST00000416899|13|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. ./. 10 81927021 Sibling 96A G C . . Gene=ANXA11;MT=SNP;MM=CM;CADD=27.6;VMM=87.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000265447|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000372231|5|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000438331|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000360615|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000422982|6|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R204G|505|ANXA11|protein_coding|CODING|ENST00000535999|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cga/Gga|R171G|472|ANXA11|protein_coding|CODING|ENST00000537102|7|C),DOWNSTREAM(MODIFIER||1815||149|ANXA11|protein_coding|CODING|ENST00000437799||C|WARNING_TRANSCRIPT_NO_STOP_CODON),EXON(MODIFIER|||||ANXA11|retained_intron|CODING|ENST00000481805|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 10 81932595 Sibling 96A G A . . Gene=ANXA11;MT=SNP;MM=CM;CADD=23.4;VMM=87.14;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000265447|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000372231|2|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000438331|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000360615|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000422982|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|505|ANXA11|protein_coding|CODING|ENST00000535999|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|P8L|149|ANXA11|protein_coding|CODING|ENST00000437799|1|A|WARNING_TRANSCRIPT_NO_STOP_CODON),START_GAINED(LOW||||472|ANXA11|protein_coding|CODING|ENST00000537102|3|A),UTR_5_PRIME(MODIFIER||1968||472|ANXA11|protein_coding|CODING|ENST00000537102|3|A),UPSTREAM(MODIFIER||3752|||ANXA11|retained_intron|CODING|ENST00000481805||A),EXON(MODIFIER|||||ANXA11|processed_transcript|CODING|ENST00000463657|4|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 17 78313281 Sibling 96A C A . . Gene=RNF213;MT=SNP;MM=CM;CADD=32;VMM=113.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T1754K|5256|RNF213|protein_coding|CODING|ENST00000508628|27|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aAg|T1705K|5207|RNF213|protein_coding|CODING|ENST00000582970|26|A),UPSTREAM(MODIFIER||668||3280|RNF213|protein_coding|CODING|ENST00000336301||A),DOWNSTREAM(MODIFIER||2977||1550|RNF213|protein_coding|CODING|ENST00000456466||A),DOWNSTREAM(MODIFIER||2581|||RNF213|retained_intron|CODING|ENST00000559070||A),DOWNSTREAM(MODIFIER||35|||RNF213|retained_intron|CODING|ENST00000571908||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 17 78321505 Sibling 96A G A . . Gene=RNF213;MT=SNP;MM=CM;CADD=24.7;VMM=113.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G3173S|5256|RNF213|protein_coding|CODING|ENST00000508628|30|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G3124S|5207|RNF213|protein_coding|CODING|ENST00000582970|29|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|G1197S|3280|RNF213|protein_coding|CODING|ENST00000336301|4|A),DOWNSTREAM(MODIFIER||4123|||CTD-2047H16.4|antisense|NON_CODING|ENST00000575034||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 19 11332560 Sibling 96A G A . . Gene=DOCK6;MT=SNP;MM=CM;CADD=27.7;VMM=75.74;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1173W|2047|DOCK6|protein_coding|CODING|ENST00000294618|28|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R512W|1386|DOCK6|protein_coding|CODING|ENST00000319867|14|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R461W|1335|DOCK6|protein_coding|CODING|ENST00000587656|10|A),UPSTREAM(MODIFIER||4588|||DOCK6|retained_intron|CODING|ENST00000588429||A),UPSTREAM(MODIFIER||4616|||DOCK6|retained_intron|CODING|ENST00000592403||A),DOWNSTREAM(MODIFIER||102|||DOCK6|retained_intron|CODING|ENST00000592550||A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 19 11342885 Sibling 96A A G . . Gene=DOCK6;MT=SNP;MM=CM;CADD=21;VMM=75.74;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P237|1386|DOCK6|protein_coding|CODING|ENST00000319867|8|G),SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P186|1335|DOCK6|protein_coding|CODING|ENST00000587656|4|G),SYNONYMOUS_CODING(LOW|SILENT|ccT/ccC|P134|183|DOCK6|protein_coding|CODING|ENST00000585904|3|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||2877|||DOCK6|retained_intron|CODING|ENST00000590452||G),DOWNSTREAM(MODIFIER||1534|||RN7SL298P|misc_RNA|NON_CODING|ENST00000581369||G),DOWNSTREAM(MODIFIER||3690|||DOCK6|retained_intron|CODING|ENST00000591750||G),INTRON(MODIFIER||||2047|DOCK6|protein_coding|CODING|ENST00000294618|22|G),INTRON(MODIFIER||||462|DOCK6|protein_coding|CODING|ENST00000590680|8|G|WARNING_TRANSCRIPT_NO_START_CODON) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 2 26414523 Sibling 96A TAGA T . . Gene=HADHA;MT=INDEL;MM=CM;CADD=10.61;VMM=35.7;EFF=DOWNSTREAM(MODIFIER||1992||874|GAREML|protein_coding|CODING|ENST00000401533||T),DOWNSTREAM(MODIFIER||2011||664|GAREML|protein_coding|CODING|ENST00000407684||T),DOWNSTREAM(MODIFIER||4197|||GAREML|processed_transcript|CODING|ENST00000496070||T),INTRON(MODIFIER||||763|HADHA|protein_coding|CODING|ENST00000380649|18|T),INTRON(MODIFIER||||249|HADHA|protein_coding|CODING|ENST00000492433|4|T|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 2 26418053 Sibling 96A C G . . Gene=HADHA;MT=SNP;MM=CM;CADD=32;VMM=35.7;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gag/Cag|E510Q|763|HADHA|protein_coding|CODING|ENST00000380649|15|G),UPSTREAM(MODIFIER||15||249|HADHA|protein_coding|CODING|ENST00000492433||G|WARNING_TRANSCRIPT_INCOMPLETE) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 6 152265352 Sibling 96A C T . . Gene=ESR1;MT=SNP;MM=CM;CADD=27;VMM=43.33;EFF=PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||595|ESR1|protein_coding|CODING||4|T),PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||595|ESR1|protein_coding|CODING||6|T),PROTEIN_PROTEIN_INTERACTION_LOCUS(HIGH||||595|ESR1|protein_coding|CODING||5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R269C|595|ESR1|protein_coding|CODING|ENST00000206249|4|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R269C|595|ESR1|protein_coding|CODING|ENST00000440973|6|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R269C|595|ESR1|protein_coding|CODING|ENST00000338799|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R269C|595|ESR1|protein_coding|CODING|ENST00000443427|5|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Tgc|R96C|310|ESR1|protein_coding|CODING|ENST00000427531|4|T),INTRON(MODIFIER||||483|ESR1|protein_coding|CODING|ENST00000456483|4|T),INTRON(MODIFIER||||334|ESR1|protein_coding|CODING|ENST00000406599|1|T),INTRON(MODIFIER||||106|ESR1|protein_coding|CODING|ENST00000415488|1|T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ESR1|processed_transcript|CODING|ENST00000482101|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 6 152421315 Sibling 96A C T . . Gene=ESR1;MT=SNP;MM=CM;CADD=14.06;VMM=43.33;EFF=UTR_3_PRIME(MODIFIER||1214||595|ESR1|protein_coding|CODING|ENST00000206249|8|T),UTR_3_PRIME(MODIFIER||1214||595|ESR1|protein_coding|CODING|ENST00000440973|10|T),UTR_3_PRIME(MODIFIER||1214||483|ESR1|protein_coding|CODING|ENST00000456483|8|T),UTR_3_PRIME(MODIFIER||1214||595|ESR1|protein_coding|CODING|ENST00000443427|9|T),DOWNSTREAM(MODIFIER||1127||595|ESR1|protein_coding|CODING|ENST00000338799||T),DOWNSTREAM(MODIFIER||1202||334|ESR1|protein_coding|CODING|ENST00000406599||T),INTRON(MODIFIER||||310|ESR1|protein_coding|CODING|ENST00000427531|6|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 ./. 11 113142590 Sibling 97A G A . . Gene=NCAM1;MT=SNP;MM=CM;CADD=18.8;VMM=32.58;EFF=SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T865|907|NCAM1|protein_coding|CODING|ENST00000524665|18|A|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T806|848|NCAM1|protein_coding|CODING|ENST00000316851|17|A),UPSTREAM(MODIFIER||1152|||NCAM1|processed_transcript|CODING|ENST00000528158||A),DOWNSTREAM(MODIFIER||1629|||NCAM1|processed_transcript|CODING|ENST00000526427||A),INTRON(MODIFIER|||||NCAM1-AS1|antisense|NON_CODING|ENST00000526229|1|A),INTRON(MODIFIER|||||NCAM1-AS1|antisense|NON_CODING|ENST00000533638|1|A),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000531915|20|A),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000397957|19|A),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000531044|18|A),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000533073|7|A),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000528590|9|A),EXON(MODIFIER|||||NCAM1|retained_intron|CODING|ENST00000531927|3|A),EXON(MODIFIER|||||NCAM1|retained_intron|CODING|ENST00000533226|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 11 113146754 Sibling 97A T C . . Gene=NCAM1;MT=SNP;MM=CM;CADD=15.41;VMM=32.58;EFF=UTR_3_PRIME(MODIFIER||645||848|NCAM1|protein_coding|CODING|ENST00000316851|18|C),UPSTREAM(MODIFIER||2131|||NCAM1-AS1|antisense|NON_CODING|ENST00000526229||C),UPSTREAM(MODIFIER||2226|||NCAM1-AS1|antisense|NON_CODING|ENST00000533638||C),DOWNSTREAM(MODIFIER||543||907|NCAM1|protein_coding|CODING|ENST00000524665||C|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2405|||RP11-839D17.3|antisense|NON_CODING|ENST00000529416||C),DOWNSTREAM(MODIFIER||645|||NCAM1|processed_transcript|CODING|ENST00000531915||C),DOWNSTREAM(MODIFIER||468|||NCAM1|processed_transcript|CODING|ENST00000531044||C),DOWNSTREAM(MODIFIER||69|||NCAM1|processed_transcript|CODING|ENST00000533073||C),DOWNSTREAM(MODIFIER||584|||NCAM1|processed_transcript|CODING|ENST00000528590||C),DOWNSTREAM(MODIFIER||2931|||NCAM1|retained_intron|CODING|ENST00000531927||C),DOWNSTREAM(MODIFIER||750|||NCAM1|retained_intron|CODING|ENST00000533226||C),DOWNSTREAM(MODIFIER||2521|||RP11-839D17.3|antisense|NON_CODING|ENST00000526487||C),DOWNSTREAM(MODIFIER||3351|||RP11-839D17.3|antisense|NON_CODING|ENST00000533504||C),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000397957|20|C),EXON(MODIFIER|||||NCAM1|processed_transcript|CODING|ENST00000528158|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 16 21073942 Sibling 97A C T . . Gene=DNAH3;MT=SNP;MM=CM;CADD=34;VMM=77.91;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1194Q|4116|DNAH3|protein_coding|CODING|ENST00000261383|25|T),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|R1194Q|1887|DNAH3|protein_coding|CODING|ENST00000415178|25|T),EXON(MODIFIER|||||DNAH3|retained_intron|CODING|ENST00000572640|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 16 21139137 Sibling 97A C A . . Gene=DNAH3;MT=SNP;MM=CM;CADD=17.87;VMM=77.91;EFF=SPLICE_SITE_REGION+INTRON(LOW||||4116|DNAH3|protein_coding|CODING|ENST00000261383|7|A),SPLICE_SITE_REGION+INTRON(LOW||||1887|DNAH3|protein_coding|CODING|ENST00000415178|7|A),SPLICE_SITE_REGION+INTRON(LOW|||||DNAH3|retained_intron|CODING|ENST00000396036|8|A),INTRON(MODIFIER|||||CTC-508F8.1|antisense|NON_CODING|ENST00000575612|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 19 50946929 Sibling 97A G A . . Gene=MYBPC2;MT=SNP;MM=CM;CADD=9.392;VMM=30.37;EFF=INTRON(MODIFIER||||1141|MYBPC2|protein_coding|CODING|ENST00000357701|10|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 19 50967735 Sibling 97A C T . . Gene=MYBPC2;MT=SNP;MM=CM;CADD=32;VMM=30.37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R1121W|1141|MYBPC2|protein_coding|CODING|ENST00000357701|27|T),DOWNSTREAM(MODIFIER||2309||247|FAM71E1|protein_coding|CODING|ENST00000600100||T),DOWNSTREAM(MODIFIER||2307||146|FAM71E1|non_stop_decay|CODING|ENST00000593796||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2310||192|FAM71E1|non_stop_decay|CODING|ENST00000602178||T|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||2310||231|FAM71E1|protein_coding|CODING|ENST00000595790||T),DOWNSTREAM(MODIFIER||2312||168|FAM71E1|nonsense_mediated_decay|CODING|ENST00000599206||T),EXON(MODIFIER|||||MYBPC2|retained_intron|CODING|ENST00000597498|1|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 19 52824940 Sibling 97A G A . . Gene=ZNF480;MT=SNP;MM=CM;CADD=17.32;VMM=59.61;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R146K|535|ZNF480|nonsense_mediated_decay|CODING|ENST00000468240|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R146K|535|ZNF480|protein_coding|CODING|ENST00000595962|5|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R103K|492|ZNF480|protein_coding|CODING|ENST00000334564|4|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G61R|61|ZNF480|protein_coding|CODING|ENST00000490272|3|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aAg|R69K|458|ZNF480|protein_coding|CODING|ENST00000335090|3|A),DOWNSTREAM(MODIFIER||40||164|ZNF480|protein_coding|CODING|ENST00000598016||A|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||CTD-2525I3.6|antisense|NON_CODING|ENST00000594379|3|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 19 52825413 Sibling 97A C T . . Gene=ZNF480;MT=SNP;MM=CM;CADD=28.1;VMM=59.61;EFF=STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R304*|535|ZNF480|nonsense_mediated_decay|CODING|ENST00000468240|5|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R304*|535|ZNF480|protein_coding|CODING|ENST00000595962|5|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R261*|492|ZNF480|protein_coding|CODING|ENST00000334564|4|T),STOP_GAINED(HIGH|NONSENSE|Cga/Tga|R227*|458|ZNF480|protein_coding|CODING|ENST00000335090|3|T),UTR_3_PRIME(MODIFIER||468||61|ZNF480|protein_coding|CODING|ENST00000490272|3|T),DOWNSTREAM(MODIFIER||513||164|ZNF480|protein_coding|CODING|ENST00000598016||T|WARNING_TRANSCRIPT_NO_STOP_CODON),INTRON(MODIFIER|||||CTD-2525I3.6|antisense|NON_CODING|ENST00000594379|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 20 47246069 Sibling 97A C T . . Gene=PREX1;MT=SNP;MM=CM;CADD=23.3;VMM=51.06;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Acc|A1562T|1659|PREX1|protein_coding|CODING|ENST00000371941|37|T),UTR_3_PRIME(MODIFIER||1208||882|PREX1|nonsense_mediated_decay|CODING|ENST00000482556|19|T|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER||1208||1561|PREX1|protein_coding|CODING|ENST00000396220|36|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 20 47282861 Sibling 97A C T . . Gene=PREX1;MT=SNP;MM=CM;CADD=18.22;VMM=51.06;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A566|1659|PREX1|protein_coding|CODING|ENST00000371941|15|T),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|A566|1561|PREX1|protein_coding|CODING|ENST00000396220|15|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 21 28295760 Sibling 97A T C . . Gene=ADAMTS5;MT=SNP;MM=CM;CADD=11.51;VMM=41.08;EFF=UTR_3_PRIME(MODIFIER||612||930|ADAMTS5|protein_coding|CODING|ENST00000284987|8|C),INTRON(MODIFIER|||||AP001601.2|antisense|NON_CODING|ENST00000426771|2|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 21 28302332 Sibling 97A G A . . Gene=ADAMTS5;MT=SNP;MM=CM;CADD=33;VMM=41.08;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R700W|930|ADAMTS5|protein_coding|CODING|ENST00000284987|7|A),INTRON(MODIFIER|||||AP001601.2|antisense|NON_CODING|ENST00000426771|2|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 22 24491971 Sibling 97A C T . . Gene=CABIN1;MT=SNP;MM=CM;CADD=14.38;VMM=31.2;EFF=SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V1288|2220|CABIN1|protein_coding|CODING|ENST00000263119|25|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V1238|2141|CABIN1|protein_coding|CODING|ENST00000405822|24|T),SYNONYMOUS_CODING(LOW|SILENT|gtC/gtT|V1288|2220|CABIN1|protein_coding|CODING|ENST00000398319|25|T),UPSTREAM(MODIFIER||2105|||CABIN1|retained_intron|CODING|ENST00000467937||T),DOWNSTREAM(MODIFIER||4004|||CABIN1|retained_intron|CODING|ENST00000496016||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 22 24494347 Sibling 97A G A . . Gene=CABIN1;MT=SNP;MM=CM;CADD=19.46;VMM=31.2;EFF=UPSTREAM(MODIFIER||3305|||KB-318B8.7|sense_intronic|NON_CODING|ENST00000444093||A),INTRON(MODIFIER||||2220|CABIN1|protein_coding|CODING|ENST00000263119|26|A),INTRON(MODIFIER||||2141|CABIN1|protein_coding|CODING|ENST00000405822|25|A),INTRON(MODIFIER||||2220|CABIN1|protein_coding|CODING|ENST00000398319|26|A),INTRON(MODIFIER|||||CABIN1|retained_intron|CODING|ENST00000467937|1|A) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 3 52420315 Sibling 97A C T . . Gene=DNAH1;MT=SNP;MM=CM;CADD=21.7;VMM=50.48;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A2922V|4265|DNAH1|protein_coding|CODING|ENST00000420323|55|T),UPSTREAM(MODIFIER||2248||928|DNAH1|nonsense_mediated_decay|CODING|ENST00000490713||T|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||2584||191|DNAH1|protein_coding|CODING|ENST00000480649||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|55|T),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000488988|3|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 3 52429410 Sibling 97A C T . . Gene=DNAH1;MT=SNP;MM=CM;CADD=19.32;VMM=50.48;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A3685|4265|DNAH1|protein_coding|CODING|ENST00000420323|69|T),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|A585|928|DNAH1|nonsense_mediated_decay|CODING|ENST00000490713|12|T|WARNING_TRANSCRIPT_NO_START_CODON),DOWNSTREAM(MODIFIER||2838||191|DNAH1|protein_coding|CODING|ENST00000480649||T|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000486752|68|T),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000488988|16|T),EXON(MODIFIER|||||DNAH1|retained_intron|CODING|ENST00000487254|2|T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 3 147105322 Sibling 97A A AT . . Gene=ZIC4;MT=INDEL;MM=CM;CADD=12.12;VMM=33.72;EFF=UTR_3_PRIME(MODIFIER||1323||384|ZIC4|protein_coding|CODING|ENST00000525172|5|AT),UTR_3_PRIME(MODIFIER||1323||334|ZIC4|protein_coding|CODING|ENST00000383075|5|AT),UTR_3_PRIME(MODIFIER||1323||372|ZIC4|protein_coding|CODING|ENST00000425731|5|AT),DOWNSTREAM(MODIFIER||83|||ZIC4-AS1|antisense|NON_CODING|ENST00000462168||AT),DOWNSTREAM(MODIFIER||10|||ZIC4|retained_intron|CODING|ENST00000494569||AT),DOWNSTREAM(MODIFIER||10|||ZIC4|retained_intron|CODING|ENST00000493664||AT),DOWNSTREAM(MODIFIER||890||334|ZIC4|protein_coding|CODING|ENST00000484399||AT),DOWNSTREAM(MODIFIER||1010||334|ZIC4|protein_coding|CODING|ENST00000473123||AT),DOWNSTREAM(MODIFIER||1114|||ZIC4|processed_transcript|CODING|ENST00000463850||AT),DOWNSTREAM(MODIFIER||1171|||ZIC4|processed_transcript|CODING|ENST00000480015||AT),DOWNSTREAM(MODIFIER||1206|||ZIC4|processed_transcript|CODING|ENST00000464502||AT),DOWNSTREAM(MODIFIER||1228||128|ZIC4|protein_coding|CODING|ENST00000491672||AT),DOWNSTREAM(MODIFIER||1306|||ZIC4|processed_transcript|CODING|ENST00000475502||AT),EXON(MODIFIER|||||ZIC4|processed_transcript|CODING|ENST00000472749|3|AT) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 3 147114032 Sibling 97A C G . . Gene=ZIC4;MT=SNP;MM=CM;CADD=25.5;VMM=33.72;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G149R|384|ZIC4|protein_coding|CODING|ENST00000525172|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G99R|334|ZIC4|protein_coding|CODING|ENST00000383075|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G137R|372|ZIC4|protein_coding|CODING|ENST00000425731|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G99R|334|ZIC4|protein_coding|CODING|ENST00000484399|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G99R|334|ZIC4|protein_coding|CODING|ENST00000473123|3|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|G99R|228|ZIC4|protein_coding|CODING|ENST00000462748|3|G|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||3854|||ZIC4|processed_transcript|CODING|ENST00000472749||G),UPSTREAM(MODIFIER||3312|||ZIC4|retained_intron|CODING|ENST00000494569||G),UPSTREAM(MODIFIER||3815|||ZIC4|processed_transcript|CODING|ENST00000463850||G),UPSTREAM(MODIFIER||2358|||ZIC4|processed_transcript|CODING|ENST00000464502||G),UPSTREAM(MODIFIER||3848|||ZIC4|processed_transcript|CODING|ENST00000475502||G),DOWNSTREAM(MODIFIER||62||76|ZIC4|protein_coding|CODING|ENST00000484586||G|WARNING_TRANSCRIPT_INCOMPLETE),DOWNSTREAM(MODIFIER||90||67|ZIC4|protein_coding|CODING|ENST00000463250||G|WARNING_TRANSCRIPT_INCOMPLETE),INTRON(MODIFIER||||128|ZIC4|protein_coding|CODING|ENST00000491672|2|G),INTRON(MODIFIER|||||ZIC1|processed_transcript|CODING|ENST00000472523|1|G),INTRON(MODIFIER||||135|ZIC1|protein_coding|CODING|ENST00000488404|1|G|WARNING_TRANSCRIPT_NO_START_CODON),EXON(MODIFIER|||||ZIC4|retained_intron|CODING|ENST00000493664|1|G) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 9 113128737 Sibling 97A C T . . Gene=SVEP1;MT=SNP;MM=CM;CADD=19.3;VMM=52.09;EFF=UTR_3_PRIME(MODIFIER||82||3571|SVEP1|protein_coding|CODING|ENST00000401783|48|T),UTR_3_PRIME(MODIFIER||82||1497|SVEP1|protein_coding|CODING|ENST00000297826|13|T),UTR_3_PRIME(MODIFIER||82||3548|SVEP1|protein_coding|CODING|ENST00000374469|48|T),DOWNSTREAM(MODIFIER||3135|||RNU6-1039P|snRNA|NON_CODING|ENST00000383931||T) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0 9 113149678 Sibling 97A G C . . Gene=SVEP1;MT=SNP;MM=CM;CADD=22.3;VMM=52.09;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T3316R|3571|SVEP1|protein_coding|CODING|ENST00000401783|42|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T1242R|1497|SVEP1|protein_coding|CODING|ENST00000297826|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCg/aGg|T3293R|3548|SVEP1|protein_coding|CODING|ENST00000374469|42|C) GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 1/0