UCSCLink collection familyId in affected status personIds location variant size publicaton genomic region number of genes genes LINK SSC 12613 affected 12613.p1 chr1:1305145-1314126 duplication 8982 coding 3 "ACAP3,INTS11,PUSL1" LINK AGRE AU2725202_AU2725201 affected AU2725301 chr1:3069177-4783791 duplication 1714615 coding 13 "AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LRRC47,MEGF6,PRDM16,SMIM1,TP73,TPRG1L,WRAP73" LINK SSC 13424 unaffected 13424.s1 chr1:3975501-3977800 deletion 2300 intergenic 0 LINK SSC 12852 affected 12852.p1 chr1:6647401-6650500 deletion 3100 inter-coding_intronic 1 DNAJC11 LINK SSC 13776 affected 13776.p1 chr1:8652301-8657600 deletion 5300 coding 1 RERE LINK SSC 13373 unaffected 13373.s1 chr1:9992001-9994100 deletion 2100 intergenic 0 LINK SSC 14198 affected 14198.p1 chr1:12224601-12227300 deletion 2700 intergenic 0 LINK SSC 13259 affected 13259.p1 chr1:15687701-15696200 deletion 8500 inter-coding_intronic 1 PLEKHM2 LINK SSC 14696 unaffected 14696.s1 chr1:30388501-30398807 deletion 10307 intergenic 0 LINK SSC 14534 affected 14534.p1 chr1:40513501-40534200 deletion 20700 Sanders 2015 coding 2 "EXO5,ZNF684" LINK SSC 14534 unaffected 14534.s1 chr1:40513501-40534200 deletion 20700 Sanders 2015 coding 2 "EXO5,ZNF684" LINK SSC 13447 unaffected 13447.s1 chr1:48141901-48243413 duplication 101513 coding 1 SLC5A9 LINK SSC 13812 affected 13812.p1 chr1:49846201-49848300 duplication 2100 inter-coding_intronic 1 AGBL4 LINK SSC 12021 affected 12021.p1 chr1:62652201-62703647 deletion 51447 Sanders 2015 coding 1 DOCK7 LINK SSC 14697 affected 14697.p1 chr1:90083801-90095600 deletion 11800 intergenic 0 LINK SSC 13346 affected 13346.p1 chr1:93078701-105286800 deletion 5439000 Sanders 2015 coding 49 "ABCA4,ABCD3,AGL,ALG14,AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,ARHGAP29,BCAR3,CCDC18,CDC14A,CNN3,COL11A1,DBT,DNTTIP2,DPH5,DPYD,DR1,EXTL2,F3,FNBP1L,FRRS1,GCLM,GPR88,LOC101928436,LRRC39,MFSD14A,MTF2,OLFM3,PALMD,PLPPR4,PLPPR5,PTBP2,RNPC3,RTCA,RWDD3,S1PR1,SASS6,SLC30A7,SLC35A3,SLC44A3,SNX7,TMED5,TMEM56,TMEM56-RWDD3,TRMT13,VCAM1" LINK SSC 13649 unaffected 13649.s1 chr1:108817301-108819500 deletion 2200 inter-coding_intronic 1 AKNAD1 LINK SSC 13346 affected 13346.p1 chr1:112016501-112981398 deletion 964898 Sanders 2015 coding 9 "CAPZA1,CTTNBP2NL,FAM19A3,MOV10,PPM1J,RHOC,SLC16A1,ST7L,WNT2B" LINK SSC 11989 unaffected 11989.s1 chr1:202771301-202773900 deletion 2600 coding 1 KDM5B LINK AGRE AU3777202_AU3777201 affected AU3777303 chr1:211712814-211722346 deletion 9533 intergenic 0 LINK SSC 13971 unaffected 13971.s1 chr1:218504701-218549300 deletion 44600 noncoding 2 "C1orf143,MIR548F3" LINK SSC 12010 unaffected 12010.s1 chr1:223986001-223996000 deletion 10000 noncoding 2 "GTF2IP20,LOC100287497" LINK AGRE AU2997202_AU2997201 affected AU2997301 chr1:225968501-226068899 duplication 100400 coding 2 "H3F3A,SDE2" LINK SSC 12161 affected 12161.p1 chr1:226785001-226793000 deletion 8000 intergenic 0 LINK SSC 13876 affected 13876.p1 chr1:238725802-238755482 duplication 24099 intergenic 0 LINK SSC 13061 affected 13061.p1 chr1:240305480-240314000 deletion 8521 inter-coding_intronic 1 FMN2 LINK SSC 11110 affected 11110.p1 chr1:243067890-243110800 deletion 42911 noncoding 1 LINC01347 LINK AGRE AU1197202_AU1197201 affected AU1197302 chr1:244569799-244572298 deletion 2500 inter-coding_intronic 1 CATSPERE LINK SSC 13147 affected 13147.p1 chr2:23810134-23828103 deletion 17970 coding 1 ATAD2B LINK SSC 14362 affected 14362.p1 chr2:27179001-27185300 deletion 6300 intergenic 0 LINK SSC 14008 affected 14008.p1 chr2:29052901-29060900 deletion 8000 intergenic 0 LINK SSC 13836 affected 13836.p1 chr2:43524901-43527700 duplication 2800 inter-coding_intronic 1 THADA LINK SSC 11152 affected 11152.p1 chr2:47603301-47613900 deletion 10600 Sanders 2015 intergenic 0 LINK SSC 13962 affected 13962.p1 chr2:50562601-51028500 deletion 465900 Sanders 2015 coding 1 NRXN1 LINK SSC 13580 affected 13580.p1 chr2:51015001-51084500 deletion 69500 Sanders 2015 coding 1 NRXN1 LINK SSC 13493 affected 13493.p1 chr2:52851901-53053700 duplication 201800 Sanders 2015 intergenic 0 LINK SSC 13629 unaffected 13629.s1 chr2:61272127-61311400 duplication 39274 coding 1 USP34 LINK AGRE AU3768202_AU3768201 affected AU3768303 chr2:84642177-84645176 deletion 3000 inter-coding_intronic 1 DNAH6 LINK SSC 11407 unaffected 11407.s1 chr2:85311701-85314200 deletion 2500 intergenic 0 LINK AGRE AU1586202_AU1586201 affected AU1586303 chr2:98330638-98333137 duplication 2500 intergenic 0 LINK AGRE AU055301_AU055302 affected AU055304 chr2:131264581-131627233 deletion 362653 coding 5 "CCDC74A,MZT2A,POTEE,RAB6D,TUBA3D" LINK AGRE AU2139202_AU2139201 affected AU2139304 chr2:137689231-137693930 deletion 4700 intergenic 0 LINK AGRE AU1223202_AU1223201 affected AU1223302 chr2:149511687-149515015 deletion 3329 intergenic 0 LINK AGRE AU2793202_AU2793201 affected AU2793301 chr2:154003588-154005587 duplication 2000 inter-coding_intronic 1 GALNT13 LINK SSC 13016 unaffected 13016.s1 chr2:160804701-160808000 deletion 3300 intergenic 0 LINK SSC 13302 affected 13302.p1 chr2:169874601-169886300 deletion 11700 coding 1 UBR3 LINK SSC 14415 affected 14415.p1 chr2:189113201-189135544 deletion 22344 inter-coding_intronic 1 COL5A2 LINK SSC 13504 unaffected 13504.s1 chr2:208805901-208817200 deletion 11300 noncoding 1 LOC101927960 LINK SSC 12861 unaffected 12861.s1 chr2:215277001-215283733 deletion 6733 intergenic 0 LINK SSC 11046 affected 11046.p1 chr3:4116701-4837700 deletion 721000 Sanders 2015 coding 3 "ITPR1,SETMAR,SUMF1" LINK SSC 11046 affected 11046.p1 chr3:4996799-5010099 duplication 13301 intergenic 0 LINK SSC 14210 affected 14210.p1 chr3:22991601-22995300 deletion 3700 intergenic 0 LINK SSC 11838 affected 11838.p1 chr3:27492401-27514200 deletion 21800 intergenic 0 LINK SSC 14662 affected 14662.p1 chr3:30796201-30800100 deletion 3900 inter-coding_intronic 1 GADL1 LINK SSC 11696 affected 11696.p1 chr3:37236601-37409137 deletion 172537 Sanders 2015 coding 1 GOLGA4 LINK SSC 14590 affected 14590.p1 chr3:60854801-60857200 duplication 2400 peripheral 1 FHIT LINK AGRE AU2317202_AU2317201 affected AU2317301 chr3:60960929-60991128 deletion 30200 peripheral 1 FHIT LINK SSC 12032 affected 12032.p1 chr3:67083420-72210353 deletion 5126934 Sanders 2015 coding 15 "ARL6IP5,EIF4E3,EOGT,FAM19A1,FAM19A4,FOXP1,FRMD4B,GPR27,LMOD3,MDFIC2,MITF,PROK2,SUCLG2,TMF1,UBA3" LINK SSC 13649 affected 13649.p1 chr3:68718401-68721900 duplication 3500 intergenic 0 LINK SSC 11479 affected 11479.p1 chr3:80527601-80555800 deletion 28200 Sanders 2015 intergenic 0 LINK SSC 11227 affected 11227.p1 chr3:105250701-105329648 deletion 78948 Sanders 2015 intergenic 0 LINK AGRE AU0911202_AU0911201 affected AU0911302 chr3:124759554-126072144 duplication 1312591 Leppa 2016 coding 10 "ALG1L,HEG1,ITGB5,MUC13,OSBPL11,ROPN1B,SLC12A8,SLC41A3,SNX4,ZNF148" LINK AGRE AU1953202_AU1953201 affected AU1953302 chr3:126692258-126694457 duplication 2200 intergenic 0 LINK SSC 13095 unaffected 13095.s1 chr3:129465801-129467800 deletion 2000 coding 1 IFT122 LINK SSC 13348 unaffected 13348.s1 chr3:135586728-135768700 duplication 181973 Sanders 2015 intergenic 0 LINK SSC 11611 affected 11611.p1 chr3:140901248-140907406 deletion 6159 intergenic 0 LINK SSC 11450 affected 11450.p1 chr3:164452101-164471813 deletion 19713 Sanders 2015 intergenic 0 LINK AGRE AU1365202_AU1365201 affected AU1365301 chr3:186782912-186788211 deletion 5300 coding 1 EIF4A2 LINK SSC 14595 affected 14595.p1 chr3:195986227-197654159 deletion 1667933 Sanders 2015 coding 22 "BDH1,CEP19,DLG1,FBXO45,MELTF,NCBP2,NCBP2-AS2,NRROS,PAK2,PCYT1A,PIGX,PIGZ,RNF168,SENP5,SLC51A,SMCO1,TCTEX1D2,TFRC,TM4SF19,UBXN7,WDR53,ZDHHC19" LINK SSC 11079 affected 11079.p1 chr3:195990717-197630600 deletion 1639884 Sanders 2015 coding 22 "BDH1,CEP19,DLG1,FBXO45,MELTF,NCBP2,NCBP2-AS2,NRROS,PAK2,PCYT1A,PIGX,PIGZ,RNF168,SENP5,SLC51A,SMCO1,TCTEX1D2,TFRC,TM4SF19,UBXN7,WDR53,ZDHHC19" LINK SSC 13064 affected 13064.p1 chr3:195996901-197634900 deletion 1638000 Sanders 2015 coding 22 "BDH1,CEP19,DLG1,FBXO45,MELTF,NCBP2,NCBP2-AS2,NRROS,PAK2,PCYT1A,PIGX,PIGZ,RNF168,SENP5,SLC51A,SMCO1,TCTEX1D2,TFRC,TM4SF19,UBXN7,WDR53,ZDHHC19" LINK SSC 14370 affected 14370.p1 chr4:1164464-1170615 duplication 6152 coding 1 SPON2 LINK SSC 12399 affected 12399.p1 chr4:3436401-3443200 deletion 6800 coding 2 "HGFAC,RGS12" LINK SSC 14370 affected 14370.p1 chr4:7049816-7056982 duplication 7167 coding 1 TADA2B LINK SSC 14129 affected 14129.p1 chr4:7998801-8004100 deletion 5300 inter-coding_intronic 1 ABLIM2 LINK SSC 13136 unaffected 13136.s1 chr4:23361536-23368416 deletion 6881 intergenic 0 LINK SSC 12674 affected 12674.p1 chr4:36611031-36623697 deletion 12667 noncoding 1 LINC02505 LINK SSC 12962 unaffected 12962.s1 chr4:39589901-39603000 deletion 13100 inter-coding_intronic 1 SMIM14 LINK SSC 12661 affected 12661.p1 chr4:40451701-40457100 deletion 5400 peripheral 1 RBM47 LINK SSC 11546 unaffected 11546.s1 chr4:54790001-54793200 deletion 3200 intergenic 0 LINK SSC 14225 affected 14225.p1 chr4:65506601-65513400 deletion 6800 inter-coding_intronic 1 EPHA5 LINK SSC 12134 unaffected 12134.s1 chr4:92123601-92127000 deletion 3400 intergenic 0 LINK SSC 12329 unaffected 12329.s1 chr4:92877601-92920200 deletion 42600 Sanders 2015 inter-coding_intronic 1 GRID2 LINK SSC 13666 affected 13666.p1 chr4:93122101-93158900 deletion 36800 Sanders 2015 inter-coding_intronic 1 GRID2 LINK SSC 11920 unaffected 11920.s1 chr4:143884601-144124900 deletion 240300 Sanders 2015 coding 3 "GYPA,GYPB,GYPE" LINK SSC 13088 unaffected 13088.s1 chr4:167755401-167771100 duplication 15700 intergenic 0 LINK AGRE AU1782202_AU1782201 affected AU1782301 chr4:175488950-175499049 deletion 10100 intergenic 0 LINK SSC 14535 unaffected 14535.s1 chr4:182708701-184116300 duplication 1407600 Sanders 2015 coding 11 "CDKN2AIP,CLDN22,CLDN24,DCTD,ENPP6,ING2,RWDD4,STOX2,TENM3,TRAPPC11,WWC2" LINK SSC 14477 affected 14477.p1 chr5:4933501-4946500 deletion 13000 intergenic 0 LINK SSC 13204 unaffected 13204.s1 chr5:11200501-11203900 deletion 3400 inter-coding_intronic 1 CTNND2 LINK SSC 12289 affected 12289.p1 chr5:11351101-11439455 deletion 88355 Sanders 2015 coding 1 CTNND2 LINK SSC 14661 unaffected 14661.s1 chr5:16419901-16425100 duplication 5200 noncoding 1 LINC02150 LINK SSC 12888 unaffected 12888.s1 chr5:22287201-22551425 deletion 264225 Sanders 2015 peripheral 1 CDH12 LINK AGRE AU1218202_AU1218201 affected AU1218302 chr5:31859183-31865088 deletion 5906 inter-coding_intronic 1 PDZD2 LINK SSC 14532 affected 14532.p1 chr5:35979301-38224100 duplication 2244800 Sanders 2015 coding 12 "CPLANE1,GDNF,LMBRD2,NADK2,NIPBL,NUP155,RANBP3L,SKP2,SLC1A3,UGT3A1,UGT3A2,WDR70" LINK SSC 12572 unaffected 12572.s1 chr5:46340601-46363650 duplication 23050 intergenic 0 LINK SSC 12369 unaffected 12369.s1 chr5:62944601-62952300 deletion 7700 intergenic 0 LINK SSC 13737 affected 13737.p1 chr5:67758301-67762000 deletion 3700 intergenic 0 LINK SSC 12575 unaffected 12575.s1 chr5:72334394-72356874 deletion 22481 coding 1 PTCD2 LINK SSC 13230 affected 13230.p1 chr5:76307201-76309400 deletion 2200 inter-coding_intronic 1 SV2C LINK SSC 11027 affected 11027.p1 chr5:76722601-76726000 deletion 3400 inter-coding_intronic 1 F2R LINK SSC 12552 affected 12552.p1 chr5:82805501-82809500 deletion 4000 intergenic 0 LINK SSC 11642 affected 11642.p1 chr5:86381447-86395303 deletion 13857 Sanders 2015 intergenic 0 LINK SSC 14151 affected 14151.p1 chr5:97011101-97016200 deletion 5100 coding 1 LNPEP LINK AGRE AU3199202_AU3199201 affected AU3199301 chr5:112510204-112531303 deletion 21100 intergenic 0 LINK AGRE AU1757202_AU1757201 affected AU1757302 chr5:119059006-119115805 deletion 56800 coding 1 DMXL1 LINK SSC 12373 unaffected 12373.s1 chr5:120588071-120672600 deletion 84530 Sanders 2015 peripheral 1 PRR16 LINK AGRE AU3143202_AU3143201 affected AU3143304 chr5:134600911-134728410 deletion 127500 coding 2 "SAR1B,SEC24A" LINK SSC 14478 affected 14478.p1 chr5:138101001-138808800 duplication 707800 Sanders 2015 coding 13 "BRD8,CDC23,CDC25C,CTNNA1,EGR1,ETF1,FAM53C,GFRA3,HSPA9,KDM3B,KIF20A,NME5,REEP2" LINK SSC 13773 unaffected 13773.s1 chr5:149654201-149656800 deletion 2600 intergenic 0 LINK SSC 13307 unaffected 13307.s1 chr5:178602222-178612400 duplication 10179 coding 1 CLK4 LINK SSC 14016 unaffected 14016.s1 chr6:1744903-2450672 duplication 697200 Sanders 2015 coding 1 GMDS LINK SSC 13210 affected 13210.p1 chr6:34607301-34800800 duplication 193500 coding 3 "C6orf106,SNRPC,UHRF1BP1" LINK AGRE AU3646202_AU3646201 affected AU3646302 chr6:35915827-35974019 deletion 43289 coding 2 "SLC26A8,SRPK1" LINK AGRE AU3646202_AU3646201 affected AU3646301 chr6:35916353-35973530 deletion 42274 coding 2 "SLC26A8,SRPK1" LINK SSC 14514 affected 14514.p1 chr6:67114901-67122500 deletion 7600 intergenic 0 LINK SSC 13753 affected 13753.p1 chr6:67141701-67147600 deletion 5900 intergenic 0 LINK SSC 14404 affected 14404.p1 chr6:73390797-73398500 deletion 7704 coding 1 DDX43 LINK AGRE AU1988202_AU1988201 affected AU1988302 chr6:73688578-73696777 deletion 8200 coding 1 CD109 LINK SSC 12775 affected 12775.p1 chr6:76977858-76986825 deletion 8968 intergenic 0 LINK SSC 14127 affected 14127.p1 chr6:83647501-83650700 duplication 3200 inter-coding_intronic 1 SNAP91 LINK AGRE AU1756202_AU1756201 affected AU1756303 chr6:110666098-110668997 deletion 2900 coding 1 CDK19 LINK SSC 14467 unaffected 14467.s1 chr6:110879219-111020192 duplication 140974 coding 3 "AMD1,GTF3C6,RPF2" LINK AGRE AU1756202_AU1756201 affected AU1756302 chr6:118380438-118386037 deletion 5600 intergenic 0 LINK SSC 12610 affected 12610.p1 chr6:137801001-137803000 deletion 2000 intergenic 0 LINK SSC 13478 affected 13478.p1 chr6:140863801-140980500 duplication 116700 Sanders 2015 intergenic 0 LINK SSC 14533 unaffected 14533.s1 chr6:155146501-155157200 deletion 10700 coding 1 TIAM2 LINK SSC 14609 affected 14609.p1 chr6:156330186-157547584 deletion 1217399 Sanders 2015 coding 3 "ARID1B,TMEM242,ZDHHC14" LINK SSC 13928 affected 13928.p1 chr6:157178001-157192200 deletion 14200 coding 1 ARID1B LINK SSC 13886 unaffected 13886.s1 chr7:1055901-1062000 deletion 6100 coding 1 GPR146 LINK SSC 14189 affected 14189.p1 chr7:1196801-1300477 duplication 103677 coding 1 UNCX LINK SSC 11031 unaffected 11031.s1 chr7:6898224-6950135 deletion 51912 intergenic 0 LINK SSC 14240 affected 14240.p1 chr7:8738001-8796830 deletion 58830 Sanders 2015 coding 1 NXPH1 LINK SSC 13875 unaffected 13875.s1 chr7:11722601-11885600 deletion 163000 Sanders 2015 coding 1 THSD7A LINK AGRE AU1542202_AU1542201 affected AU1542304 chr7:38340300-38343699 deletion 3400 noncoding 1 TRG-AS1 LINK SSC 12394 affected 12394.p1 chr7:39058001-39061000 deletion 3000 inter-coding_intronic 1 POU6F2 LINK SSC 11868 affected 11868.p1 chr7:67457001-67618800 duplication 161800 intergenic 0 LINK SSC 12313 unaffected 12313.s1 chr7:68825901-68829400 deletion 3500 intergenic 0 LINK SSC 12821 affected 12821.p1 chr7:70070701-70143300 deletion 72600 coding 1 AUTS2 LINK SSC 12955 affected 12955.p1 chr7:73240499-74739238 duplication 1489525 Sanders 2015 coding 25 "ABHD11,BAZ1B,BCL7B,BUD23,CLDN3,CLDN4,CLIP2,DNAJC30,EIF4H,ELN,FKBP6,FZD9,GTF2I,GTF2IRD1,LAT2,LIMK1,METTL27,MLXIPL,NSUN5,RFC2,STX1A,TBL2,TMEM270,TRIM50,VPS37D" LINK SSC 11154 affected 11154.p1 chr7:73240499-74746293 duplication 1505795 Sanders 2015 coding 25 "ABHD11,BAZ1B,BCL7B,BUD23,CLDN3,CLDN4,CLIP2,DNAJC30,EIF4H,ELN,FKBP6,FZD9,GTF2I,GTF2IRD1,LAT2,LIMK1,METTL27,MLXIPL,NSUN5,RFC2,STX1A,TBL2,TMEM270,TRIM50,VPS37D" LINK SSC 12134 affected 12134.p1 chr7:74531101-75149500 duplication 358124 Sanders 2015 coding 7 "CASTOR2,GTF2I,GTF2IRD1,GTF2IRD2,GTF2IRD2B,NCF1,RCC1L" LINK SSC 11676 affected 11676.p1 chr7:75427201-75430900 deletion 3700 inter-coding_intronic 1 POM121C LINK SSC 14604 affected 14604.p1 chr7:90362501-90367400 deletion 4900 inter-coding_intronic 1 GTPBP10 LINK AGRE AU1802202_AU1802201 affected AU1802302 chr7:94956789-94960688 deletion 3900 inter-coding_intronic 1 PPP1R9A LINK SSC 13034 affected 13034.p1 chr7:95155101-95161000 deletion 5900 inter-coding_intronic 1 PPP1R9A LINK SSC 14224 unaffected 14224.s1 chr7:119798901-119832100 deletion 33200 Sanders 2015 noncoding 1 LINC02476 LINK AGRE AU3779202_AU3779201 affected AU3779304 chr7:142631185-142633884 deletion 2700 intergenic 0 LINK SSC 14478 unaffected 14478.s1 chr7:142686101-142690200 deletion 4100 intergenic 0 LINK SSC 12152 unaffected 12152.s1 chr7:143928301-143931900 deletion 3600 intergenic 0 LINK AGRE AU1033202_AU1033201 affected AU1033301 chr7:146417009-146419608 duplication 2600 inter-coding_intronic 1 CNTNAP2 LINK AGRE AU1891202_AU1891201 affected AU1891301 chr7:152065116-152348142 duplication 283027 coding 2 "GALNT11,KMT2C" LINK SSC 11225 affected 11225.p1 chr8:4121001-4505800 deletion 384800 Sanders 2015 coding 1 CSMD1 LINK SSC 13263 unaffected 13263.s1 chr8:5623601-5948464 deletion 324864 Sanders 2015 intergenic 0 LINK AGRE AU3127202_AU3127201 affected AU3127302 chr8:10523091-10669211 deletion 146121 coding 2 "PRSS55,RP1L1" LINK SSC 13812 unaffected 13812.s1 chr8:11895501-11899300 deletion 3800 intergenic 0 LINK SSC 14694 unaffected 14694.s1 chr8:16193454-16218525 deletion 25072 Sanders 2015 intergenic 0 LINK SSC 13484 unaffected 13484.s1 chr8:28412497-28422399 deletion 9903 intergenic 0 LINK SSC 12972 affected 12972.p1 chr8:30672701-30676700 deletion 4000 intergenic 0 LINK SSC 11304 affected 11304.p1 chr8:34339901-34345300 deletion 5400 intergenic 0 LINK AGRE AU035001_AU035002 affected AU035004 chr8:46772558-47729530 duplication 809073 coding 1 SPIDR LINK SSC 11445 affected 11445.p1 chr8:83793001-83802400 deletion 9400 intergenic 0 LINK SSC 12680 affected 12680.p1 chr8:88538627-88569152 duplication 14328 intergenic 0 LINK AGRE AU2777202_AU2777201 affected AU2777302 chr8:89339372-89371471 duplication 32100 intergenic 0 LINK SSC 14465 unaffected 14465.s1 chr8:113259301-113262900 duplication 3600 inter-coding_intronic 1 CSMD3 LINK SSC 13215 unaffected 13215.s1 chr8:117248501-117250600 deletion 2100 intergenic 0 LINK AGRE AU2885202_AU2885201 affected AU2885301 chr8:119831761-119835060 deletion 3300 coding 2 "DSCC1,TAF2" LINK SSC 14661 affected 14661.p1 chr8:121430001-121439399 deletion 9399 intergenic 0 LINK AGRE AU2063202_AU2063201 affected AU2063307 chr8:122367662-122396983 deletion 29322 intergenic 0 LINK SSC 14558 affected 14558.p1 chr8:129992401-129996300 deletion 3900 peripheral 1 FAM49B LINK SSC 12871 unaffected 12871.s1 chr8:135669041-135912099 duplication 243059 Sanders 2015 intergenic 0 LINK SSC 14185 unaffected 14185.s1 chr8:142739201-142943411 duplication 204211 Sanders 2015 coding 9 "CYP11B1,CYP11B2,GML,LY6D,LYNX1,LYNX1-SLURP2,LYPD2,SLURP1,SLURP2" LINK SSC 11258 affected 11258.p1 chr8:144403601-144417100 duplication 13500 coding 2 "CPSF1,SLC39A4" LINK SSC 14505 unaffected 14505.s1 chr9:727020-1345486 duplication 618467 Sanders 2015 coding 4 "DMRT1,DMRT2,DMRT3,KANK1" LINK SSC 11922 affected 11922.p1 chr9:3208401-3212100 deletion 3700 intergenic 0 LINK SSC 11348 affected 11348.p1 chr9:13306701-13316760 deletion 10060 Sanders 2015 intergenic 0 LINK SSC 14606 unaffected 14606.s1 chr9:19116201-19152500 duplication 36300 coding 1 PLIN2 LINK AGRE AU1842202_AU1842201 affected AU1842303 chr9:26421748-26427802 deletion 6055 intergenic 0 LINK SSC 14254 affected 14254.p1 chr9:69237901-74105500 deletion 4867600 Sanders 2015 coding 18 "ABHD17B,ALDH1A1,ANXA1,APBA1,C9orf135,C9orf57,C9orf85,CEMIP2,FAM189A2,GDA,KLF9,MAMDC2,PTAR1,SMC5,TJP2,TMC1,TRPM3,ZFAND5" LINK SSC 13601 unaffected 13601.s1 chr9:95973300-96002719 deletion 29420 coding 1 ERCC6L2 LINK SSC 12420 unaffected 12420.s1 chr9:98623901-98626300 deletion 2400 inter-coding_intronic 1 GABBR2 LINK SSC 11262 affected 11262.p1 chr9:106931801-106937768 deletion 5968 coding 1 ZNF462 LINK SSC 13632 affected 13632.p1 chr9:122883901-122894151 deletion 10251 coding 1 RC3H2 LINK SSC 12235 affected 12235.p1 chr9:128105349-128709200 duplication 603852 Sanders 2015 coding 19 "C9orf16,CERCAM,CIZ1,COQ4,DNM1,GLE1,GOLGA2,LCN2,ODF2,PKN3,PTGES2,SET,SLC25A25,SLC27A4,SPTAN1,SWI5,TRUB2,URM1,WDR34" LINK SSC 12100 unaffected 12100.s1 chr9:130650001-130655300 duplication 5300 intergenic 0 LINK SSC 12370 affected 12370.p1 chr9:131903401-132064700 duplication 161300 Sanders 2015 coding 1 MED27 LINK SSC 12153 unaffected 12153.s1 chr9:136957901-136961400 deletion 3500 intergenic 0 LINK SSC 12581 affected 12581.p1 chr9:137440201-137448697 duplication 8497 peripheral 2 "ENTPD8,NSMF" LINK SSC 12581 affected 12581.p1 chr9:137785801-138185500 deletion 399700 Sanders 2015 coding 2 "CACNA1B,EHMT1" LINK SSC 13070 affected 13070.p1 chr10:485401-686700 duplication 201300 coding 2 "DIP2C,PRR26" LINK SSC 14572 unaffected 14572.s1 chr10:786601-1340200 duplication 553600 Sanders 2015 coding 6 "ADARB2,GTPBP4,IDI1,IDI2,LARP4B,WDR37" LINK SSC 14046 unaffected 14046.s1 chr10:13096001-13119300 deletion 23300 Sanders 2015 coding 1 OPTN LINK SSC 13862 affected 13862.p1 chr10:13913228-13941722 deletion 28495 Sanders 2015 inter-coding_intronic 1 FRMD4A LINK SSC 14211 unaffected 14211.s1 chr10:15248101-20441864 deletion 5193764 Sanders 2015 coding 20 "ARL5B,C1QL3,CACNB2,CUBN,FAM171A1,HACD1,ITGA8,MALRD1,MINDY3,MRC1,NSUN6,PLXDC2,PTER,RSU1,SLC39A12,ST8SIA6,STAM,TMEM236,TRDMT1,VIM" LINK AGRE AU1664202_AU1664201 affected AU1664302 chr10:21789772-21819227 duplication 29456 coding 1 DNAJC1 LINK SSC 14610 affected 14610.p1 chr10:21883601-21930534 duplication 46934 coding 1 DNAJC1 LINK SSC 14179 unaffected 14179.s1 chr10:34540280-34605941 duplication 65662 inter-coding_intronic 1 PARD3 LINK SSC 12481 unaffected 12481.s1 chr10:38792201-38802000 deletion 9800 intergenic 0 LINK SSC 13842 affected 13842.p1 chr10:45305001-45308900 deletion 3900 peripheral 1 OR13A1 LINK SSC 12523 unaffected 12523.s1 chr10:45345501-45674700 duplication 329200 coding 3 "ALOX5,MARCH8,ZFAND4" LINK AGRE AU032901_AU032902 affected AU032903 chr10:49643277-60065041 duplication 10197235 Leppa 2016 coding 29 "A1CF,AGAP6,ANK3,ASAH2,ASAH2B,BICC1,C10orf53,CCDC6,CHAT,CISD1,CSTF2T,DKK1,FAM13C,IPMK,MBL2,MRLN,MTRNR2L5,OGDHL,PARG,PCDH15,PHYHIPL,PRKG1,SGMS1,SLC16A9,TFAM,TIMM23B,UBE2D1,WASHC2A,ZWINT" LINK SSC 12631 unaffected 12631.s1 chr10:66315101-66518394 deletion 203294 Sanders 2015 coding 1 CTNNA3 LINK SSC 13505 affected 13505.p1 chr10:75436201-75438200 deletion 2000 inter-coding_intronic 1 LRMDA LINK SSC 12735 affected 12735.p1 chr10:76525601-76529600 deletion 4000 inter-coding_intronic 1 LRMDA LINK SSC 13812 unaffected 13812.s1 chr10:80974542-81010579 deletion 33768 Sanders 2015 intergenic 0 LINK AGRE AU1296202_AU1296201 affected AU1296302 chr10:84525645-84531044 deletion 5400 intergenic 0 LINK AGRE AU1196202_AU1196201 affected AU1196302 chr10:98639644-99173088 duplication 533445 Leppa 2016 coding 1 HPSE2 LINK AGRE AU2007202_AU2007201 affected AU2007302 chr10:105026543-105029442 deletion 2900 inter-coding_intronic 1 SORCS3 LINK SSC 13903 unaffected 13903.s1 chr10:105690501-105693000 deletion 2500 noncoding 1 LOC101927549 LINK SSC 14616 affected 14616.p1 chr10:112613901-113475629 deletion 861729 Sanders 2015 coding 2 "TCF7L2,VTI1A" LINK SSC 11718 affected 11718.p1 chr10:118991427-119221337 duplication 229911 Sanders 2015 coding 6 "EIF3A,FAM45A,GRK5,NANOS1,PRDX3,SFXN4" LINK SSC 14590 unaffected 14590.s1 chr10:125085401-125087700 deletion 2300 peripheral 1 CTBP2 LINK SSC 14247 unaffected 14247.s1 chr11:191279-283451 duplication 92173 Sanders 2015 coding 7 "BET1L,NLRP6,ODF3,PSMD13,RIC8A,SCGB1C1,SIRT3" LINK SSC 14467 affected 14467.p1 chr11:18358967-18365366 deletion 6400 Sanders 2015 coding 1 GTF2H1 LINK SSC 14695 unaffected 14695.s1 chr11:34118419-34138507 deletion 20089 coding 1 NAT10 LINK SSC 13148 affected 13148.p1 chr11:38992901-39004900 duplication 12000 intergenic 0 LINK SSC 14270 affected 14270.p1 chr11:45926701-47081700 deletion 1155000 Sanders 2015 coding 15 "AMBRA1,ARHGAP1,ATG13,C11orf49,CHRM4,CKAP5,CREB3L1,DGKZ,F2,HARBI1,LARGE2,LRP4,MDK,PHF21A,ZNF408" LINK AGRE AU2004202_AU2004203 affected AU2004303 chr11:46609851-46615250 deletion 5400 inter-coding_intronic 1 HARBI1 LINK AGRE AU0412202_AU0412201 affected AU0412303 chr11:50405430-50448680 duplication 43251 noncoding 1 LOC646813 LINK SSC 11685 unaffected 11685.s1 chr11:69286301-69344800 deletion 58500 coding 1 MYEOV LINK SSC 12100 affected 12100.p1 chr11:72324501-72334700 deletion 10200 coding 1 CLPB LINK SSC 13611 unaffected 13611.s1 chr11:99527001-99643400 deletion 116400 Sanders 2015 coding 1 CNTN5 LINK AGRE AU1098202_AU1098201 affected AU1098303 chr11:102002649-102007469 deletion 4821 intergenic 0 LINK SSC 12975 affected 12975.p1 chr11:121392801-123018200 deletion 1625400 Sanders 2015 coding 6 "BLID,BSX,CRTAM,JHY,SORL1,UBASH3B" LINK SSC 14681 unaffected 14681.s1 chr11:122438501-122516951 duplication 78451 Sanders 2015 intergenic 0 LINK SSC 14508 unaffected 14508.s1 chr11:132724001-132728400 deletion 4400 inter-coding_intronic 1 OPCML LINK AGRE AU4056202_AU4056201 affected AU4056301 chr12:81935-146234 deletion 64300 coding 1 IQSEC3 LINK SSC 11714 affected 11714.p1 chr12:3548101-3556237 deletion 8137 Sanders 2015 coding 1 PRMT8 LINK SSC 14473 unaffected 14473.s1 chr12:5962701-5988945 duplication 26245 Sanders 2015 coding 1 VWF LINK SSC 14473 unaffected 14473.s1 chr12:6021101-6113300 deletion 92200 Sanders 2015 coding 1 VWF LINK SSC 13608 affected 13608.p1 chr12:7822601-7839300 duplication 16700 coding 1 SLC2A14 LINK SSC 13694 affected 13694.p1 chr12:25274272-25289145 deletion 14874 Sanders 2015 intergenic 0 LINK SSC 14552 affected 14552.p1 chr12:42099401-42580400 duplication 481000 Sanders 2015 coding 5 "GXYLT1,PPHLN1,PRICKLE1,YAF2,ZCRB1" LINK SSC 13146 affected 13146.p1 chr12:76950001-76953500 deletion 3500 intergenic 0 LINK SSC 14030 unaffected 14030.s1 chr12:85342101-85344400 duplication 2300 intergenic 0 LINK SSC 11963 affected 11963.p1 chr12:96828040-96841343 duplication 13304 coding 1 CFAP54 LINK SSC 14560 unaffected 14560.s1 chr12:99719201-99750000 deletion 30800 inter-coding_intronic 1 ANKS1B LINK SSC 11775 affected 11775.p1 chr12:104070701-104073000 duplication 2300 inter-coding_intronic 1 HCFC2 LINK SSC 11004 affected 11004.p1 chr12:122132001-122161200 deletion 29200 Sanders 2015 coding 1 MLXIP LINK AGRE AU2337202_AU2337201 affected AU2337303 chr12:130581256-131208555 duplication 627300 Leppa 2016 coding 3 "ADGRD1,RAN,STX2" LINK SSC 14181 unaffected 14181.s1 chr13:19905301-19981900 duplication 76600 coding 1 ZMYM2 LINK SSC 12821 unaffected 12821.s1 chr13:31548001-31555600 deletion 7600 intergenic 0 LINK SSC 11038 affected 11038.p1 chr13:31779601-31787600 deletion 8000 coding 1 RXFP2 LINK SSC 12343 affected 12343.p1 chr13:40523601-41343725 duplication 820125 Sanders 2015 coding 9 "ELF1,FOXO1,KBTBD6,KBTBD7,MRPS31,MTRF1,NAA16,SLC25A15,WBP4" LINK AGRE AU1894203_AU1894201 affected AU1894303 chr13:49602565-49606164 deletion 3600 intergenic 0 LINK SSC 11537 unaffected 11537.s1 chr13:60802801-60807900 deletion 5100 intergenic 0 LINK SSC 12550 unaffected 12550.s1 chr13:78154001-78158600 duplication 4600 noncoding 1 RNF219-AS1 LINK AGRE AU4089202_AU4089201 affected AU4089301 chr13:81527166-81558965 deletion 31800 intergenic 0 LINK AGRE AU2617202_AU2617201 affected AU2617302 chr13:87681446-87712166 deletion 30721 intergenic 0 LINK SSC 11472 unaffected 11472.s1 chr13:101584701-101627100 deletion 42400 Sanders 2015 coding 1 ITGBL1 LINK SSC 11380 affected 11380.p1 chr13:105111901-105162854 duplication 50954 Sanders 2015 intergenic 0 LINK SSC 13332 affected 13332.p1 chr13:107708201-107733800 deletion 25600 inter-coding_intronic 1 FAM155A LINK SSC 14432 unaffected 14432.s1 chr13:108869901-108872100 deletion 2200 inter-coding_intronic 1 MYO16 LINK SSC 12426 unaffected 12426.s1 chr14:39510801-39751400 deletion 240600 Sanders 2015 intergenic 0 LINK AGRE AU4235202_AU4235201 affected AU4235301 chr14:41119196-41123467 deletion 4272 noncoding 1 LINC02315 LINK SSC 14204 unaffected 14204.s1 chr14:41391101-41396900 deletion 5800 intergenic 0 LINK SSC 11788 unaffected 11788.s1 chr14:44605601-44619000 deletion 13400 intergenic 0 LINK AGRE AU1756202_AU1756201 affected AU1756301 chr14:54229883-54239504 deletion 9622 intergenic 0 LINK AGRE AU3369202_AU3369201 affected AU3369302 chr14:58204069-58210435 duplication 6367 coding 1 ACTR10 LINK SSC 14114 affected 14114.p1 chr14:65690063-65705900 deletion 15838 inter-coding_intronic 1 FUT8 LINK AGRE AU002801_AU002802 affected AU002804 chr14:70326984-70771483 duplication 444500 coding 8 "ADAM20,ADAM21,COX16,MAP3K9,MED6,SYNJ2BP,SYNJ2BP-COX16,TTC9" LINK AGRE AU1510202_AU1510201 affected AU1510303 chr14:96492355-96496263 deletion 3909 intergenic 0 LINK SSC 13907 affected 13907.p1 chr14:102595201-102599400 deletion 4200 inter-coding_intronic 1 RCOR1 LINK SSC 13589 affected 13589.p1 chr14:104392935-104505700 duplication 112766 Sanders 2015 intergenic 0 LINK SSC 14159 affected 14159.p1 chr15:23364101-28345675 duplication 4930794 Sanders 2015 coding 15 "ATP10A,GABRA5,GABRB3,GABRG3,GOLGA6L2,GOLGA8S,HERC2,MAGEL2,MKRN3,NDN,NPAP1,OCA2,SNRPN,SNURF,UBE3A" LINK AGRE AU1042202_AU1042201 affected AU1042303 chr15:23430715-28343827 duplication 4515445 Leppa 2016 coding 14 "ATP10A,GABRA5,GABRB3,GABRG3,GOLGA6L2,HERC2,MAGEL2,MKRN3,NDN,NPAP1,OCA2,SNRPN,SNURF,UBE3A" LINK AGRE AU4007202_AU4007201 affected AU4007301 chr15:23432884-28302029 duplication 4087383 Leppa 2016 coding 14 "ATP10A,GABRA5,GABRB3,GABRG3,GOLGA6L2,HERC2,MAGEL2,MKRN3,NDN,NPAP1,OCA2,SNRPN,SNURF,UBE3A" LINK AGRE AU013201_AU013202 affected AU013203 chr15:23565987-23719653 duplication 153667 coding 3 "MAGEL2,MKRN3,NDN" LINK AGRE AU013201_AU013202 affected AU013204 chr15:23566153-23719453 duplication 153301 coding 3 "MAGEL2,MKRN3,NDN" LINK SSC 13355 affected 13355.p1 chr15:26722901-27307300 duplication 584400 Sanders 2015 coding 3 "GABRA5,GABRB3,GABRG3" LINK SSC 14531 affected 14531.p1 chr15:28746501-30955500 duplication 520315 Sanders 2015 coding 16 "APBA2,ARHGAP11B,CHRFAM7A,FAM189A1,FAN1,GOLGA6L7,GOLGA8H,GOLGA8J,GOLGA8N,GOLGA8Q,GOLGA8R,GOLGA8T,LOC100996413,MTMR10,NSMCE3,TJP1" LINK SSC 11928 affected 11928.p1 chr15:30613901-32154735 duplication 1540835 Sanders 2015 coding 10 "ARHGAP11B,CHRNA7,FAN1,GOLGA8H,GOLGA8N,KLF13,LOC283710,MTMR10,OTUD7A,TRPM1" LINK AGRE AU2792202_AU2792201 affected AU2792302 chr15:33829939-33854024 deletion 24086 coding 1 RYR3 LINK SSC 14308 affected 14308.p1 chr15:53604701-53612476 deletion 7776 coding 1 WDR72 LINK SSC 13604 affected 13604.p1 chr15:53689101-53691900 deletion 2800 inter-coding_intronic 1 WDR72 LINK SSC 11233 affected 11233.p1 chr15:68807301-73859200 deletion 5051900 Sanders 2015 coding 34 "ADPGK,ANP32A,ARIH1,BBS4,CD276,CELF6,CT62,GLCE,GOLGA6B,GRAMD2A,HCN4,HEXA,HIGD2B,INSYN1,KIF23,LARP6,LRRC49,MYO9A,NEO1,NOX5,NPTN,NR2E3,PAQR5,PARP6,PKM,REC114,RPLP1,SENP8,SPESP1,THAP10,THSD4,TLE3,TMEM202,UACA" LINK AGRE AU1652202_AU1652201 affected AU1652301 chr15:74881560-74909392 duplication 27833 coding 2 "FAM219B,MPI" LINK SSC 13314 affected 13314.p1 chr15:92940901-92945600 deletion 4700 coding 1 CHD2 LINK AGRE AU1772202_AU1772201 affected AU1772301 chr15:93345472-93448771 deletion 103300 intergenic 0 LINK SSC 11042 unaffected 11042.s1 chr15:93755201-93797400 deletion 42200 Sanders 2015 intergenic 0 LINK AGRE AU1305202_AU1305201 affected AU1305303 chr15:94193172-94206260 deletion 13089 intergenic 0 LINK SSC 13465 affected 13465.p1 chr15:95927401-96080335 duplication 152935 Sanders 2015 intergenic 0 LINK SSC 14443 affected 14443.p1 chr15:98936210-99462439 duplication 526230 Sanders 2015 coding 5 "IGF1R,LRRC28,PGPEP1L,SYNM,TTC23" LINK SSC 11435 affected 11435.p1 chr16:32304-1264400 deletion 1232097 Sanders 2015 coding 55 "ARHGDIG,AXIN1,C1QTNF8,CACNA1H,CAPN15,CCDC78,CHTF18,CIAO3,DECR2,FAM173A,FAM234A,FBXL16,GNG13,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,JMJD8,LMF1,LUC7L,MCRIP2,METRN,METTL26,MPG,MRPL28,MSLN,NHLRC4,NME4,NPRL3,PDIA2,PIGQ,POLR3K,PRR25,PRR35,RAB11FIP3,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RPUSD1,SNRNP25,SOX8,SSTR5,STUB1,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,WDR24,WDR90,WFIKKN1" LINK AGRE AU010901_AU010902 affected AU010904 chr16:628401-654300 deletion 25900 coding 4 "MCRIP2,METTL26,WDR90,WFIKKN1" LINK SSC 14134 affected 14134.p1 chr16:2292001-2295900 deletion 3900 coding 1 ABCA3 LINK SSC 12984 affected 12984.p1 chr16:3424701-3455500 deletion 30800 Sanders 2015 coding 2 "NAA60,ZNF597" LINK SSC 11551 affected 11551.p1 chr16:8715232-9208187 duplication 492956 Sanders 2015 coding 6 "ABAT,C16orf72,CARHSP1,PMM2,TMEM186,USP7" LINK SSC 11168 affected 11168.p1 chr16:8806101-9152412 duplication 346312 Sanders 2015 coding 4 "C16orf72,CARHSP1,PMM2,USP7" LINK SSC 14638 affected 14638.p1 chr16:24714401-27418700 duplication 1168104 Sanders 2015 coding 12 "AQP8,ARHGAP17,C16orf82,HS3ST4,IL21R,IL4R,KDM8,LCMT1,NSMCE1,SLC5A11,TNRC6A,ZKSCAN2" LINK SSC 13416 affected 13416.p1 chr16:28743701-29052769 deletion 309069 Sanders 2015 coding 10 "ATP2A1,ATXN2L,CD19,LAT,NFATC2IP,NPIPB9,RABEP2,SH2B1,SPNS1,TUFM" LINK SSC 12435 affected 12435.p1 chr16:29523777-30189981 duplication 666205 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 12100 affected 12100.p1 chr16:29532431-30188900 deletion 656470 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 13335 affected 13335.p1 chr16:29536287-30189981 duplication 653695 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 14023 affected 14023.p1 chr16:29536287-30190504 duplication 654218 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 12451 affected 12451.p1 chr16:29545142-30188900 deletion 643759 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 11433 affected 11433.p1 chr16:29545142-30189981 deletion 644840 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 12308 affected 12308.p1 chr16:29545142-30189981 deletion 644840 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 11090 affected 11090.p1 chr16:29545142-30190504 deletion 645363 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 12647 affected 12647.p1 chr16:29545142-30191700 duplication 646559 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 11540 affected 11540.p1 chr16:29547579-30188800 deletion 641222 Sanders 2015 coding 28 "ALDOA,ASPHD1,C16orf54,C16orf92,CDIPT,CORO1A,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,KIF22,LOC112694756,MAPK3,MAZ,MVP,PAGR1,PPP4C,PRRT2,QPRT,SEZ6L2,SPN,TAOK2,TBX6,TMEM219,YPEL3,ZG16" LINK SSC 12643 unaffected 12643.s1 chr16:51934201-51943700 deletion 9500 intergenic 0 LINK SSC 11809 unaffected 11809.s1 chr16:61786101-61802698 duplication 16598 coding 1 CDH8 LINK SSC 13815 affected 13815.p1 chr16:76212301-76482200 deletion 269900 Sanders 2015 coding 1 CNTNAP4 LINK SSC 12383 affected 12383.p1 chr16:77909701-77998815 deletion 89115 Sanders 2015 coding 1 VAT1L LINK SSC 13993 affected 13993.p1 chr16:81031601-81210700 deletion 179100 Sanders 2015 coding 5 "ATMIN,C16orf46,CENPN,GCSH,PKD1L2" LINK SSC 11327 affected 11327.p1 chr16:81144501-86159600 deletion 5015100 Sanders 2015 coding 36 "ADAD2,ATP2C2,BCO1,C16orf74,CDH13,CMIP,COTL1,COX4I1,CRISPLD2,DNAAF1,EMC8,FAM92B,GAN,GINS2,GSE1,HSBP1,HSD17B2,HSDL1,IRF8,KCNG4,KIAA0513,KLHL36,MBTPS1,MEAK7,MLYCD,MPHOSPH6,NECAB2,OSGIN1,PKD1L2,PLCG2,SDR42E1,SLC38A8,TAF1C,USP10,WFDC1,ZDHHC7" LINK SSC 14475 affected 14475.p1 chr16:83127201-83203200 deletion 76000 Sanders 2015 coding 1 CDH13 LINK AGRE AU1072202_AU1072201 affected AU1072303 chr16:83921996-84092002 deletion 170007 coding 4 "MBTPS1,NECAB2,OSGIN1,SLC38A8" LINK SSC 12613 unaffected 12613.s1 chr16:84203001-84205400 deletion 2400 intergenic 0 LINK SSC 13874 unaffected 13874.s1 chr16:84413362-84495119 deletion 81758 Sanders 2015 coding 2 "ATP2C2,MEAK7" LINK SSC 14412 unaffected 14412.s1 chr16:89740401-89753952 duplication 13552 Sanders 2015 coding 1 FANCA LINK SSC 14226 affected 14226.p1 chr17:1064004-1709900 duplication 645897 Sanders 2015 coding 13 "ABR,BHLHA9,CRK,INPP5K,MYO1C,PITPNA,PRPF8,RILP,SCARF1,SLC43A2,TLCD2,TRARG1,YWHAE" LINK SSC 12243 affected 12243.p1 chr17:1612601-1620251 deletion 7651 coding 1 SLC43A2 LINK SSC 13555 affected 13555.p1 chr17:14185901-15582900 deletion 1397000 Sanders 2015 coding 9 "CDRT1,CDRT15,CDRT4,COX10,HS3ST3B1,PMP22,TEKT3,TVP23C,TVP23C-CDRT4" LINK SSC 13561 affected 13561.p1 chr17:15964201-18070300 duplication 2106100 Sanders 2015 coding 28 "ADORA2B,ATPAF2,CCDC144A,CENPV,COPS3,DRC3,FAM106CP,FLCN,GID4,LRRC75A,MED9,MPRIP,NCOR1,NT5M,PEMT,PIGL,PLD6,RAI1,RASD1,SREBF1,TNFRSF13B,TOM1L2,TRPV2,TTC19,UBB,ZNF287,ZNF624,ZSWIM7" LINK AGRE AU3124202_AU3124201 affected AU3124301 chr17:28942264-28947657 deletion 5394 inter-coding_intronic 1 PHF12 LINK SSC 13133 affected 13133.p1 chr17:29677780-29689920 deletion 12141 coding 1 SSH2 LINK SSC 14459 affected 14459.p1 chr17:30621301-30873900 duplication 252600 Sanders 2015 coding 2 "ATAD5,CRLF3" LINK SSC 11353 affected 11353.p1 chr17:36375801-37905300 deletion 1529500 Sanders 2015 coding 22 "AATF,ACACA,C17orf78,DDX52,DHRS11,DUSP14,GGNBP2,HNF1B,LHX1,MRM1,MYO19,PIGW,SYNRG,TADA2A,TBC1D3D,TBC1D3F,TBC1D3G,TBC1D3H,TBC1D3I,TBC1D3J,TBC1D3K,ZNHIT3" LINK SSC 14643 affected 14643.p1 chr17:36441101-37900227 deletion 1459127 Sanders 2015 coding 20 "AATF,ACACA,C17orf78,DDX52,DHRS11,DUSP14,GGNBP2,HNF1B,LHX1,MRM1,MYO19,PIGW,SYNRG,TADA2A,TBC1D3D,TBC1D3G,TBC1D3H,TBC1D3I,TBC1D3J,ZNHIT3" LINK AGRE AU1355202_AU1355201 affected AU1355301 chr17:41725949-43439532 duplication 1634700 Leppa 2016 coding 61 "AARSD1,ACLY,AOC2,AOC3,ARL4D,ATP6V0A1,BECN1,BRCA1,C17orf113,CAVIN1,CCDC200,CCR10,CNP,CNTD1,CNTNAP1,COA3,COASY,DHX58,DNAJC7,EZH1,FKBP10,G6PC,GHDC,HAP1,HCRT,HSD17B1,HSPB9,IFI35,JUP,KAT2A,KCNH4,KLHL10,KLHL11,MLX,NAGLU,NBR1,NKIRAS2,NT5C3B,P3H4,PLEKHH3,PSMC3IP,PSME3,PTGES3L,PTGES3L-AARSD1,RAB5C,RAMP2,RETREG3,RND2,RPL27,RUNDC1,STAT3,STAT5A,STAT5B,TMEM106A,TTC25,TUBG1,TUBG2,VAT1,VPS25,WNK4,ZNF385C" LINK SSC 12221 affected 12221.p1 chr17:43121544-43128023 duplication 6480 coding 1 BRCA1 LINK SSC 12221 unaffected 12221.s1 chr17:43121544-43128023 duplication 6480 coding 1 BRCA1 LINK SSC 11982 affected 11982.p1 chr17:46703246-47019504 duplication 316259 Sanders 2015 coding 5 "GOSR2,NSF,RPRML,WNT3,WNT9B" LINK SSC 12117 unaffected 12117.s1 chr17:60013101-62264865 duplication 2251765 Sanders 2015 coding 14 "APPBP2,BCAS3,BRIP1,C17orf64,C17orf82,CA4,HEATR6,INTS2,MED13,NACA2,PPM1D,TBX2,TBX4,USP32" LINK SSC 14084 affected 14084.p1 chr17:75440378-76582968 deletion 1139518 Sanders 2015 coding 39 "AANAT,ACOX1,CASKIN2,CDK3,CYGB,EVPL,EXOC7,FBF1,FOXJ1,GALK1,GALR2,H3F3B,ITGB4,LLGL2,MRPL38,MYO15B,PRCD,PRPSAP1,QRICH2,RECQL5,RHBDF2,RNF157,SAP30BP,SMIM5,SMIM6,SPHK1,SRP68,ST6GALNAC2,TEN1,TMEM94,TRIM47,TRIM65,TSEN54,UBALD2,UBE2O,UNC13D,UNK,WBP2,ZACN" LINK SSC 13162 affected 13162.p1 chr18:28930801-28933700 deletion 2900 intergenic 0 LINK SSC 12585 unaffected 12585.s1 chr18:34594101-34600300 deletion 6200 peripheral 1 DTNA LINK SSC 13972 unaffected 13972.s1 chr18:38755701-38758500 deletion 2800 intergenic 0 LINK SSC 13547 affected 13547.p1 chr18:76567079-76573734 deletion 6656 intergenic 0 LINK SSC 12295 unaffected 12295.s1 chr19:609155-927182 duplication 318028 Sanders 2015 coding 17 "AZU1,CFD,ELANE,FGF22,FSTL3,HCN2,KISS1R,MED16,MISP,PALM,PLPPR3,POLRMT,PRSS57,PRTN3,PTBP1,R3HDM4,RNF126" LINK SSC 14601 unaffected 14601.s1 chr19:2875201-2918800 deletion 43600 Sanders 2015 coding 2 "ZNF556,ZNF57" LINK AGRE AU1178202_AU1178201 affected AU1178302 chr19:7919616-7925515 deletion 5900 coding 2 "CTXN1,SNAPC2" LINK SSC 13018 affected 13018.p1 chr19:14938612-15781333 duplication 842722 Sanders 2015 coding 21 "AKAP8,AKAP8L,BRD4,CASP14,CCDC105,CYP4F12,CYP4F22,CYP4F3,CYP4F8,EPHX3,ILVBL,NOTCH3,OR10H2,OR10H3,OR1I1,OR7C2,PGLYRP2,RASAL3,SLC1A6,SYDE1,WIZ" LINK SSC 14313 affected 14313.p1 chr19:17925201-17928200 duplication 3000 intergenic 0 LINK SSC 14662 unaffected 14662.s1 chr19:34171301-34176100 deletion 4800 coding 1 LSM14A LINK SSC 13335 affected 13335.p1 chr19:37138752-37144828 deletion 6077 intergenic 0 LINK SSC 11193 unaffected 11193.s1 chr19:37425301-37464344 deletion 39044 Sanders 2015 coding 1 ZNF569 LINK SSC 12076 affected 12076.p1 chr19:38673801-38677300 deletion 3500 inter-coding_intronic 1 ACTN4 LINK AGRE AU3175202_AU3175201 affected AU3175303 chr19:44378642-44452414 duplication 73800 coding 2 "ZNF229,ZNF285" LINK SSC 13874 affected 13874.p1 chr19:47132506-47184135 duplication 49477 coding 1 SAE1 LINK SSC 14668 unaffected 14668.s1 chr19:47151001-47154000 deletion 3000 coding 1 SAE1 LINK SSC 13306 unaffected 13306.s1 chr19:48820101-48846600 duplication 26500 coding 2 "HSD17B14,PLEKHA4" LINK SSC 11441 unaffected 11441.s1 chr19:49719682-49737792 deletion 18111 intergenic 0 LINK SSC 11986 unaffected 11986.s1 chr19:50909701-50915300 deletion 5600 coding 1 KLK4 LINK AGRE AU3175202_AU3175201 affected AU3175303 chr19:52958348-53197247 deletion 238900 coding 6 "ERVV-1,ERVV-2,ZNF160,ZNF347,ZNF415,ZNF665" LINK SSC 14513 affected 14513.p1 chr19:54964236-57146715 duplication 2182480 Sanders 2015 coding 68 "BRSK1,CCDC106,COX6B2,DNAAF3,EDDM13,EPN1,EPS8L1,FAM71E2,FIZ1,GALP,GP6,HSPBP1,IL11,ISOC2,KMT5C,NAT14,NLRP11,NLRP13,NLRP2,NLRP4,NLRP5,NLRP8,NLRP9,PEG3,PPP1R12C,PPP6R1,PTPRH,RDH13,RFPL4A,RFPL4AL1,RPL28,SBK2,SBK3,SHISA7,SMIM17,SSC5D,SYT5,TMEM150B,TMEM190,TMEM238,TMEM86B,TNNI3,TNNT1,U2AF2,UBE2S,USP29,ZFP28,ZIM2,ZIM3,ZNF444,ZNF470,ZNF471,ZNF524,ZNF579,ZNF580,ZNF581,ZNF582,ZNF583,ZNF628,ZNF667,ZNF71,ZNF784,ZNF787,ZNF835,ZNF865,ZSCAN5A,ZSCAN5B,ZSCAN5C" LINK SSC 14459 affected 14459.p1 chr19:55020752-55045900 duplication 25149 Sanders 2015 coding 2 "GP6,RDH13" LINK SSC 13177 affected 13177.p1 chr20:494101-497100 deletion 3000 coding 1 CSNK2A1 LINK AGRE AU0976202_AU0976201 affected AU0976301 chr20:871058-873957 deletion 2900 coding 1 ANGPT4 LINK AGRE AU1667101_AU1667102 affected AU1667201 chr20:2490455-2495554 deletion 5100 coding 1 ZNF343 LINK AGRE AU2458202_AU2458201 affected AU2458302 chr20:14893755-14954254 deletion 60500 inter-coding_intronic 1 MACROD2 LINK SSC 13023 unaffected 13023.s1 chr20:18293321-18304651 duplication 11331 coding 1 ZNF133 LINK SSC 13023 affected 13023.p1 chr20:18321136-18329677 duplication 8542 intergenic 0 LINK SSC 13903 unaffected 13903.s1 chr20:25935173-25974376 deletion 39204 noncoding 1 LINC01733 LINK SSC 14661 affected 14661.p1 chr20:44226501-44230500 duplication 4000 intergenic 0 LINK SSC 14661 unaffected 14661.s1 chr20:44226601-44230500 duplication 3900 intergenic 0 LINK SSC 14070 unaffected 14070.s1 chr20:46410001-46412700 deletion 2700 noncoding 1 LOC105372633 LINK SSC 14207 affected 14207.p1 chr20:60194583-60206931 duplication 12349 noncoding 1 MIR646HG LINK SSC 13842 affected 13842.p1 chr20:62003601-62010374 deletion 6774 coding 1 TAF4 LINK SSC 13048 unaffected 13048.s1 chr21:20815001-20822700 deletion 7700 intergenic 0 LINK SSC 12618 affected 12618.p1 chr21:35237801-35245100 deletion 7300 intergenic 0 LINK SSC 13626 affected 13626.p1 chr21:40073901-40085400 deletion 11500 coding 1 DSCAM LINK SSC 13328 affected 13328.p1 chr22:17927001-17929600 deletion 2600 peripheral 1 MICAL3 LINK SSC 13859 affected 13859.p1 chr22:18943389-20689097 deletion 1745709 Sanders 2015 coding 32 "ARVCF,C22orf39,CCDC188,CDC45,CLDN5,CLTCL1,COMT,DGCR2,DGCR6L,DGCR8,ESS2,GNB1L,GP1BB,GSC2,HIRA,KLHL22,MED15,MRPL40,RANBP1,RTL10,RTN4R,SCARF2,SEPT5,SLC25A1,TANGO2,TBX1,TRMT2A,TSSK2,TXNRD2,UFD1,ZDHHC8,ZNF74" LINK SSC 14330 affected 14330.p1 chr22:18943761-21112032 duplication 2168272 Sanders 2015 coding 42 "AIFM3,ARVCF,C22orf39,CCDC188,CDC45,CLDN5,CLTCL1,COMT,CRKL,DGCR2,DGCR6L,DGCR8,ESS2,GNB1L,GP1BB,GSC2,HIRA,KLHL22,LRRC74B,LZTR1,MED15,MRPL40,P2RX6,PI4KA,RANBP1,RTL10,RTN4R,SCARF2,SEPT5,SERPIND1,SLC25A1,SLC7A4,SNAP29,TANGO2,TBX1,THAP7,TRMT2A,TSSK2,TXNRD2,UFD1,ZDHHC8,ZNF74" LINK SSC 14468 unaffected 14468.s1 chr22:18945212-21114754 deletion 2169543 Sanders 2015 coding 42 "AIFM3,ARVCF,C22orf39,CCDC188,CDC45,CLDN5,CLTCL1,COMT,CRKL,DGCR2,DGCR6L,DGCR8,ESS2,GNB1L,GP1BB,GSC2,HIRA,KLHL22,LRRC74B,LZTR1,MED15,MRPL40,P2RX6,PI4KA,RANBP1,RTL10,RTN4R,SCARF2,SEPT5,SERPIND1,SLC25A1,SLC7A4,SNAP29,TANGO2,TBX1,THAP7,TRMT2A,TSSK2,TXNRD2,UFD1,ZDHHC8,ZNF74" LINK SSC 11236 unaffected 11236.s1 chr22:28312101-28321700 deletion 9600 inter-coding_intronic 1 TTC28 LINK SSC 13496 unaffected 13496.s1 chr22:29206101-29220210 duplication 14110 coding 1 EMID1 LINK SSC 12224 affected 12224.p1 chr22:40099401-40374600 deletion 275200 Sanders 2015 coding 2 "ADSL,TNRC6B" LINK SSC 12618 unaffected 12618.s1 chr22:40836501-40842800 deletion 6300 coding 1 ST13 LINK SSC 11099 unaffected 11099.s1 chr22:44456201-44460200 deletion 4000 intergenic 0 LINK SSC 13620 affected 13620.p1 chr22:44482101-44484300 deletion 2200 intergenic 0 LINK SSC 14232 affected 14232.p1 chr22:47793301-50800000 deletion 3006700 Sanders 2015 coding 38 "ACR,ADM2,ALG12,ARSA,BRD1,C22orf34,CHKB,CPT1B,CRELD2,DENND6B,FAM19A5,HDAC10,IL17REL,KLHDC7B,LMF2,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,RABL2B,SBF1,SCO2,SELENOO,SHANK3,SYCE3,TRABD,TTLL8,TUBGCP6,TYMP,ZBED4" LINK AGRE AU1773202_AU1773201 affected AU1773302 chr22:50683762-50801529 deletion 117768 coding 3 "ACR,RABL2B,SHANK3"