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CI-Outcome-Predictor
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Gene,Position (hg19) ,cDNA ,Protein ,Status (Known/ New) ,Allele count among probands ,Inheritance of hearing loss ,Transcript ID ,Age,Speech_score,Interpretation,success_label
GPSM2,chr1:109445857 ,c.1062+1G>T ,- ,Known ,2 ,AR ,NM_013296.5 ,3,0,neutral baseline,0
USH2A,chr1:215853720 ,c.12067-1A>G ,- ,Known ,1 ,AR ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
USH2A,chr1:215987118 ,c.9699delT ,p.H3234Ifs*67 ,New ,1 ,AD ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
USH2A,chr1:216420437 ,c.2299delG ,p.E767Sfs*21 ,Known ,1 ,AR ,NM_206933.4 ,3,0,Average (large inter-patient variance) ,0
USH2A,chr1:216498834 ,c.956G>A ,p.C319Y ,Known ,1 ,AR ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
USH2A,chr1:216498841 ,c.949C>A ,p.R317R ,Known ,1 ,AR ,NM_206933.4 ,2,0,Average (large inter-patient variance) ,0
KCNQ4,chr1:41285111 ,c.801_803delCTC ,p.S269delS ,Known ,1 ,AD ,NM_004700.4 ,2,0,neutral baseline,0
ESPN,chr1:6511719 ,c.1972G>A ,p.E658K ,New ,1 ,AR ,NM_031475.3 ,2,-0.2,Mild deficit ,0
ESPN,chr1:6520137 ,c.2496C>G ,P.Y832X ,New ,1 ,AR ,NM_031475.3 ,3,-0.2,Mild deficit ,0
OTOF,chr2:26683614 ,c.5714G>A ,p.G1905D ,New ,2 ,AR ,NM_194248.3 ,1,0.8,"Excellent CI outcomes (auditory neuropathy, preserved neural integrity)",1
OTOF,chr2:26688580 ,c.4759A>T ,p.K1587* ,New ,1 ,AR ,NM_194248.3 ,1,0.8,"Excellent CI outcomes (auditory neuropathy, preserved neural integrity)",1
OTOF,chr2:26700078 ,c.2485C>T ,p.Q829* ,Known ,1 ,AR ,NM_194248.3 ,1,0.8,"Excellent CI outcomes (auditory neuropathy, preserved neural integrity)",1
OTOF,chr2:26703070 ,c.1912+1G>C ,- ,New ,1 ,AR ,NM_194248.3 ,1,0.8,"Excellent CI outcomes (auditory neuropathy, preserved neural integrity)",1
OTOF,chr2:26717805 ,c.897+5G>C ,- ,New ,1 ,AR ,NM_194248.3 ,3,0.8,"Excellent CI outcomes (auditory neuropathy, preserved neural integrity)",1
MITF,chr3:69788586-70017488* ,Full gene deletion ,- ,na ,1 ,AD ,NM_001354604.2 ,1,-0.35,Variable (Waardenburg) ,0
MITF,chr3:69985911 ,c.355-1062G>C ,- ,Known ,1 ,AD ,NM_001354604.2 ,2,-0.35,Variable (Waardenburg) ,0
MITF,chr3:70008546 ,c.1136_1138delCAT ,p.N379del ,New ,1 ,AD ,NM_198159.2 ,1,-0.35,Variable (Waardenburg) ,0
MITF,chr3:70014048 ,c.1212G>A ,p.T404T ,New ,1 ,AD ,NM_198159.2 ,1,-0.35,Variable (Waardenburg) ,0
LHFPL5,chr4:43022411 ,c.668T>A ,p.L223Q ,New ,2 ,AR ,NM_001080476.3 ,2,-0.55,Below average ,0
ADGRV1,"chr5:90,118,339-90,119,245 ",Partial deletion ,- ,New ,2 ,AR ,NM_032119.4 ,1,0,Average (Usher 2) ,0
LHFPL5,chr5:140903734 ,c.3637C>T ,p.R1213* ,Known ,1 ,AD ,NM_005219.5 ,2,-0.5,Below average ,0
EYA4,chr6:133802621 ,c.991dupG ,p.S331Kfs*10 ,New ,1 ,AD ,NM_004100.5 ,1,-0.45,"Progressive type DFNA10, modest ",0
COL11A2,chr6:33136731 ,c.3852+1G>T ,- ,New ,1 ,AD ,NM_080680.3 ,2,-0.4,"Structural anomaly, modest outcomes ",0
LHFPL5,chr6:76538256 ,c.188-1G>T ,- ,New ,1 ,AD ,NM_004999.4 ,2,-0.5,Below average ,0
LHFPL5,chr6:76551016 ,c.737A>G ,p.H246R ,Known ,2 ,AD ,NM_004999.4 ,2,-0.5,Below average ,0
LHFPL5,chr6:76580403 ,c.1983+1G>A ,- ,Known ,1 ,AD ,NM_004999.4 ,1,-0.5,Below average ,0
SLC26A4,chr7:107302082 ,c.-3-2A>G ,- ,Known ,3 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107303305 ,c.165-436G>A ,- ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107303740 ,c.165-1G>A ,- ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107303746 ,c.170C>A ,p.S57X ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107303779 ,c.203T>C ,p.L68P ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107312690 ,c.412G>T ,p.V138F ,Known ,2 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107312700 ,c.415+7A>G ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107315415 ,c.626G>T ,p.G209V ,Known ,2 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107315496 ,c.707T>C ,p.L236P ,Known ,4 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107323898 ,c.919-2A>G ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107323983 ,c.1001+1G>A ,- ,Known ,3 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107330570 ,c.1151A>G ,p.E384G ,Known ,2 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107330645 ,c.1226G>A ,p.R409H ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107330648 ,c.1229C>T ,p.T410M ,Known ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107330665 ,c.1246A>C ,p.T416P ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107335062 ,c.1342-2_1343dupCAGT ,- ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107336429 ,c.1489G>A ,p.G497S ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107340591 ,c.1678G>A ,p.D560N ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107341555 ,c.1717G>C ,p.D573H ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107341568 ,c.1730T>G ,p.V577G ,New ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107342483 ,c.2015G>A ,p.G672E ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
SLC26A4,chr7:107356130 ,c.*239C>T ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
CHD7,chr8:61655471 ,c.1480C>T ,p.R494* ,Known ,1 ,AD ,NM_017780.4 ,2,-0.3,Syndromic; reduced benefit ,0
CHD7,chr8:61736569 ,c.3372_3373dupGA ,p.D1125Gfs*9 ,New ,1 ,AD ,NM_017780.4 ,3,-0.3,Syndromic; reduced benefit ,0
CHD7,chr8:61769091 ,c.7252C>T ,p.R2418* ,Known ,1 ,AD ,NM_017780.4 ,3,-0.3,Syndromic; reduced benefit ,0
MITF,chr10:102770435 ,c.2211delC ,p.Q737Hfs*16 ,Known ,1 ,AR ,NM_001195263.2 ,2,0,neutral baseline,0
MITF,chr10:102770557 ,c.2089delC ,p.A697Pfs*26 ,Known ,2 ,AR ,NM_001195263.2 ,1,0,neutral baseline,0
MITF,chr10:102780374 ,c.928+1G>A ,- ,Known ,1 ,AR ,NM_001195263.2 ,1,0,neutral baseline,0
MITF,chr10:123274644 ,c.1274G>A ,p.R425Q ,New ,1 ,AD ,NM_000141.5 ,3,0,neutral baseline,0
PCDH15,chr10:55568962 ,c.4858_4862dupGAGTT ,p.F1621Lfs*185 ,New ,2 ,AR ,NM_001142769.3 ,3,0.35,Mildly favorable ,1
PCDH15,chr10:55569149 ,c.4676delG ,p.R1559Kfs*3 ,Known ,1 ,AR ,NM_001142769.3 ,2,0.35,Mildly favorable ,1
PCDH15,chr10:55955570 ,c.1193C>T ,p.P398L ,New ,1 ,AR ,NM_001142769.3 ,3,0.35,Mildly favorable ,1
CDH23,chr10:73270920 ,c.380A>G ,p.D127G ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
CDH23,chr10:73466659 ,c.2959G>A ,p.D987N ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
CDH23,chr10:73550880 ,c.6050-9G>A ,- ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
CDH23,chr10:73553085 ,c.6402_6405delAGAG ,p.E2135Sfs*7 ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
CDH23,chr10:73553127 ,c.6442G>A ,p.D2148N ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
CDH23,chr10:73553218 ,c.6533T>A ,p.I2178N ,Known ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
CDH23,chr10:73558214 ,c.6933delT ,p.T2313Pfs*60 ,Known ,1 ,AR ,NM_022124.6 ,1,0.25,Intermediate ,1
CDH23,chr10:73558246 ,c.6965A>T ,p.D2322V ,New ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
CDH23,chr10:73563131 ,c.7826C>T ,p.P2609L ,New ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
CDH23,chr10:73567341 ,c.8377C>T ,p.R2793W ,New ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
GATA3,chr10:8100417 ,c.391dupC ,p.S131Ffs*173 ,New ,1 ,AD ,NM_001002295.2 ,3,-0.6,"Syndromic (HDR), poorer speech ",0
GATA3,chr10:8111563 ,c.1050+2T>C ,- ,Known ,1 ,AD ,NM_001002295.2 ,2,-0.6,"Syndromic (HDR), poorer speech ",0
MPZL2,chr11:118133710 ,c.161delC ,p.P54Lfs*6 ,New ,2 ,AR ,NM_005797.4 ,3,0,neutral baseline,0
TECTA,chr11:120996563 ,c.1756C>T ,p.R586* ,New ,1 ,AD ,NM_005422.4 ,3,-0.25,Mild deficit ,0
MITF,chr11:17590724 ,c.1666C>T ,p.Q556X ,Known ,1 ,AR ,NM_001292063.2 ,2,0,neutral baseline,0
MITF,chr11:17596437 ,c.2464C>T ,p.Q822X ,Known ,3 ,AR ,NM_001292063.2 ,3,0,neutral baseline,0
MITF,chr11:17618418 ,c.3546C>A ,p.Y1194* ,New ,1 ,AR ,NM_001292063.2 ,3,0,neutral baseline,0
MITF,chr11:17635188 ,c.6468delG ,p.V2157* ,New ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
MITF,chr11:17655334 ,c.7180C>T ,p.Q2394X ,Known ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
MITF,chr11:17656384 ,c.7481-5_7482dupGGCCAGT ,- ,Known ,1 ,AR ,NM_001292063.2 ,2,0,neutral baseline,0
MITF,chr11:17656727 ,c.7686C>G ,p.Y2562* ,New ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
MITF,chr11:17667381 ,c.8632C>T ,p.R2878C ,New ,1 ,AR ,NM_001292063.2 ,1,-0.75,neutral baseline,0
MYO7A,chr11:76866988 ,c.321_322insA ,p.Y108Ifs*32 ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
MYO7A,chr11:76867057 ,c.397dupC ,p.H133Pfs*7 ,Known ,1 ,AR ,NM_000260.4 ,3,-0.75,neutral baseline,0
MYO7A,chr11:76873367 ,c.1545G>T ,p.K515N ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
MYO7A,chr11:76895733 ,c.3476G>T ,p.G1159V ,Known ,1 ,AR ,NM_000260.4 ,2,-0.75,neutral baseline,0
MYO7A,chr11:76900394 ,c.3509A>G ,p.E1170G ,Known ,1 ,AR ,NM_000260.4 ,3,-0.75,neutral baseline,0
MYO7A,chr11:76916536 ,c.5510T>C ,p.L1837P ,Known ,1 ,AR ,NM_000260.4 ,1,-0.75,neutral baseline,0
MYO7A,chr11:76916578 ,c.5552T>C ,p.L1851P ,New ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
MYO7A,chr11:76917153 ,c.5648G>A ,p.R1883Q ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
MYO7A,chr11:76925715 ,c.6622C>T ,p.Q2208X ,Known ,1 ,AD ,NM_000260.4 ,2,-0.55,neutral baseline,0
OTOGL,chr12:80729921 ,c.4438+1G>T ,- ,New ,1 ,AR ,NM_001378609.3 ,2,0,neutral baseline,0
OTOGL,chr12:80750699 ,c.6019+5G>A ,- ,Known ,1 ,AR ,NM_001378609.3 ,1,0,neutral baseline,0
GJB2,chr13:20797127-21105945 ,Enhancer deletion (D13S1830) ,- ,Known ,3 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763104 ,c.617A>G ,p.N206S ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763171 ,c.550T>C ,p.R184W ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763305 ,c.416G>A ,p.S139N ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763313 ,c.408C>A ,p.Y136X ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20763361 ,c.355delGAG ,p.E120del ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763395-20763410* ,c.314_329delCCCTTGATGAACTT ,p.K105Rfs*2 ,Known ,3 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763452 ,c.269T>C ,p.L90P ,Known ,4 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763471 ,c.250G>T ,p.V84L ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20763486 ,c.235delC ,p.L79Cfs*3 ,Known ,4 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20763492 ,c.229T>C ,p.W77R ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763552 ,c.169C>T ,p.Q57X ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20763554 ,c.167delT ,p.L56Rfs*26 ,Known ,2 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20763582 ,c.139G>T ,p.E47X ,Known ,2 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763589 ,c.132G>A ,p.W44X ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763612 ,c.109G>A ,p.V37I ,Known ,30 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763620 ,c.101T>C ,p.M34T ,Known ,7 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763650 ,c.71G>A ,p.W24X ,Known ,2 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
GJB2,chr13:20763686 ,c.35delG ,p.G12Vfs*2 ,Known ,63 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
GJB2,chr13:20763720 ,c.1A>G ,p.M1V ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
GJB2,chr13:20766921 ,c.-23+1G>A ,- ,Known ,3 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
COCH,chr14:31358969 ,c.1625G>T ,p.C542F ,Known ,1 ,AD ,NM_004086.3 ,1,0,neutral baseline,0
SIX1,chr14:61115509 ,c.397_399del (exon1) ,p.E133del ,Known ,1 ,AD ,NM_005982.4 ,3,0,neutral baseline,0
TMC1,chr15:43891761-43910998* ,Full gene deletion ,- ,Known ,41 ,AR ,NM_153700.2 ,2,0,neutral baseline,0
TMC1,chr15:43892209 ,c.5188C>T ,p.R1730X ,Known ,1 ,AR ,NM_153700.2 ,2,0,neutral baseline,0
TMC1,chr15:43892807 ,c.4918C>T ,p.L1640F ,Known ,2 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
TMC1,chr15:43893077 ,c.4837G>T ,p.E1613X ,Known ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
TMC1,chr15:43893593 ,c.4701+1G>A ,- ,Known ,2 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
TMC1,chr15:43893620 ,c.4675C>T ,p.Q1559X ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
TMC1,chr15:43896318 ,c.4251delT ,p.L1418*fs*1 ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
TMC1,chr15:43896963 ,c.4012C>T ,p.R1338X ,Known ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
TMC1,chr15:43900061 ,c.3794C>T ,p.P1265L ,New ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
TMC1,chr15:43903435 ,c.3217C>T ,p.R1073X ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
TMC1,chr15:43905365 ,c.2545C>T ,p.R849* ,New ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
TMC1,chr15:43908295 ,c.1469T>C ,p.L490P ,New ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
LHFPL5,chr15:51749643 ,c.8156G>A ,p.R2719H ,New ,1 ,AD ,NM_001174116.1 ,1,-0.9,Very poor ,0
LHFPL5,chr15:51763562 ,c.7250G>A ,p.R2417H ,Known ,1 ,AD ,NM_001378457.1 ,3,-0.9,Very poor ,0
OTOA,chr16:21689835-21772050* ,Full gene deletion ,- ,Known ,6 ,AR ,NM_114672.4 ,3,0,neutral baseline,0
OTOA,chr16:21712243 ,c.875A>G ,p.K292R ,New ,1 ,AR ,NM_114672.4 ,1,0,neutral baseline,0
OTOA,chr16:21721276 ,c.1172C>T ,p.S391L ,Known ,1 ,AR ,NM_144672.4 ,2,0,neutral baseline,0
OTOA,chr16:21728298 ,c.1560_1563delTCTT ,p.F521Ifs*2 ,Known ,1 ,AR ,NM_144672.4 ,1,0,neutral baseline,0
OTOA,chr16:21763762 ,c.2991A>C ,p.E997D ,New ,1 ,AR ,NM_114672.4 ,3,0,neutral baseline,0
CLDN9,chr16:3063860 ,c.500dupG ,p.W168Lfs*116 ,Known ,2 ,AR ,NM_020982.4 ,3,0,Average ,0
MYO15A,chr17:18024533 ,c.2419C>T ,p.Q807* ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
MYO15A,chr17:18029771 ,c.3866+1G>A ,- ,Known ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
MYO15A,chr17:18034837 ,p.c4198G>A ,p.V1400M ,Known ,2 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
MYO15A,chr17:18047827 ,c.6194delT ,p.M2065Sfs*2 ,New ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
MYO15A,chr17:18051432 ,c.6599C>A ,p.S2200* ,New ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
MYO15A,chr17:18051884 ,c.6764+2T>A ,- ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
MYO15A,chr17:18053755 ,c.7225delC ,p.P2409Qfs*8 ,Known ,2 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
MYO15A,chr17:18057202 ,c.8080C>A ,p.R2694S ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
MYO15A,chr17:18061076 ,c.8829delC ,p.P2944Lfs*90 ,New ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
MYO15A,chr17:18064687 ,c.9443G>A ,p.C3148Y ,New ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
MYO15A,chr17:18069748 ,c.9861C>T ,p.G3287G ,Known ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
MYO15A,chr17:18077080 ,c.10351-15T>G ,- ,New ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
USH1G,chr17:72915607 ,c.1324delG ,p.A442Pfs*2 ,New ,1 ,AR ,NM_173477.5 ,1,-0.15,Slightly below average ,0
USH1G,chr17:72919084 ,c.85dupC ,p.D29Gfs*29 ,New ,1 ,AR ,NM_173477.5 ,1,-0.15,Slightly below average ,0
ACTG1,chr17:79478089 ,c.848T>C ,p.M283T ,Known ,1 ,AD ,NM_001614.5 ,3,0,neutral baseline,0
LOXHD1,chr18:44057916 ,c.3009-1G>A ,- ,New ,1 ,AR ,NM_001145472.2 ,2,0,neutral baseline,0
LOXHD1,chr18:44064981 ,c.6182+1G>T ,- ,Known ,1 ,AR ,NM_001384474.1 ,1,0,neutral baseline,0
LOXHD1,chr18:44102209 ,c.1607C>A ,p.A536D ,New ,1 ,AR ,NM_001145472.2 ,3,0,neutral baseline,0
LOXHD1,chr18:44122711 ,c.394C>T ,p.R132W ,New ,1 ,AR ,NM_001145472.2 ,2,0,neutral baseline,0
LOXHD1,chr18:44172012 ,c.1537_1538delAG ,p.L513Efs*17 ,Known ,2 ,AR ,NM_001384474.1 ,3,0,neutral baseline,0
LOXHD1,chr18:44181420 ,c.894T>G ,p.Y298X ,Known ,1 ,AR ,NM_001145472.2 ,3,0,neutral baseline,0
LOXHD1,chr18:44190741 ,c.757C>T ,p.Q253X ,Known ,1 ,AR ,NM_001384474.1 ,3,0,neutral baseline,0
SYNE4,chr19:36498114 ,c.336C>A ,p.C112* ,New ,2 ,AR ,NM_001039876.3 ,1,0,neutral baseline,0
EYA1,chr19:45211289 ,c.1097C>T ,p.P366L ,Known ,1 ,AD ,NM_001039213.4 ,1,-0.8,Very poor ,0
GZF1,chr20:23346235 ,c.1216_1219dupCGGC ,p.H407Pfs*61 ,Known ,2 ,AR ,NM_022482.5 ,1,0,neutral baseline,0
TMPRSS3,chr21:43795841 ,c.1328T>C ,p.I443T ,New ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43796693 ,c.1148T>A ,p.M384K ,Known ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43800275 ,c.999delC ,p.D334Mfs*23 ,New ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43802209 ,c.917C>T ,p.A306V ,New ,1 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43802210 ,c.916G>A ,p.A306T ,Known ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43802308 ,c.818G>T ,p.G273V ,New ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43808545 ,c.413C>A ,p.A138E ,Known ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43808633 ,c.325C>T ,p.R109W ,Known ,2 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43809152 ,c.208delC ,p.H70Tfs*19 ,Known ,4 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
TMPRSS3,chr21:43810053 ,c.188T>G ,p.L63R ,New ,1 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
EYA1,chr22:38120346 ,c.1783C>T ,p.R595X ,Known ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
EYA1,chr22:38120424 ,c.1861C>T ,p.R621* ,New ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
EYA1,chr22:38120739 ,c.2176C>T ,p.R726X ,Known ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
EYA1,chr22:38121144 ,c.2581C>T ,p.R861* ,New ,1 ,AR ,NM_001039141.3 ,2,-0.85,Very poor ,0
SOX10,chr22:38369707 ,c.1196delCA ,p.Q399Rfs*133 ,New ,1 ,AD ,NM_006941.4 ,2,-0.7,"Syndromic, neural dysplasia ",0
SOX10,chr22:38374090 ,c.481C>T ,p.R161C ,Known ,1 ,AD ,NM_006941.4 ,1,-0.7,"Syndromic, neural dysplasia ",0
SOX10,chr22:38379408 ,c.384dupA ,p.L129Pfs*5 ,New ,1 ,AD ,NM_006941.4 ,2,-0.7,"Syndromic, neural dysplasia ",0
COL4A5,chrX:107930773 ,c.4377delT ,p.G1460Efs*94 ,Known ,1 ,XR ,NM_033380.3 ,1,-0.75,"Syndromic, poor ",0
POU3F4,chrX:82763631 ,c.299dupC ,p.H100Qfs*10 ,New ,1 ,XR ,NM_000307.5 ,1,-0.65,Poor outcome (X-linked stapes gusher) ,0