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  1. Cochlear_Implant_Dataset.csv +179 -0
  2. ci_speech_score_regressor.pkl +3 -0
  3. ci_success_classifier.pkl +3 -0
  4. validation_data.csv +14 -0
Cochlear_Implant_Dataset.csv ADDED
@@ -0,0 +1,179 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
+ Gene,Position (hg19) ,cDNA ,Protein ,Status (Known/ New) ,Allele count among probands ,Inheritance of hearing loss ,Transcript ID ,Age,Speech_score,Interpretation,success_label
2
+ GPSM2,chr1:109445857 ,c.1062+1G>T ,- ,Known ,2 ,AR ,NM_013296.5 ,3,0,neutral baseline,0
3
+ USH2A,chr1:215853720 ,c.12067-1A>G ,- ,Known ,1 ,AR ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
4
+ USH2A,chr1:215987118 ,c.9699delT ,p.H3234Ifs*67 ,New ,1 ,AD ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
5
+ USH2A,chr1:216420437 ,c.2299delG ,p.E767Sfs*21 ,Known ,1 ,AR ,NM_206933.4 ,3,0,Average (large inter-patient variance) ,0
6
+ USH2A,chr1:216498834 ,c.956G>A ,p.C319Y ,Known ,1 ,AR ,NM_206933.4 ,1,0,Average (large inter-patient variance) ,0
7
+ USH2A,chr1:216498841 ,c.949C>A ,p.R317R ,Known ,1 ,AR ,NM_206933.4 ,2,0,Average (large inter-patient variance) ,0
8
+ KCNQ4,chr1:41285111 ,c.801_803delCTC ,p.S269delS ,Known ,1 ,AD ,NM_004700.4 ,2,0,neutral baseline,0
9
+ ESPN,chr1:6511719 ,c.1972G>A ,p.E658K ,New ,1 ,AR ,NM_031475.3 ,2,-0.2,Mild deficit ,0
10
+ ESPN,chr1:6520137 ,c.2496C>G ,P.Y832X ,New ,1 ,AR ,NM_031475.3 ,3,-0.2,Mild deficit ,0
11
+ 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
12
+ 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
13
+ 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
14
+ 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
15
+ 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
16
+ MITF,chr3:69788586-70017488* ,Full gene deletion ,- ,na ,1 ,AD ,NM_001354604.2 ,1,-0.35,Variable (Waardenburg) ,0
17
+ MITF,chr3:69985911 ,c.355-1062G>C ,- ,Known ,1 ,AD ,NM_001354604.2 ,2,-0.35,Variable (Waardenburg) ,0
18
+ MITF,chr3:70008546 ,c.1136_1138delCAT ,p.N379del ,New ,1 ,AD ,NM_198159.2 ,1,-0.35,Variable (Waardenburg) ,0
19
+ MITF,chr3:70014048 ,c.1212G>A ,p.T404T ,New ,1 ,AD ,NM_198159.2 ,1,-0.35,Variable (Waardenburg) ,0
20
+ LHFPL5,chr4:43022411 ,c.668T>A ,p.L223Q ,New ,2 ,AR ,NM_001080476.3 ,2,-0.55,Below average ,0
21
+ ADGRV1,"chr5:90,118,339-90,119,245 ",Partial deletion ,- ,New ,2 ,AR ,NM_032119.4 ,1,0,Average (Usher 2) ,0
22
+ LHFPL5,chr5:140903734 ,c.3637C>T ,p.R1213* ,Known ,1 ,AD ,NM_005219.5 ,2,-0.5,Below average ,0
23
+ EYA4,chr6:133802621 ,c.991dupG ,p.S331Kfs*10 ,New ,1 ,AD ,NM_004100.5 ,1,-0.45,"Progressive type DFNA10, modest ",0
24
+ COL11A2,chr6:33136731 ,c.3852+1G>T ,- ,New ,1 ,AD ,NM_080680.3 ,2,-0.4,"Structural anomaly, modest outcomes ",0
25
+ LHFPL5,chr6:76538256 ,c.188-1G>T ,- ,New ,1 ,AD ,NM_004999.4 ,2,-0.5,Below average ,0
26
+ LHFPL5,chr6:76551016 ,c.737A>G ,p.H246R ,Known ,2 ,AD ,NM_004999.4 ,2,-0.5,Below average ,0
27
+ LHFPL5,chr6:76580403 ,c.1983+1G>A ,- ,Known ,1 ,AD ,NM_004999.4 ,1,-0.5,Below average ,0
28
+ SLC26A4,chr7:107302082 ,c.-3-2A>G ,- ,Known ,3 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
29
+ SLC26A4,chr7:107303305 ,c.165-436G>A ,- ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
30
+ SLC26A4,chr7:107303740 ,c.165-1G>A ,- ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
31
+ SLC26A4,chr7:107303746 ,c.170C>A ,p.S57X ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
32
+ SLC26A4,chr7:107303779 ,c.203T>C ,p.L68P ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
33
+ SLC26A4,chr7:107312690 ,c.412G>T ,p.V138F ,Known ,2 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
34
+ SLC26A4,chr7:107312700 ,c.415+7A>G ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
35
+ SLC26A4,chr7:107315415 ,c.626G>T ,p.G209V ,Known ,2 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
36
+ SLC26A4,chr7:107315496 ,c.707T>C ,p.L236P ,Known ,4 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
37
+ SLC26A4,chr7:107323898 ,c.919-2A>G ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
38
+ SLC26A4,chr7:107323983 ,c.1001+1G>A ,- ,Known ,3 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
39
+ SLC26A4,chr7:107330570 ,c.1151A>G ,p.E384G ,Known ,2 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
40
+ SLC26A4,chr7:107330645 ,c.1226G>A ,p.R409H ,Known ,1��,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
41
+ SLC26A4,chr7:107330648 ,c.1229C>T ,p.T410M ,Known ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
42
+ SLC26A4,chr7:107330665 ,c.1246A>C ,p.T416P ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
43
+ SLC26A4,chr7:107335062 ,c.1342-2_1343dupCAGT ,- ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
44
+ SLC26A4,chr7:107336429 ,c.1489G>A ,p.G497S ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
45
+ SLC26A4,chr7:107340591 ,c.1678G>A ,p.D560N ,Known ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
46
+ SLC26A4,chr7:107341555 ,c.1717G>C ,p.D573H ,New ,1 ,AR ,NM_000441.2 ,2,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
47
+ SLC26A4,chr7:107341568 ,c.1730T>G ,p.V577G ,New ,1 ,AR ,NM_000441.2 ,1,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
48
+ SLC26A4,chr7:107342483 ,c.2015G>A ,p.G672E ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
49
+ SLC26A4,chr7:107356130 ,c.*239C>T ,- ,Known ,1 ,AR ,NM_000441.2 ,3,0.55,Good outcomes (Pendred / enlarged vestibular aqueduct) ,1
50
+ CHD7,chr8:61655471 ,c.1480C>T ,p.R494* ,Known ,1 ,AD ,NM_017780.4 ,2,-0.3,Syndromic; reduced benefit ,0
51
+ CHD7,chr8:61736569 ,c.3372_3373dupGA ,p.D1125Gfs*9 ,New ,1 ,AD ,NM_017780.4 ,3,-0.3,Syndromic; reduced benefit ,0
52
+ CHD7,chr8:61769091 ,c.7252C>T ,p.R2418* ,Known ,1 ,AD ,NM_017780.4 ,3,-0.3,Syndromic; reduced benefit ,0
53
+ MITF,chr10:102770435 ,c.2211delC ,p.Q737Hfs*16 ,Known ,1 ,AR ,NM_001195263.2 ,2,0,neutral baseline,0
54
+ MITF,chr10:102770557 ,c.2089delC ,p.A697Pfs*26 ,Known ,2 ,AR ,NM_001195263.2 ,1,0,neutral baseline,0
55
+ MITF,chr10:102780374 ,c.928+1G>A ,- ,Known ,1 ,AR ,NM_001195263.2 ,1,0,neutral baseline,0
56
+ MITF,chr10:123274644 ,c.1274G>A ,p.R425Q ,New ,1 ,AD ,NM_000141.5 ,3,0,neutral baseline,0
57
+ PCDH15,chr10:55568962 ,c.4858_4862dupGAGTT ,p.F1621Lfs*185 ,New ,2 ,AR ,NM_001142769.3 ,3,0.35,Mildly favorable ,1
58
+ PCDH15,chr10:55569149 ,c.4676delG ,p.R1559Kfs*3 ,Known ,1 ,AR ,NM_001142769.3 ,2,0.35,Mildly favorable ,1
59
+ PCDH15,chr10:55955570 ,c.1193C>T ,p.P398L ,New ,1 ,AR ,NM_001142769.3 ,3,0.35,Mildly favorable ,1
60
+ CDH23,chr10:73270920 ,c.380A>G ,p.D127G ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
61
+ CDH23,chr10:73466659 ,c.2959G>A ,p.D987N ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
62
+ CDH23,chr10:73550880 ,c.6050-9G>A ,- ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
63
+ CDH23,chr10:73553085 ,c.6402_6405delAGAG ,p.E2135Sfs*7 ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
64
+ CDH23,chr10:73553127 ,c.6442G>A ,p.D2148N ,Known ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
65
+ CDH23,chr10:73553218 ,c.6533T>A ,p.I2178N ,Known ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
66
+ CDH23,chr10:73558214 ,c.6933delT ,p.T2313Pfs*60 ,Known ,1 ,AR ,NM_022124.6 ,1,0.25,Intermediate ,1
67
+ CDH23,chr10:73558246 ,c.6965A>T ,p.D2322V ,New ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
68
+ CDH23,chr10:73563131 ,c.7826C>T ,p.P2609L ,New ,1 ,AR ,NM_022124.6 ,3,0.25,Intermediate ,1
69
+ CDH23,chr10:73567341 ,c.8377C>T ,p.R2793W ,New ,1 ,AR ,NM_022124.6 ,2,0.25,Intermediate ,1
70
+ GATA3,chr10:8100417 ,c.391dupC ,p.S131Ffs*173 ,New ,1 ,AD ,NM_001002295.2 ,3,-0.6,"Syndromic (HDR), poorer speech ",0
71
+ GATA3,chr10:8111563 ,c.1050+2T>C ,- ,Known ,1 ,AD ,NM_001002295.2 ,2,-0.6,"Syndromic (HDR), poorer speech ",0
72
+ MPZL2,chr11:118133710 ,c.161delC ,p.P54Lfs*6 ,New ,2 ,AR ,NM_005797.4 ,3,0,neutral baseline,0
73
+ TECTA,chr11:120996563 ,c.1756C>T ,p.R586* ,New ,1 ,AD ,NM_005422.4 ,3,-0.25,Mild deficit ,0
74
+ MITF,chr11:17590724 ,c.1666C>T ,p.Q556X ,Known ,1 ,AR ,NM_001292063.2 ,2,0,neutral baseline,0
75
+ MITF,chr11:17596437 ,c.2464C>T ,p.Q822X ,Known ,3 ,AR ,NM_001292063.2 ,3,0,neutral baseline,0
76
+ MITF,chr11:17618418 ,c.3546C>A ,p.Y1194* ,New ,1 ,AR ,NM_001292063.2 ,3,0,neutral baseline,0
77
+ MITF,chr11:17635188 ,c.6468delG ,p.V2157* ,New ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
78
+ MITF,chr11:17655334 ,c.7180C>T ,p.Q2394X ,Known ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
79
+ MITF,chr11:17656384 ,c.7481-5_7482dupGGCCAGT ,- ,Known ,1 ,AR ,NM_001292063.2 ,2,0,neutral baseline,0
80
+ MITF,chr11:17656727 ,c.7686C>G ,p.Y2562* ,New ,1 ,AR ,NM_001292063.2 ,1,0,neutral baseline,0
81
+ MITF,chr11:17667381 ,c.8632C>T ,p.R2878C ,New ,1 ,AR ,NM_001292063.2 ,1,-0.75,neutral baseline,0
82
+ MYO7A,chr11:76866988 ,c.321_322insA ,p.Y108Ifs*32 ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
83
+ MYO7A,chr11:76867057 ,c.397dupC ,p.H133Pfs*7 ,Known ,1 ,AR ,NM_000260.4 ,3,-0.75,neutral baseline,0
84
+ MYO7A,chr11:76873367 ,c.1545G>T ,p.K515N ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
85
+ MYO7A,chr11:76895733 ,c.3476G>T ,p.G1159V ,Known ,1 ,AR ,NM_000260.4 ,2,-0.75,neutral baseline,0
86
+ MYO7A,chr11:76900394 ,c.3509A>G ,p.E1170G ,Known ,1 ,AR ,NM_000260.4 ,3,-0.75,neutral baseline,0
87
+ MYO7A,chr11:76916536 ,c.5510T>C ,p.L1837P ,Known ,1 ,AR ,NM_000260.4 ,1,-0.75,neutral baseline,0
88
+ MYO7A,chr11:76916578 ,c.5552T>C ,p.L1851P ,New ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
89
+ MYO7A,chr11:76917153 ,c.5648G>A ,p.R1883Q ,Known ,1 ,AR ,NM_000260.4 ,2,-0.55,neutral baseline,0
90
+ MYO7A,chr11:76925715 ,c.6622C>T ,p.Q2208X ,Known ,1 ,AD ,NM_000260.4 ,2,-0.55,neutral baseline,0
91
+ OTOGL,chr12:80729921 ,c.4438+1G>T ,- ,New ,1 ,AR ,NM_001378609.3 ,2,0,neutral baseline,0
92
+ OTOGL,chr12:80750699 ,c.6019+5G>A ,- ,Known ,1 ,AR ,NM_001378609.3 ,1,0,neutral baseline,0
93
+ GJB2,chr13:20797127-21105945 ,Enhancer deletion (D13S1830) ,- ,Known ,3 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
94
+ GJB2,chr13:20763104 ,c.617A>G ,p.N206S ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
95
+ GJB2,chr13:20763171 ,c.550T>C ,p.R184W ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
96
+ GJB2,chr13:20763305 ,c.416G>A ,p.S139N ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
97
+ GJB2,chr13:20763313 ,c.408C>A ,p.Y136X ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
98
+ GJB2,chr13:20763361 ,c.355delGAG ,p.E120del ,Known ,1 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
99
+ 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
100
+ GJB2,chr13:20763452 ,c.269T>C ,p.L90P ,Known ,4 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
101
+ GJB2,chr13:20763471 ,c.250G>T ,p.V84L ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
102
+ GJB2,chr13:20763486 ,c.235delC ,p.L79Cfs*3 ,Known ,4 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
103
+ GJB2,chr13:20763492 ,c.229T>C ,p.W77R ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
104
+ GJB2,chr13:20763552 ,c.169C>T ,p.Q57X ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
105
+ GJB2,chr13:20763554 ,c.167delT ,p.L56Rfs*26 ,Known ,2 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
106
+ GJB2,chr13:20763582 ,c.139G>T ,p.E47X ,Known ,2 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
107
+ GJB2,chr13:20763589 ,c.132G>A ,p.W44X ,Known ,1 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
108
+ GJB2,chr13:20763612 ,c.109G>A ,p.V37I ,Known ,30 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
109
+ GJB2,chr13:20763620 ,c.101T>C ,p.M34T ,Known ,7 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
110
+ GJB2,chr13:20763650 ,c.71G>A ,p.W24X ,Known ,2 ,AR ,NM_004004.6 ,2,0.7,Very good post-CI performance ,1
111
+ GJB2,chr13:20763686 ,c.35delG ,p.G12Vfs*2 ,Known ,63 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
112
+ GJB2,chr13:20763720 ,c.1A>G ,p.M1V ,Known ,1 ,AR ,NM_004004.6 ,3,0.7,Very good post-CI performance ,1
113
+ GJB2,chr13:20766921 ,c.-23+1G>A ,- ,Known ,3 ,AR ,NM_004004.6 ,1,0.7,Very good post-CI performance ,1
114
+ COCH,chr14:31358969 ,c.1625G>T ,p.C542F ,Known ,1 ,AD ,NM_004086.3 ,1,0,neutral baseline,0
115
+ SIX1,chr14:61115509 ,c.397_399del (exon1) ,p.E133del ,Known ,1 ,AD ,NM_005982.4 ,3,0,neutral baseline,0
116
+ TMC1,chr15:43891761-43910998* ,Full gene deletion ,- ,Known ,41 ,AR ,NM_153700.2 ,2,0,neutral baseline,0
117
+ TMC1,chr15:43892209 ,c.5188C>T ,p.R1730X ,Known ,1 ,AR ,NM_153700.2 ,2,0,neutral baseline,0
118
+ TMC1,chr15:43892807 ,c.4918C>T ,p.L1640F ,Known ,2 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
119
+ TMC1,chr15:43893077 ,c.4837G>T ,p.E1613X ,Known ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
120
+ TMC1,chr15:43893593 ,c.4701+1G>A ,- ,Known ,2 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
121
+ TMC1,chr15:43893620 ,c.4675C>T ,p.Q1559X ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
122
+ TMC1,chr15:43896318 ,c.4251delT ,p.L1418*fs*1 ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
123
+ TMC1,chr15:43896963 ,c.4012C>T ,p.R1338X ,Known ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
124
+ TMC1,chr15:43900061 ,c.3794C>T ,p.P1265L ,New ,1 ,AR ,NM_153700.2 ,3,0,neutral baseline,0
125
+ TMC1,chr15:43903435 ,c.3217C>T ,p.R1073X ,Known ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
126
+ TMC1,chr15:43905365 ,c.2545C>T ,p.R849* ,New ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
127
+ TMC1,chr15:43908295 ,c.1469T>C ,p.L490P ,New ,1 ,AR ,NM_153700.2 ,1,0,neutral baseline,0
128
+ LHFPL5,chr15:51749643 ,c.8156G>A ,p.R2719H ,New ,1 ,AD ,NM_001174116.1 ,1,-0.9,Very poor ,0
129
+ LHFPL5,chr15:51763562 ,c.7250G>A ,p.R2417H ,Known ,1 ,AD ,NM_001378457.1 ,3,-0.9,Very poor ,0
130
+ OTOA,chr16:21689835-21772050* ,Full gene deletion ,- ,Known ,6 ,AR ,NM_114672.4 ,3,0,neutral baseline,0
131
+ OTOA,chr16:21712243 ,c.875A>G ,p.K292R ,New ,1 ,AR ,NM_114672.4 ,1,0,neutral baseline,0
132
+ OTOA,chr16:21721276 ,c.1172C>T ,p.S391L ,Known ,1 ,AR ,NM_144672.4 ,2,0,neutral baseline,0
133
+ OTOA,chr16:21728298 ,c.1560_1563delTCTT ,p.F521Ifs*2 ,Known ,1 ,AR ,NM_144672.4 ,1,0,neutral baseline,0
134
+ OTOA,chr16:21763762 ,c.2991A>C ,p.E997D ,New ,1 ,AR ,NM_114672.4 ,3,0,neutral baseline,0
135
+ CLDN9,chr16:3063860 ,c.500dupG ,p.W168Lfs*116 ,Known ,2 ,AR ,NM_020982.4 ,3,0,Average ,0
136
+ MYO15A,chr17:18024533 ,c.2419C>T ,p.Q807* ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
137
+ MYO15A,chr17:18029771 ,c.3866+1G>A ,- ,Known ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
138
+ MYO15A,chr17:18034837 ,p.c4198G>A ,p.V1400M ,Known ,2 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
139
+ MYO15A,chr17:18047827 ,c.6194delT ,p.M2065Sfs*2 ,New ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
140
+ MYO15A,chr17:18051432 ,c.6599C>A ,p.S2200* ,New ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
141
+ MYO15A,chr17:18051884 ,c.6764+2T>A ,- ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
142
+ MYO15A,chr17:18053755 ,c.7225delC ,p.P2409Qfs*8 ,Known ,2 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
143
+ MYO15A,chr17:18057202 ,c.8080C>A ,p.R2694S ,Known ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
144
+ MYO15A,chr17:18061076 ,c.8829delC ,p.P2944Lfs*90 ,New ,1 ,AR ,NM_016239.4 ,3,0.45,Generally favorable ,1
145
+ MYO15A,chr17:18064687 ,c.9443G>A ,p.C3148Y ,New ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
146
+ MYO15A,chr17:18069748 ,c.9861C>T ,p.G3287G ,Known ,1 ,AR ,NM_016239.4 ,2,0.45,Generally favorable ,1
147
+ MYO15A,chr17:18077080 ,c.10351-15T>G ,- ,New ,1 ,AR ,NM_016239.4 ,1,0.45,Generally favorable ,1
148
+ USH1G,chr17:72915607 ,c.1324delG ,p.A442Pfs*2 ,New ,1 ,AR ,NM_173477.5 ,1,-0.15,Slightly below average ,0
149
+ USH1G,chr17:72919084 ,c.85dupC ,p.D29Gfs*29 ,New ,1 ,AR ,NM_173477.5 ,1,-0.15,Slightly below average ,0
150
+ ACTG1,chr17:79478089 ,c.848T>C ,p.M283T ,Known ,1 ,AD ,NM_001614.5 ,3,0,neutral baseline,0
151
+ LOXHD1,chr18:44057916 ,c.3009-1G>A ,- ,New ,1 ,AR ,NM_001145472.2 ,2,0,neutral baseline,0
152
+ LOXHD1,chr18:44064981 ,c.6182+1G>T ,- ,Known ,1 ,AR ,NM_001384474.1 ,1,0,neutral baseline,0
153
+ LOXHD1,chr18:44102209 ,c.1607C>A ,p.A536D ,New ,1 ,AR ,NM_001145472.2 ,3,0,neutral baseline,0
154
+ LOXHD1,chr18:44122711 ,c.394C>T ,p.R132W ,New ,1 ,AR ,NM_001145472.2 ,2,0,neutral baseline,0
155
+ LOXHD1,chr18:44172012 ,c.1537_1538delAG ,p.L513Efs*17 ,Known ,2 ,AR ,NM_001384474.1 ,3,0,neutral baseline,0
156
+ LOXHD1,chr18:44181420 ,c.894T>G ,p.Y298X ,Known ,1 ,AR ,NM_001145472.2 ,3,0,neutral baseline,0
157
+ LOXHD1,chr18:44190741 ,c.757C>T ,p.Q253X ,Known ,1 ,AR ,NM_001384474.1 ,3,0,neutral baseline,0
158
+ SYNE4,chr19:36498114 ,c.336C>A ,p.C112* ,New ,2 ,AR ,NM_001039876.3 ,1,0,neutral baseline,0
159
+ EYA1,chr19:45211289 ,c.1097C>T ,p.P366L ,Known ,1 ,AD ,NM_001039213.4 ,1,-0.8,Very poor ,0
160
+ GZF1,chr20:23346235 ,c.1216_1219dupCGGC ,p.H407Pfs*61 ,Known ,2 ,AR ,NM_022482.5 ,1,0,neutral baseline,0
161
+ TMPRSS3,chr21:43795841 ,c.1328T>C ,p.I443T ,New ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
162
+ TMPRSS3,chr21:43796693 ,c.1148T>A ,p.M384K ,Known ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
163
+ TMPRSS3,chr21:43800275 ,c.999delC ,p.D334Mfs*23 ,New ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
164
+ TMPRSS3,chr21:43802209 ,c.917C>T ,p.A306V ,New ,1 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
165
+ TMPRSS3,chr21:43802210 ,c.916G>A ,p.A306T ,Known ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
166
+ TMPRSS3,chr21:43802308 ,c.818G>T ,p.G273V ,New ,1 ,AR ,NM_001256317.3 ,1,0.6,Above-average outcomes ,1
167
+ TMPRSS3,chr21:43808545 ,c.413C>A ,p.A138E ,Known ,1 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
168
+ TMPRSS3,chr21:43808633 ,c.325C>T ,p.R109W ,Known ,2 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
169
+ TMPRSS3,chr21:43809152 ,c.208delC ,p.H70Tfs*19 ,Known ,4 ,AR ,NM_001256317.3 ,3,0.6,Above-average outcomes ,1
170
+ TMPRSS3,chr21:43810053 ,c.188T>G ,p.L63R ,New ,1 ,AR ,NM_001256317.3 ,2,0.6,Above-average outcomes ,1
171
+ EYA1,chr22:38120346 ,c.1783C>T ,p.R595X ,Known ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
172
+ EYA1,chr22:38120424 ,c.1861C>T ,p.R621* ,New ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
173
+ EYA1,chr22:38120739 ,c.2176C>T ,p.R726X ,Known ,1 ,AR ,NM_001039141.3 ,1,-0.85,Very poor ,0
174
+ EYA1,chr22:38121144 ,c.2581C>T ,p.R861* ,New ,1 ,AR ,NM_001039141.3 ,2,-0.85,Very poor ,0
175
+ SOX10,chr22:38369707 ,c.1196delCA ,p.Q399Rfs*133 ,New ,1 ,AD ,NM_006941.4 ,2,-0.7,"Syndromic, neural dysplasia ",0
176
+ SOX10,chr22:38374090 ,c.481C>T ,p.R161C ,Known ,1 ,AD ,NM_006941.4 ,1,-0.7,"Syndromic, neural dysplasia ",0
177
+ SOX10,chr22:38379408 ,c.384dupA ,p.L129Pfs*5 ,New ,1 ,AD ,NM_006941.4 ,2,-0.7,"Syndromic, neural dysplasia ",0
178
+ COL4A5,chrX:107930773 ,c.4377delT ,p.G1460Efs*94 ,Known ,1 ,XR ,NM_033380.3 ,1,-0.75,"Syndromic, poor ",0
179
+ POU3F4,chrX:82763631 ,c.299dupC ,p.H100Qfs*10 ,New ,1 ,XR ,NM_000307.5 ,1,-0.65,Poor outcome (X-linked stapes gusher) ,0
ci_speech_score_regressor.pkl ADDED
@@ -0,0 +1,3 @@
 
 
 
 
1
+ version https://git-lfs.github.com/spec/v1
2
+ oid sha256:ec6dc9e363995de42997865a329484cc7b2710b46ee443ca379e280a410503ec
3
+ size 380794
ci_success_classifier.pkl ADDED
@@ -0,0 +1,3 @@
 
 
 
 
1
+ version https://git-lfs.github.com/spec/v1
2
+ oid sha256:62ffa4fc084666e5331ac868c44967b2b5b1b255abee995686079356dff8ea5e
3
+ size 478098
validation_data.csv ADDED
@@ -0,0 +1,14 @@
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
+ patient_code/id/name,Age,gender,Gene
2
+ ARPIT TRID-2025-17534,1.6YRS,Male,LHFPL5
3
+ DHRUVANSH PAUL / TRID - 2025-17531,2.3YRS,Male,MITF
4
+ SHAHZAN TRID -22025-17535,1.11,Male,SLC26A4
5
+ SHABHAY - TRID -2025-17536,1.2,Male,NA
6
+ MOHD SHIFAN QUERSHI TRID -2025-17533,2,Male,CDH23
7
+ VIYAN SAINI TRID-2025- 17529,2.1,Male,MYO15A
8
+ ABDUL AHAD TRID -2025-17530,2.2,Male,EYA1
9
+ MOHD UMAR TRID -2025 -17528,1.5,Male,TMC1
10
+ SAANVI PANDIT TRID -2025- 17532,3,Female,GJB2
11
+ KIAAN TRID-2025-17527,3,Male,MYO7A
12
+ YOUGANSH TRID - 2025-17526,2.2,Male,NA
13
+ AIESHA TRID 2025-17525,2.8,Female,MYO7A
14
+ FATIMA TRID 2025 -17524,2.8,Female,MYO7A