NOTE: This dataset contains short tandem repeat (STR) calls from 133 individuals at 14 known pathogenic loci described in [Dolzhenko 2021]. It includes ExpansionHunter genotypes, REViewer read visualizations, and PCR truth data. One way it can be useful is for learning REViewer image features that differ between over-estimated, under-estimated, and accurate ExpansionHunter genotypes. This web page was generated using FlipBook - a tool for manually reviewing batches of images.

# Path Locus (Inheritance) Sex PCR_verdict EH_verdict MostCommonAnalystResponse NumAnalystsMatchedPcr Premutation_[>] Pathogenic_[≥] PCR_short PCR_long EH_short EH_short_CI EH_long EH_long_CI EH_matched_PCR MostCommonAnalystResponse_matched_PCR
1 GE_case25 AR (XR) male full-expansion intermediate intermediate 2 34 38 expanded 37 37-50   no   no
2 GE_case27 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 expanded 40 41-41   yes   yes
3 GE_case26 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 41 42 42-50   yes   yes
4 GE_case28 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 49 42 42-43   yes   yes
5 GE_case30 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 48 42 42-46   yes   yes
6 GE_case33 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 expanded 43 43-50   yes   yes
7 GE_case29 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 53 44 44-50   yes   yes
8 GE_case32 AR (XR) male full-expansion full-expansion full-expansion 12 34 38 45 46 46-50   yes   yes
9 GE_case31 AR (XR) female full-expansion full-expansion full-expansion 12 34 38 22 48 23 23-23 47 23-47   yes   yes
10. GE_case80 ATN1 (AD) female full-expansion intermediate intermediate 2 34 48 16 54 20 20-20 47 20-50   no   no
11. GE_case86 ATN1 (AD) female full-expansion full-expansion full-expansion 12 34 48 15 55 19 19-19 55 50-60   yes   yes
12. GE_case79 ATN1 (AD) male full-expansion full-expansion full-expansion 12 34 48 16 54 21 21-21 60 50-71   yes   yes
13. GE_case81 ATN1 (AD) male full-expansion full-expansion full-expansion 12 34 48 15 60 19 19-19 68 53-81   yes   yes
14. GE_case83 ATN1 (AD) female full-expansion full-expansion full-expansion 12 34 48 10 69 14 14-14 70 55-83   yes   yes
15. GE_case78 ATN1 (AD) male full-expansion full-expansion full-expansion 12 34 48 11 62 17 17-17 93 67-114   yes   yes
16. GE_case116 ATXN1 (AD) female normal normal normal 12 39 44 27 27 22 22-42 22 22-42   yes   yes
17. GE_case102 ATXN1 (AD) female normal normal normal 12 39 44 30 30 29 29-42 29 29-42   yes   yes
18. GE_case91 ATXN1 (AD) male normal normal normal 12 39 44 29 31 29 29-42 29 29-42   yes   yes
19. GE_case148 ATXN1 (AD) male normal normal normal 12 39 44 30 36 30 31-31 36 31-47   yes   yes
20. GE_case105 ATXN1 (AD) male normal normal normal 12 39 44 30 36 36 36-42 36 36-42   yes   yes
21. GE_case193 ATXN1 (AD) female full-expansion intermediate intermediate 2 39 44 26 44 27 27-27 40 27-50   no   no
22. GE_case247 ATXN2 (AD) female full-expansion full-expansion full-expansion 12 31 33 normal expanded 22 22-22 115 84-146   yes   yes
23. GE_case252 ATXN2 (AD) male intermediate intermediate intermediate 12 31 33 22 32 22 22-22 32 32-32   yes   yes
24. GE_case270 ATXN2 (AD) female full-expansion full-expansion full-expansion 12 31 33 22 33 22 22-22 34 34-34   yes   yes
25. GE_case280 ATXN2 (AD) female full-expansion full-expansion full-expansion 12 31 33 31 41 31 31-31 36 31-38   yes   yes
26. GE_case244 ATXN2 (AD) male full-expansion full-expansion full-expansion 12 31 33 21 39 22 22-22 40 40-40   yes   yes
27. GE_case248 ATXN2 (AD) male full-expansion full-expansion full-expansion 12 31 33 normal expanded 22 22-22 42 42-42   yes   yes
28. GE_case253 ATXN2 (AD) male normal full-expansion normal 8 31 33 22 22 22 22-22 42 22-42   no   yes
29. GE_case337 ATXN3 (AD) female full-expansion intermediate intermediate 0 43 60 27 60 24 24-24 52 50-54   no   no
30. GE_case354 ATXN3 (AD) female full-expansion intermediate intermediate 0 43 60 33 63 30 30-30 52 50-54   no   no
31. GE_case336 ATXN3 (AD) male full-expansion intermediate intermediate 0 43 60 27 61 25 25-25 58 50-64   no   no
32. GE_case352 ATXN3 (AD) male full-expansion full-expansion full-expansion 12 43 60 28 67 26 26-26 70 57-81   yes   yes
33. GE_case408 ATXN7 (AD) female full-expansion full-expansion full-expansion 12 34 36 12 expanded 12 12-12 109 79-135   yes   yes
34. GE_case413 ATXN7 (AD) female full-expansion full-expansion full-expansion 12 34 36 10 46 10 10-10 52 50-54   yes   yes
35. GE_case415 ATXN7 (AD) female full-expansion full-expansion full-expansion 12 34 36 normal expanded 11 11-11 52 50-54   yes   yes
36. GE_case416 ATXN7 (AD) female full-expansion full-expansion full-expansion 12 34 36 10 300 10 10-10 84 69-99   yes   yes
37. GE_case460 C9orf72 (AD) female full-expansion full-expansion full-expansion 12 30 60 2 expanded 2 2-2 117 95-139   yes   yes
38. GE_case472 C9orf72 (AD) female intermediate intermediate intermediate 12 30 60 10 50 10 10-10 36 29-41   yes   yes
39. GE_case506 C9orf72 (AD) male full-expansion intermediate intermediate 0 30 60 2 expanded 2 2-2 42 34-49   no   no
40. GE_case466 C9orf72 (AD) male full-expansion intermediate intermediate 0 30 60 8 expanded 8 8-8 43 35-51   no   no
41. GE_case464 C9orf72 (AD) male full-expansion intermediate intermediate 1 30 60 7 expanded 7 7-7 45 37-54   no   no
42. GE_case469 C9orf72 (AD) male full-expansion intermediate intermediate 0 30 60 2 expanded 2 2-2 46 37-54   no   no
43. GE_case483 C9orf72 (AD) female full-expansion intermediate intermediate 0 30 60 5 expanded 5 5-5 48 36-59   no   no
44. GE_case476 C9orf72 (AD) male full-expansion intermediate intermediate 0 30 60 5 expanded 5 5-5 53 41-64   no   no
45. GE_case473 C9orf72 (AD) male full-expansion intermediate intermediate 2 30 60 2 expanded 2 2-2 58 47-68   no   no
46. GE_case562 CACNA1A (AD) female intermediate intermediate intermediate 12 17 20 11 18 11 11-11 18 18-18   yes   yes
47. GE_case561 CACNA1A (AD) female full-expansion full-expansion full-expansion 12 17 20 13 22 13 13-13 22 22-22   yes   yes
48. GE_case573 CACNA1A (AD) female full-expansion full-expansion full-expansion 12 17 20 13 22 13 13-13 22 22-22   yes   yes
49. GE_case591 DMPK (AD) male full-expansion full-expansion full-expansion 12 50 13 93 13 13-13 104 82-123   yes   yes
50. GE_case587 DMPK (AD) female full-expansion full-expansion full-expansion 12 50 12 expanded 12 12-12 105 80-128   yes   yes
51. GE_case589 DMPK (AD) female full-expansion full-expansion full-expansion 12 50 63 16 16-16 113 89-136   yes   yes
52. GE_case588 DMPK (AD) male full-expansion full-expansion full-expansion 12 50 13 expanded 13 13-13 114 89-137   yes   yes
53. GE_case590 DMPK (AD) female full-expansion full-expansion full-expansion 12 50 13 expanded 13 13-13 115 90-137   yes   yes
54. GE_case585 DMPK (AD) female full-expansion full-expansion full-expansion 12 50 normal expanded 5 5-5 122 95-149   yes   yes
55. GE_case586 DMPK (AD) female full-expansion full-expansion full-expansion 12 50 10 expanded 10 10-10 128 99-158   yes   yes
56. GE_case608 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 >200 102 81-121   no   no
57. GE_case618 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 expanded 115 92-137   no   no
58. GE_case615 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 expanded 131 100-159   no   no
59. GE_case639 FMR1 (XR) male normal normal normal 12 55 200 47 53 50-56   yes   yes
60. GE_case605 FMR1 (XR) male normal normal normal 12 55 200 41 54 50-59   yes   yes
61. GE_case621 FMR1 (XR) male normal normal normal 11 55 200 50 55 50-60   yes   yes
62. GE_case624 FMR1 (XR) male normal normal normal 9 55 200 51 55 50-59   yes   yes
63. GE_case678 FMR1 (XR) male intermediate intermediate intermediate 12 55 200 62 57 50-62   yes   yes
64. GE_case620 FMR1 (XR) male normal intermediate intermediate 4 55 200 37 58 50-64   no   no
65. GE_case632 FMR1 (XR) male normal intermediate intermediate 1 55 200 45 60 50-67   no   no
66. GE_case623 FMR1 (XR) male normal intermediate intermediate 1 55 200 51 64 50-76   no   no
67. GE_case659 FMR1 (XR) male intermediate intermediate intermediate 11 55 200 70 64 50-75   yes   yes
68. GE_case676 FMR1 (XR) male intermediate intermediate intermediate 11 55 200 94 67 52-80   yes   yes
69. GE_case606 FMR1 (XR) male intermediate intermediate intermediate 10 55 200 premutation 69 55-81   yes   yes
70. GE_case637 FMR1 (XR) male intermediate intermediate intermediate 11 55 200 75 70 53-85   yes   yes
71. GE_case661 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 expanded 74 58-87   no   no
72. GE_case685 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 expanded 75 58-90   no   no
73. GE_case607 FMR1 (XR) male intermediate intermediate intermediate 12 55 200 premutation 77 61-90   yes   yes
74. GE_case641 FMR1 (XR) male normal intermediate intermediate 0 55 200 30 77 58-93   no   no
75. GE_case644 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 >200 80 60-96   no   no
76. GE_case663 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 >200 87 66-106   no   no
77. GE_case666 FMR1 (XR) male full-expansion intermediate intermediate 0 55 200 expanded 99 78-120   no   no
78. GE_case612 FMR1 (XR) female full-expansion intermediate intermediate 0 55 200 30 expanded 30 30-30 114 87-138   no   no
79. GE_case594 FMR1 (XR) female normal normal normal 12 55 200 23 31 30 30-30 53 50-57   yes   yes
80. GE_case631 FMR1 (XR) female normal normal normal 12 55 200 45 30 30 30-30 53 50-56   yes   yes
81. GE_case609 FMR1 (XR) female normal normal normal 12 55 200 39 31 39 39-39 53 50-56   yes   yes
82. GE_case672 FMR1 (XR) female intermediate intermediate intermediate 9 55 200 23 60 23 23-23 57 50-65   yes   yes
83. GE_case622 FMR1 (XR) female intermediate intermediate intermediate 11 55 200 30 59 30 30-30 57 50-65   yes   yes
84. GE_case674 FMR1 (XR) female normal intermediate intermediate 1 55 200 29 55 30 30-30 57 50-65   no   no
85. GE_case630 FMR1 (XR) female normal intermediate intermediate 5 55 200 33 42 33 33-33 57 50-65   no   no
86. GE_case645 FMR1 (XR) female intermediate intermediate intermediate 10 55 200 22 61 23 23-23 60 50-68   yes   yes
87. GE_case640 FMR1 (XR) female intermediate intermediate intermediate 10 55 200 30 65 30 30-30 60 50-69   yes   yes
88. GE_case703 FXN (AR) male double-expansion double-expansion double-expansion 11 44 66 expanded expanded 79 50-101 108 63-150   yes   yes
89. GE_case710 FXN (AR) female full-expansion full-expansion full-expansion 12 44 66 140 150 36 36-36 120 93-144   yes   yes
90. GE_case713 FXN (AR) female double-expansion double-expansion double-expansion 11 44 66 150 1000 90 50-130 140 84-197   yes   yes
91. GE_case712 FXN (AR) female full-expansion full-expansion full-expansion 11 44 66 140 150 33 33-33 143 119-165   yes   yes
92. GE_case711 FXN (AR) female double-expansion double-expansion double-expansion 11 44 66 600 600 107 50-104 77 65-149   yes   yes
93. GE_case764 HTT (AD) female full-expansion full-expansion full-expansion 12 35 40 21 63 21 21-21 107 78-132   yes   yes
94. GE_case717 HTT (AD) male normal normal normal 12 35 40 18 27 18 18-18 24 18-38   yes   yes
95. GE_case754 HTT (AD) male intermediate intermediate intermediate 11 35 40 15 36 15 15-15 36 36-36   yes   yes
96. GE_case771 HTT (AD) female normal intermediate intermediate 1 35 40 18 35 18 18-18 36 36-36   no   no
97. GE_case767 HTT (AD) female full-expansion full-expansion full-expansion 12 35 40 18 42 17 17-17 41 17-50   yes   yes
98. GE_case788 HTT (AD) female full-expansion full-expansion full-expansion 12 35 40 17 42 17 17-17 43 17-50   yes   yes
99. GE_case787 HTT (AD) female full-expansion full-expansion full-expansion 11 35 40 17 42 19 19-19 43 19-50   yes   yes
100. GE_case762 HTT (AD) female full-expansion full-expansion full-expansion 12 35 40 21 44 21 21-21 44 21-47   yes   yes
101. GE_case729 HTT (AD) female full-expansion full-expansion full-expansion 9 35 40 20 45 20 20-20 46 42-50   yes   yes
102. GE_case755 HTT (AD) male normal full-expansion normal 7 35 40 18 18 18 18-18 52 50-54   no   yes
103. GE_case734 HTT (AD) female full-expansion full-expansion full-expansion 12 35 40 22 45 22 22-22 53 50-56   yes   yes
104. GE_case790 HTT (AD) male full-expansion full-expansion full-expansion 12 35 40 17 97 17 17-17 95 69-118   yes   yes
105. GE_case791 PPP2R2B (AD) female full-expansion full-expansion full-expansion 12 32 51 13 59 15 15-15 59 50-68   yes   yes
106. GE_case792 PPP2R2B (AD) male intermediate full-expansion full-expansion 0 32 51 11 47 13 13-13 60 50-67   no   no
107. GE_case806 TBP (AD) female normal normal normal 12 41 49 38 38 34 34-42 34 34-42   yes   yes
108. GE_case818 TBP (AD) female normal normal normal 12 41 49 34 38 34 34-42 34 34-42   yes   yes
109. GE_case825 TBP (AD) female normal normal normal 12 41 49 26 35 34 31-42 34 31-42   yes   yes
110. GE_case823 TBP (AD) male normal normal normal 12 41 49 35 37 35 33-42 35 33-42   yes   yes
111. GE_case797 TBP (AD) male normal normal normal 12 41 49 38 39 36 35-42 36 35-42   yes   yes
112. GE_case800 TBP (AD) male normal normal normal 12 41 49 35 37 36 35-42 36 35-42   yes   yes
113. GE_case807 TBP (AD) male normal normal normal 12 41 49 36 38 36 36-42 36 36-42   yes   yes
114. GE_case817 TBP (AD) male normal normal normal 12 41 49 39 40 36 35-42 36 35-42   yes   yes
115. GE_case819 TBP (AD) female normal normal normal 12 41 49 34 37 36 33-42 36 33-42   yes   yes
116. GE_case794 TBP (AD) female normal normal normal 12 41 49 37 37 37 35-42 37 35-42   yes   yes
117. GE_case802 TBP (AD) male normal normal normal 12 41 49 37 38 37 36-42 37 36-42   yes   yes
118. GE_case815 TBP (AD) female normal normal normal 12 41 49 37 38 37 35-42 37 35-42   yes   yes
119. GE_case861 TBP (AD) male normal normal normal 12 41 49 37 39 35 35-35 38 35-48   yes   yes
120. GE_case865 TBP (AD) female normal normal normal 12 41 49 37 39 35 35-35 38 35-47   yes   yes
121. GE_case838 TBP (AD) male normal normal normal 12 41 49 35 37 36 34-34 38 34-43   yes   yes
122. GE_case803 TBP (AD) male normal normal normal 12 41 49 35 38 38 36-42 38 36-42   yes   yes
123. GE_case812 TBP (AD) male normal normal normal 12 41 49 31 37 38 36-42 38 36-42   yes   yes
124. GE_case821 TBP (AD) male normal normal normal 12 41 49 37 37 38 37-42 38 37-42   yes   yes
125. GE_case805 TBP (AD) female normal normal normal 12 41 49 36 39 39 37-42 39 37-42   yes   yes
126. GE_case859 TBP (AD) male intermediate normal normal 1 41 49 38 42 37 37-37 40 37-42   no   no
127. GE_case850 TBP (AD) female intermediate normal normal 1 41 49 37 42 35 35-35 41 35-47   no   no
128. GE_case857 TBP (AD) female intermediate intermediate intermediate 6 41 49 36 42 36 35-35 42 41-41   yes   yes
129. GE_case852 TBP (AD) male normal intermediate normal 6 41 49 37 38 37 37-37 43 37-43   no   yes
130. GE_case860 TBP (AD) female intermediate intermediate intermediate 12 41 49 38 44 38 37-37 43 43-43   yes   yes
131. GE_case851 TBP (AD) female intermediate intermediate intermediate 12 41 49 36 47 35 35-35 45 35-47   yes   yes
132. GE_case849 TBP (AD) female full-expansion full-expansion full-expansion 10 41 49 38 52 37 37-37 52 50-54   yes   yes
133. GE_case867 TBP (AD) female full-expansion full-expansion full-expansion 12 41 49 normal expanded 35 35-35 58 50-66   yes   yes