chrom stringclasses 21
values | pos int64 726k 195M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | consequence stringclasses 11
values | pcr_confirmed bool 2
classes | __index_level_0__ int64 0 504k |
|---|---|---|---|---|---|---|---|
5 | 100,186,684 | A | G | true | missense | false | 100 |
5 | 140,892,504 | C | T | true | stop_gained | false | 101 |
9 | 3,025,870 | A | C | true | stop_gained | false | 102 |
4 | 147,839,861 | C | G | true | missense | false | 103 |
2 | 11,769,016 | C | T | true | missense | false | 104 |
14 | 44,160,423 | C | T | true | missense | false | 105 |
12 | 52,144,664 | G | T | true | stop_gained | false | 106 |
7 | 127,405,469 | G | A | true | missense | false | 107 |
11 | 99,240,313 | G | T | true | missense | false | 108 |
15 | 100,857,545 | C | T | true | missense | false | 109 |
12 | 104,740,690 | C | T | true | missense | false | 110 |
5 | 75,813,482 | C | T | true | missense | false | 111 |
7 | 55,742,461 | G | A | true | missense | false | 112 |
7 | 97,746,695 | C | T | true | missense | false | 113 |
11 | 108,833,460 | T | A | true | missense | false | 114 |
11 | 107,577,621 | T | C | true | missense | false | 115 |
11 | 115,971,332 | T | G | true | missense | false | 116 |
7 | 27,995,890 | C | T | true | missense | false | 117 |
8 | 124,134,522 | G | A | true | missense | false | 119 |
13 | 38,365,099 | G | A | true | missense | false | 120 |
12 | 84,199,230 | G | A | true | missense | false | 123 |
2 | 35,066,247 | A | G | true | missense | false | 124 |
9 | 44,161,188 | A | G | true | missense | false | 125 |
X | 7,535,224 | G | A | true | missense | false | 126 |
15 | 8,123,235 | C | A | true | missense | false | 127 |
5 | 113,900,938 | G | A | true | missense | false | 128 |
7 | 32,141,206 | C | T | true | missense | false | 130 |
X | 73,067,137 | C | T | true | missense | false | 131 |
12 | 85,878,722 | T | G | true | missense | false | 132 |
13 | 19,026,347 | T | C | true | missense | false | 133 |
2 | 128,475,370 | A | T | true | missense | false | 134 |
15 | 54,616,297 | T | C | true | missense | false | 135 |
16 | 48,109,381 | C | T | true | 3_prime_UTR | false | 136 |
2 | 156,382,362 | G | A | true | missense | false | 137 |
4 | 114,470,745 | T | A | true | stop_gained | false | 138 |
2 | 26,993,212 | G | A | true | 3_prime_UTR | false | 139 |
2 | 64,929,678 | C | T | true | missense | false | 140 |
2 | 174,141,888 | G | A | true | splice_donor_region | false | 141 |
2 | 62,533,359 | G | T | true | splice_donor_region | false | 142 |
2 | 70,823,843 | C | T | true | missense | false | 143 |
3 | 62,512,451 | A | G | true | stop_gained | false | 144 |
3 | 88,239,869 | G | C | true | 3_prime_UTR | false | 145 |
15 | 74,543,004 | C | G | true | missense | false | 147 |
9 | 61,821,169 | C | T | true | missense | false | 148 |
13 | 94,311,036 | G | A | true | missense | false | 149 |
18 | 58,168,979 | A | G | true | missense | false | 150 |
18 | 76,947,840 | A | G | true | splice_polypyrimidine_tract | false | 151 |
18 | 76,947,846 | G | A | true | missense | false | 152 |
18 | 76,947,853 | C | G | true | synonymous | false | 153 |
11 | 115,160,288 | C | T | true | synonymous | false | 154 |
1 | 163,530,774 | C | T | true | missense | false | 155 |
11 | 115,223,001 | G | A | true | synonymous | false | 156 |
2 | 6,051,800 | G | A | true | missense | false | 157 |
2 | 91,322,989 | C | T | true | missense | false | 158 |
7 | 83,584,591 | A | G | true | missense | false | 159 |
7 | 3,871,732 | G | C | true | missense | false | 160 |
7 | 55,742,461 | G | A | true | missense | false | 161 |
7 | 143,221,133 | T | G | true | missense | false | 162 |
11 | 55,418,154 | C | T | true | missense | false | 163 |
8 | 112,716,892 | C | A | true | 3_prime_UTR | false | 165 |
4 | 11,365,452 | A | G | true | 3_prime_UTR | false | 167 |
4 | 136,381,374 | G | T | true | 3_prime_UTR | false | 168 |
6 | 64,372,279 | G | A | true | stop_gained | false | 169 |
7 | 19,121,275 | G | A | true | synonymous | false | 170 |
7 | 139,503,806 | G | C | true | missense | false | 171 |
7 | 18,408,306 | G | A | true | synonymous | false | 172 |
12 | 80,804,350 | C | T | true | missense | false | 173 |
12 | 85,522,524 | G | A | true | 5_prime_UTR | false | 174 |
12 | 80,989,597 | G | A | true | stop_gained | false | 175 |
12 | 83,597,537 | C | A | true | 3_prime_UTR | false | 176 |
6 | 29,450,697 | G | A | true | 3_prime_UTR | false | 177 |
11 | 105,072,615 | C | A | true | splice_donor | false | 178 |
11 | 105,072,617 | G | C | true | splice_donor | false | 179 |
11 | 105,072,618 | G | A | true | missense | false | 180 |
8 | 45,723,693 | C | A | true | missense | false | 181 |
8 | 79,236,303 | G | A | true | missense | false | 182 |
12 | 38,907,074 | C | T | true | missense | false | 183 |
18 | 45,725,104 | G | A | true | missense | false | 184 |
6 | 42,286,914 | T | A | true | missense | false | 185 |
15 | 81,773,629 | G | T | true | missense | false | 186 |
15 | 25,986,920 | G | A | true | 3_prime_UTR | false | 187 |
5 | 122,926,341 | C | A | true | missense | false | 188 |
5 | 123,941,771 | T | A | true | missense | false | 189 |
X | 163,727,205 | C | G | true | 3_prime_UTR | false | 190 |
10 | 84,615,875 | G | T | true | splice_donor_region | false | 192 |
11 | 71,109,042 | G | A | true | splice_donor_region | false | 193 |
11 | 71,171,984 | T | C | true | 3_prime_UTR | false | 194 |
11 | 68,276,085 | T | C | true | missense | false | 195 |
1 | 174,014,778 | T | G | true | stop_gained | false | 196 |
1 | 155,155,649 | A | C | true | synonymous | false | 197 |
1 | 155,155,650 | G | T | true | missense | false | 198 |
11 | 43,620,538 | T | G | true | missense | false | 199 |
4 | 141,204,410 | A | G | true | missense | false | 200 |
18 | 66,103,099 | T | A | true | 3_prime_UTR | false | 201 |
18 | 38,416,066 | A | G | true | missense | false | 202 |
18 | 61,445,322 | G | A | true | missense | false | 203 |
18 | 61,344,549 | G | A | true | missense | false | 204 |
18 | 20,595,443 | G | C | true | missense | false | 205 |
10 | 88,573,015 | A | T | true | missense | false | 206 |
11 | 71,063,193 | T | G | true | synonymous | false | 207 |
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