chrom
stringclasses 24
values | pos
int64 10.2k
249M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 4
values | source
stringclasses 4
values | consequence
stringlengths 9
465
| id
stringlengths 1
7
⌀ | review_status
stringclasses 5
values | GENOMIC_MUTATION_ID
stringlengths 12
12
⌀ | n_samples
float64 44
1.46k
⌀ | total_samples
float64 43.2k
43.2k
⌀ | freq
float64 0
0.03
⌀ | OMIM
stringlengths 3
10
⌀ | Gene
stringlengths 2
8
⌀ | PMID
float64 1.37M
26.6M
⌀ | AC
float64 1
152k
⌀ | AN
float64 140k
152k
⌀ | AF
float64 0
1
⌀ | MAF
float64 0
0.5
⌀ | MAC
float64 1
76.1k
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X | 154,966,654 | C | G | Pathogenic | ClinVar | missense_variant | 10202 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,664 | C | A | Pathogenic | ClinVar | missense_variant | 10142 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,966,677 | T | G | Pathogenic | ClinVar | missense_variant | 627191 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,355 | A | G | Pathogenic | ClinVar | missense_variant | 10141 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,360 | A | G | Pathogenic | ClinVar | missense_variant | 10199 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,400 | T | C | Pathogenic | ClinVar | missense_variant | 10197 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,405 | A | G | Pathogenic | ClinVar | missense_variant | 10196 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,417 | G | A | Pathogenic | ClinVar | missense_variant | 10195 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,438 | C | A | Pathogenic | ClinVar | missense_variant | 10193 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,438 | C | T | Pathogenic | ClinVar | missense_variant | 10192 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,444 | T | A | Pathogenic | ClinVar | missense_variant | 10191 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,459 | G | A | Pathogenic | ClinVar | missense_variant | 10190 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,468 | T | C | Pathogenic | ClinVar | missense_variant | 10099 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,469 | C | T | Pathogenic | ClinVar | missense_variant | 2428502 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,486 | A | C | Pathogenic | ClinVar | missense_variant | 10189 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,969,508 | C | T | Pathogenic | ClinVar | missense_variant | 10187 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,984,708 | A | T | Pathogenic | ClinVar | missense_variant | 618107 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,984,714 | T | C | Pathogenic | ClinVar | missense_variant | 1330606 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,987,237 | C | A | Pathogenic | ClinVar | missense_variant | 10180 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,987,242 | T | A | Pathogenic | ClinVar | missense_variant | 10179 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,992,962 | A | G | Pathogenic | ClinVar | missense_variant | 618637 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,992,971 | G | A | Pathogenic | ClinVar | missense_variant | 10129 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,992,983 | T | G | Pathogenic | ClinVar | missense_variant | 10178 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,992,996 | C | T | Pathogenic | ClinVar | missense_variant | 10177 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,993,046 | C | A | Pathogenic | ClinVar | missense_variant | 10175 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,993,127 | G | A | Pathogenic | ClinVar | missense_variant | 10174 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,993,133 | T | C | Pathogenic | ClinVar | missense_variant | 10173 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,993,139 | T | C | Pathogenic | ClinVar | missense_variant | 10172 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,996,973 | C | G | Pathogenic | ClinVar | missense_variant | 10170 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,011 | A | C | Pathogenic | ClinVar | missense_variant | 10169 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,033 | T | C | Pathogenic | ClinVar | missense_variant | 10168 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,038 | T | G | Pathogenic | ClinVar | missense_variant | 10167 | criteria_provided,_multiple_submitters,_no_conflicts | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,050 | A | T | Pathogenic | ClinVar | missense_variant | 10166 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,059 | T | C | Pathogenic | ClinVar | missense_variant | 812076 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,065 | A | G | Pathogenic | ClinVar | missense_variant | 993612 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,065 | A | T | Pathogenic | ClinVar | missense_variant | 10165 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,086 | C | A | Pathogenic | ClinVar | missense_variant | 10164 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 154,997,095 | C | T | Pathogenic | ClinVar | missense_variant | 10163 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,022,432 | C | A | Pathogenic | ClinVar | missense_variant | 10156 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,022,449 | T | C | Pathogenic | ClinVar | missense_variant | 10352 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,022,464 | T | A | Pathogenic | ClinVar | missense_variant | 10154 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,022,476 | A | C | Pathogenic | ClinVar | missense_variant | 10153 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,022,664 | C | T | Pathogenic | OMIM | 5’ UTR Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 16,972,227 | null | null | null | null | null |
X | 155,022,770 | A | G | Pathogenic | OMIM | Promoter Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 24,372,689 | null | null | null | null | null |
X | 155,022,771 | G | A | Pathogenic | OMIM | 5’ UTR Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 16,972,227 | null | null | null | null | null |
X | 155,022,773 | A | T | Pathogenic | OMIM | Promoter Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 24,372,689 | null | null | null | null | null |
X | 155,022,807 | T | C | Pathogenic | OMIM | Promoter Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 22,136,525 | null | null | null | null | null |
X | 155,022,809 | A | C | Pathogenic | OMIM | Promoter Mutations | null | null | null | null | null | null | MIM 306700 | F8 | 19,422,439 | null | null | null | null | null |
X | 155,260,871 | C | T | Pathogenic | ClinVar | missense_variant | 218362 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,260,942 | G | T | Pathogenic | ClinVar | missense_variant | 156532 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
X | 155,264,287 | A | G | Pathogenic | ClinVar | initiatior_codon_variant,missense_variant | 489029 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,207 | G | A | Pathogenic | ClinVar | missense_variant | 9752 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,224 | T | A | Pathogenic | ClinVar | missense_variant | 9756 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,224 | T | C | Pathogenic | ClinVar | missense_variant | 470196 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,267 | C | T | Pathogenic | ClinVar | missense_variant | 9744 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,278 | A | G | Pathogenic | ClinVar | missense_variant | 9738 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,287 | T | A | Pathogenic | ClinVar | missense_variant | 9742 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,320 | C | T | Pathogenic | ClinVar | missense_variant | 9755 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,321 | C | G | Pathogenic | ClinVar | missense_variant | 9750 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,334 | G | C | Pathogenic | ClinVar | missense_variant | 9741 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,401 | A | G | Pathogenic | ClinVar | missense_variant | 9746 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,412 | C | T | Pathogenic | ClinVar | missense_variant | 9747 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,426 | C | G | Pathogenic | ClinVar | missense_variant | 9739 | criteria_provided,_single_submitter | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,515 | C | A | Pathogenic | ClinVar | missense_variant | 492908 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,551 | C | T | Pathogenic | ClinVar | missense_variant | 9754 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
Y | 2,787,678 | C | T | Pathogenic | OMIM | Enhancer Mutations | null | null | null | null | null | null | MIM 400044 | SRY | 9,452,083 | null | null | null | null | null |
Y | 7,063,898 | A | T | Pathogenic | ClinVar | missense_variant | 625467 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |