Variant |
Chrom |
Position |
Genes |
Protein Consequence |
Transcript Consequence |
Filter |
Annotation |
Exon Number |
Allele Count |
Allele Number |
Number of Homozygotes |
Number of Heterozygotes |
Allele Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12:21621891 T / C (rs7319) | 12 | 21621891 | PYROXD1 | , | c.*203T>C,ENST00000444129 | PASS | 3' UTR | 21 | 2404 | 10 | 1 | 0.008735 | |
| 12:21622022 AG / _ | 12 | 21622022 | PYROXD1 | , | c.*335_*336delGA,ENST00000444129 | PASS | 3' UTR | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21622309 T / _ (rs1004442998) | 12 | 21622309 | PYROXD1 | , | c.*633delT,ENST00000444129 | PASS | 3' UTR | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21622375 TTC / _ (rs200789657) | 12 | 21622375 | PYROXD1 | , | c.*693_*695delTTC,ENST00000444129 | PASS | 3' UTR | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21622449 C / _ (rs150249998) | 12 | 21622449 | PYROXD1 | , | c.*761delC,ENST00000444129 | PASS | 3' UTR | 27 | 2404 | 13 | 1 | 0.01123 | |
| 12:21622621 T / _ (rs201322313) | 12 | 21622621 | PYROXD1 | , | c.*942delT,ENST00000444129 | PASS | 3' UTR | 22 | 2404 | 11 | 0 | 0.009151 | |
| 12:21622692 C / A | 12 | 21622692 | PYROXD1 | , | c.*1004C>A,ENST00000444129 | PASS | 3' UTR | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21622695 A / G (rs1138675) | 12 | 21622695 | PYROXD1 | , | c.*1007A>G,ENST00000444129 | PASS | 3' UTR | 48 | 2404 | 24 | 0 | 0.01997 | |
| 12:21622822 T / C (rs71582885) | 12 | 21622822 | PYROXD1 | , | c.*1134T>C,ENST00000421138 | PASS | 3' UTR | 7 | 2404 | 3 | 1 | 0.002912 | |
| 12:21623122 T / G (rs13035) | 12 | 21623122 | PYROXD1 | , | c.*1434T>G,ENST00000421138 | PASS | 3' UTR | 857 | 2404 | 179 | 499 | 0.3565 | |
| 12:21623179 T / C (rs17849408) | 12 | 21623179 | PYROXD1 | ,p.Gln633= | c.*1491T>C,ENST00000421138 | PASS | 3' UTR | 280 | 2404 | 23 | 234 | 0.1165 | |
| 12:21623284 C / A (rs557749011) | 12 | 21623284 | PYROXD1 | , | c.*1596C>A,ENST00000421138 | PASS | 3' UTR | 27 | 2404 | 1 | 25 | 0.01123 | |
| 12:21623285 A / _ (rs368017481) | 12 | 21623285 | PYROXD1 | , | c.*1612delA,ENST00000421138 | PASS | 3' UTR | 13 | 2404 | 2 | 9 | 0.005408 | |
| 12:21623298 A / T (rs577735412) | 12 | 21623298 | PYROXD1 | , | c.*1610A>T,ENST00000421138 | PASS | 3' UTR | 78 | 2404 | 10 | 58 | 0.03245 | |
| 12:21623406 C / A | 12 | 21623406 | RECQL | c.1798-126G>T | PASS | intron | 16 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21623511 A / G (rs71530950) | 12 | 21623511 | RECQL | c.1798-231T>C | PASS | intron | 16 | 13 | 2404 | 5 | 3 | 0.005408 | |
| 12:21623886 AATT / _ (rs71582883) | 12 | 21623886 | RECQL | c.1797+14_1797+17delAATT | PASS | intron | 15 | 173 | 2404 | 21 | 131 | 0.07196 | |
| 12:21623894 G / C | 12 | 21623894 | RECQL | c.1797+9C>G | PASS | intron | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21623951 T / C | 12 | 21623951 | RECQL | p.Ala583= | c.1749A>G | PASS | synonymous | 15 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21623969 A / G (rs6500) | 12 | 21623969 | RECQL | p.Asn577= | c.1731T>C | PASS | synonymous | 15 | 296 | 2404 | 22 | 252 | 0.1231 |
| 12:21624014 T / C | 12 | 21624014 | RECQL | p.Thr562= | c.1686A>G | PASS | synonymous | 15 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21624056 T / C (rs200994206) | 12 | 21624056 | RECQL | c.1668-24A>G | PASS | intron | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21624113 C / T (rs74067192) | 12 | 21624113 | RECQL | c.1668-81G>A | PASS | intron | 15 | 27 | 2404 | 2 | 23 | 0.01123 | |
| 12:21624197 TTTTT / _ (rs959464763) | 12 | 21624197 | RECQL | c.1667+161_1668-165delAAAAA | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21624224 TGAG / _ (rs1209015909) | 12 | 21624224 | RECQL | c.1667+135_1667+138delCTCA | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21624232 T / C (rs142491494) | 12 | 21624232 | RECQL | c.1667+130A>G | PASS | intron | 14 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21624309 A / _ (rs56736899) | 12 | 21624309 | RECQL | c.1667+53delT | PASS | intron | 14 | 919 | 2404 | 200 | 519 | 0.3823 | |
| 12:21624309 A / T (rs11046076) | 12 | 21624309 | RECQL | c.1667+53T>A | PASS | intron | 14 | 859 | 2190 | 180 | 499 | 0.3922 | |
| 12:21624378 T / C (rs767718965) | 12 | 21624378 | RECQL | p.Ile551Val | c.1651A>G | PASS | missense | 14 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21624439 T / C (rs71581968) | 12 | 21624439 | RECQL | p.Ala530= | c.1590A>G | PASS | synonymous | 14 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21624495 G / C | 12 | 21624495 | RECQL | p.Pro512Ala | c.1534C>G | PASS | missense | 14 | 2 | 2404 | 0 | 2 | 0.0008319 |
| 12:21624546 C / G (rs6499) | 12 | 21624546 | RECQL | p.Asp495His | c.1483G>C | PASS | missense | 14 | 4 | 2404 | 0 | 4 | 0.001664 |
| 12:21624564 T / C (rs146077019) | 12 | 21624564 | RECQL | p.Ile489Val | c.1465A>G | PASS | missense | 14 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21624593 C / T (rs748208545) | 12 | 21624593 | RECQL | c.1448-12G>A | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21624599 T / C (rs772507139) | 12 | 21624599 | RECQL | c.1448-18A>G | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21624695 A / _ (rs6413513) | 12 | 21624695 | RECQL | c.1448-114delT | PASS | intron | 14 | 150 | 2404 | 39 | 72 | 0.06240 | |
| 12:21624733 GCTATT / _ (rs58382074) | 12 | 21624733 | RECQL | c.1448-157_1448-152delAATAGC | PASS | intron | 14 | 80 | 2404 | 31 | 18 | 0.03328 | |
| 12:21625405 G / A (rs117445417) | 12 | 21625405 | RECQL | c.1448-824C>T | PASS | intron | 14 | 18 | 2404 | 7 | 4 | 0.007488 | |
| 12:21625497 A / G (rs10841830) | 12 | 21625497 | RECQL | c.1448-916T>C | PASS | intron | 14 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21625567 T / C (rs76460168) | 12 | 21625567 | RECQL | c.1447+918A>G | PASS | intron | 13 | 16 | 2404 | 8 | 0 | 0.006656 | |
| 12:21626152 A / T (rs11611002) | 12 | 21626152 | RECQL | c.1447+333T>A | PASS | intron | 13 | 81 | 2404 | 40 | 1 | 0.03369 | |
| 12:21626168 C / T (rs12371829) | 12 | 21626168 | RECQL | c.1447+317G>A | PASS | intron | 13 | 38 | 2404 | 16 | 6 | 0.01581 | |
| 12:21626287 G / A (rs917851) | 12 | 21626287 | RECQL | c.1447+198C>T | PASS | intron | 13 | 422 | 2404 | 75 | 272 | 0.1755 | |
| 12:21626324 A / C (rs917852) | 12 | 21626324 | RECQL | c.1447+161T>G | PASS | intron | 13 | 2387 | 2404 | 1192 | 3 | 0.9929 | |
| 12:21626330 C / A (rs917853) | 12 | 21626330 | RECQL | c.1447+155G>T | PASS | intron | 13 | 2394 | 2404 | 1197 | 0 | 0.9958 | |
| 12:21626944 T / C (rs10160932) | 12 | 21626944 | RECQL | c.1356-368A>G | PASS | intron | 13 | 63 | 2404 | 31 | 1 | 0.02621 | |
| 12:21627193 A / T (rs10161130) | 12 | 21627193 | RECQL | c.1355+582T>A | PASS | intron | 12 | 45 | 2404 | 22 | 1 | 0.01872 | |
| 12:21627287 A / G (rs10161132) | 12 | 21627287 | RECQL | c.1355+488T>C | PASS | intron | 12 | 90 | 2404 | 42 | 6 | 0.03744 | |
| 12:21627525 C / T (rs10492116) | 12 | 21627525 | RECQL | c.1355+250G>A | PASS | intron | 12 | 16 | 2404 | 7 | 2 | 0.006656 | |
| 12:21627557 A / C (rs997820) | 12 | 21627557 | RECQL | c.1355+218T>G | PASS | intron | 12 | 236 | 2404 | 97 | 42 | 0.09817 | |
| 12:21627581 A / G (rs17626852) | 12 | 21627581 | RECQL | c.1355+194T>C | PASS | intron | 12 | 7 | 2404 | 2 | 3 | 0.002912 | |
| 12:21627668 T / C | 12 | 21627668 | RECQL | c.1355+107A>G | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21627672 C / G (rs35159698) | 12 | 21627672 | RECQL | c.1355+103G>C | PASS | intron | 12 | 910 | 2404 | 224 | 462 | 0.3785 | |
| 12:21627738 T / G | 12 | 21627738 | RECQL | c.1355+37A>C | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21627745 A / G (rs2159943) | 12 | 21627745 | RECQL | c.1355+30T>C | PASS | intron | 12 | 1018 | 2404 | 221 | 576 | 0.4235 | |
| 12:21628100 T / A (rs141498789) | 12 | 21628100 | RECQL | c.1217-187A>T | PASS | intron | 12 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21628218 A / G | 12 | 21628218 | RECQL | c.1216+184T>C | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21628229 C / A | 12 | 21628229 | RECQL | c.1216+173G>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21628255 A / G (rs150881760) | 12 | 21628255 | RECQL | c.1216+147T>C | PASS | intron | 11 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21628320 C / T (rs10841831) | 12 | 21628320 | RECQL | c.1216+82G>A | PASS | intron | 11 | 960 | 2404 | 220 | 520 | 0.3993 | |
| 12:21628324 C / T (rs534000298) | 12 | 21628324 | RECQL | c.1216+78G>A | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21628336 G / A (rs10841832) | 12 | 21628336 | RECQL | c.1216+66C>T | PASS | intron | 11 | 991 | 2404 | 225 | 541 | 0.4122 | |
| 12:21628397 C / G | 12 | 21628397 | RECQL | c.1216+5G>C | PASS | splice region | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21628408 G / A (rs780808359) | 12 | 21628408 | RECQL | p.Arg404Cys | c.1210C>T | PASS | missense | 11 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21628478 C / T (rs201739350) | 12 | 21628478 | RECQL | p.Lys380= | c.1140G>A | PASS | synonymous | 11 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21628549 T / A (rs1370322268) | 12 | 21628549 | RECQL | c.1099-30A>T | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21628620 T / C (rs138663409) | 12 | 21628620 | RECQL | p.Asn363Ser | c.1088A>G | PASS | missense | 10 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21628648 T / G (rs778812336) | 12 | 21628648 | RECQL | p.Thr354Pro | c.1060A>C | PASS | missense | 10 | 2 | 2404 | 0 | 2 | 0.0008319 |
| 12:21628791 T / C (rs3752648) | 12 | 21628791 | RECQL | c.950-33A>G | PASS | intron | 10 | 1075 | 2404 | 241 | 593 | 0.4472 | |
| 12:21628812 G / A (rs10160843) | 12 | 21628812 | RECQL | c.950-54C>T | PASS | intron | 10 | 2399 | 2404 | 1198 | 3 | 0.9979 | |
| 12:21628838 T / C (rs543555228) | 12 | 21628838 | RECQL | c.950-80A>G | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21629313 T / C (rs1029931) | 12 | 21629313 | RECQL | c.949+532A>G | PASS | intron | 9 | 26 | 2404 | 12 | 2 | 0.01082 | |
| 12:21629655 T / C (rs2159944) | 12 | 21629655 | RECQL | c.949+190A>G | PASS | intron | 9 | 173 | 2404 | 49 | 75 | 0.07196 | |
| 12:21629676 C / A (rs73249910) | 12 | 21629676 | RECQL | c.949+169G>T | PASS | intron | 9 | 93 | 2404 | 13 | 67 | 0.03869 | |
| 12:21629722 T / C | 12 | 21629722 | RECQL | c.949+123A>G | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21629732 T / C (rs3759232) | 12 | 21629732 | RECQL | c.949+113A>G | PASS | intron | 9 | 8 | 2404 | 0 | 8 | 0.003328 | |
| 12:21629742 T / _ (rs537129509) | 12 | 21629742 | RECQL | c.949+103delA | PASS | intron | 9 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21629754 T / C (rs1395049666) | 12 | 21629754 | RECQL | c.949+91A>G | PASS | intron | 9 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21629769 T / C (rs73082666) | 12 | 21629769 | RECQL | c.949+76A>G | PASS | intron | 9 | 79 | 2404 | 4 | 71 | 0.03286 | |
| 12:21629892 A / G | 12 | 21629892 | RECQL | p.Ile301Thr | c.902T>C | PASS | missense | 9 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21629896 A / T (rs142858580) | 12 | 21629896 | RECQL | p.Phe300Ile | c.898T>A | PASS | missense | 9 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21629928 T / C (rs571176607) | 12 | 21629928 | RECQL | c.868-2A>G | PASS | splice acceptor | 9 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21629987 T / C (rs917854) | 12 | 21629987 | RECQL | c.868-61A>G | PASS | intron | 9 | 2395 | 2404 | 1194 | 7 | 0.9963 | |
| 12:21629988 G / A (rs1377016911) | 12 | 21629988 | RECQL | c.868-62C>T | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21629994 _ / C (rs5796903) | 12 | 21629994 | RECQL | c.868-68dupG | PASS | intron | 9 | 1070 | 2404 | 241 | 588 | 0.4451 | |
| 12:21630015 A / G (rs3759233) | 12 | 21630015 | RECQL | c.868-89T>C | PASS | intron | 9 | 12 | 2404 | 0 | 12 | 0.004992 | |
| 12:21630044 C / T (rs115618231) | 12 | 21630044 | RECQL | c.868-118G>A | PASS | intron | 9 | 4 | 2404 | 0 | 4 | 0.001664 | |
| 12:21630073 C / T (rs1283647815) | 12 | 21630073 | RECQL | c.868-147G>A | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21630122 A / _ (rs1233245754) | 12 | 21630122 | RECQL | c.868-196delT | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21630123 A / C (rs934445664) | 12 | 21630123 | RECQL | c.868-197T>G | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21630146 A / G (rs917855) | 12 | 21630146 | RECQL | c.868-220T>C | PASS | intron | 9 | 345 | 2404 | 124 | 97 | 0.1435 | |
| 12:21630191 G / A (rs117723987) | 12 | 21630191 | RECQL | c.868-265C>T | PASS | intron | 9 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21630449 T / C (rs74067201) | 12 | 21630449 | RECQL | c.867+288A>G | PASS | intron | 8 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21630717 T / C (rs747354374) | 12 | 21630717 | RECQL | c.867+20A>G | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21630721 C / T | 12 | 21630721 | RECQL | c.867+16G>A | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21630771 G / C (rs372732456) | 12 | 21630771 | RECQL | p.Thr278Arg | c.833C>G | PASS | missense | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630783 C / T (rs778241738) | 12 | 21630783 | RECQL | p.Cys274Tyr | c.821G>A | PASS | missense | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630794 G / C (rs1943115313) | 12 | 21630794 | RECQL | p.Cys270Trp | c.810C>G | PASS | missense | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630810 G / A | 12 | 21630810 | RECQL | p.Ala265Val | c.794C>T | PASS | missense | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630815 C / T (rs774302679) | 12 | 21630815 | RECQL | p.Thr263= | c.789G>A | PASS | synonymous | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630869 G / A (rs948132339) | 12 | 21630869 | RECQL | p.Phe245= | c.735C>T | PASS | synonymous | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630886 T / C (rs372519604) | 12 | 21630886 | RECQL | p.Ile240Val | c.718A>G | PASS | missense | 8 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21630910 AAAC / _ (rs770192412) | 12 | 21630910 | RECQL | c.701-10_701-7delGTTT | PASS | splice region | 8 | 5 | 2404 | 1 | 3 | 0.002080 | |
| 12:21630917 C / G (rs778256014) | 12 | 21630917 | RECQL | c.701-14G>C | PASS | intron | 8 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21630921 G / A (rs71581966) | 12 | 21630921 | RECQL | c.701-18C>T | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21631934 G / A (rs2284392) | 12 | 21631934 | RECQL | c.701-1031C>T | PASS | intron | 8 | 270 | 2404 | 114 | 42 | 0.1123 | |
| 12:21631940 C / A | 12 | 21631940 | RECQL | c.701-1037G>T | PASS | intron | 8 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21631946 G / T | 12 | 21631946 | RECQL | c.701-1043C>A | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21631948 G / T | 12 | 21631948 | RECQL | c.701-1045C>A | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21631957 G / T | 12 | 21631957 | RECQL | c.701-1054C>A | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21631968 T / A | 12 | 21631968 | RECQL | c.701-1065A>T | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21632285 T / _ (rs11366827) | 12 | 21632285 | RECQL | c.701-1382delA | PASS | intron | 8 | 20 | 2404 | 9 | 2 | 0.008319 | |
| 12:21632285 TT / _ (rs11366827) | 12 | 21632285 | RECQL | c.701-1383_701-1382delAA | PASS | intron | 8 | 7 | 2404 | 2 | 3 | 0.002912 | |
| 12:21632439 G / A (rs1860946) | 12 | 21632439 | RECQL | c.701-1536C>T | PASS | intron | 8 | 310 | 2404 | 155 | 0 | 0.1290 | |
| 12:21632445 C / A (rs111853518) | 12 | 21632445 | RECQL | c.701-1542G>T | PASS | intron | 8 | 25 | 2404 | 11 | 3 | 0.01040 | |
| 12:21632448 G / T | 12 | 21632448 | RECQL | c.701-1545C>A | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21632475 C / T (rs111761217) | 12 | 21632475 | RECQL | c.701-1572G>A | PASS | intron | 8 | 36 | 2404 | 14 | 8 | 0.01498 | |
| 12:21632539 G / A (rs112163602) | 12 | 21632539 | RECQL | c.701-1636C>T | PASS | intron | 8 | 56 | 2404 | 19 | 18 | 0.02329 | |
| 12:21632567 G / A (rs189916616) | 12 | 21632567 | RECQL | c.701-1664C>T | PASS | intron | 8 | 4 | 2404 | 1 | 2 | 0.001664 | |
| 12:21632582 G / T (rs536603425) | 12 | 21632582 | RECQL | c.701-1679C>A | PASS | intron | 8 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21632583 A / G | 12 | 21632583 | RECQL | c.701-1680T>C | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21633036 C / T (rs2192170) | 12 | 21633036 | RECQL | c.701-2133G>A | PASS | intron | 8 | 19 | 2404 | 8 | 3 | 0.007903 | |
| 12:21633263 T / C | 12 | 21633263 | RECQL | c.701-2360A>G | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21633272 A / G | 12 | 21633272 | RECQL | c.701-2369T>C | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21633476 C / A | 12 | 21633476 | RECQL | c.701-2573G>T | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21633481 C / A | 12 | 21633481 | RECQL | c.701-2578G>T | PASS | intron | 8 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21633781 C / A | 12 | 21633781 | RECQL | c.700+2529G>T | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21633790 C / A | 12 | 21633790 | RECQL | c.700+2520G>T | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21633836 T / C (rs186636030) | 12 | 21633836 | RECQL | c.700+2474A>G | PASS | intron | 7 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21634061 G / A (rs1943184101) | 12 | 21634061 | RECQL | c.700+2249C>T | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21634067 T / C (rs9634095) | 12 | 21634067 | RECQL | c.700+2243A>G | PASS | intron | 7 | 240 | 2404 | 120 | 0 | 0.09983 | |
| 12:21634394 A / C (rs7307064) | 12 | 21634394 | RECQL | c.700+1916T>G | PASS | intron | 7 | 30 | 2404 | 15 | 0 | 0.01248 | |
| 12:21634497 G / C (rs7307519) | 12 | 21634497 | RECQL | c.700+1813C>G | PASS | intron | 7 | 14 | 2404 | 7 | 0 | 0.005824 | |
| 12:21634862 G / C (rs992458841) | 12 | 21634862 | RECQL | c.700+1448C>G | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21634865 G / C | 12 | 21634865 | RECQL | c.700+1445C>G | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21634891 A / T (rs11046078) | 12 | 21634891 | RECQL | c.700+1419T>A | PASS | intron | 7 | 137 | 2404 | 65 | 7 | 0.05699 | |
| 12:21635124 AAG / _ | 12 | 21635124 | RECQL | c.700+1184_700+1186delCTT | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21635202 _ / A (rs11451473) | 12 | 21635202 | RECQL | c.700+1108dupT | PASS | intron | 7 | 31 | 2404 | 15 | 1 | 0.01290 | |
| 12:21635202 _ / AA (rs11451473) | 12 | 21635202 | RECQL | c.700+1107_700+1108dupTT | PASS | intron | 7 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21635232 G / A (rs3213212) | 12 | 21635232 | RECQL | c.700+1078C>T | PASS | intron | 7 | 32 | 2404 | 16 | 0 | 0.01331 | |
| 12:21635605 G / A (rs7976409) | 12 | 21635605 | RECQL | c.700+705C>T | PASS | intron | 7 | 68 | 2404 | 31 | 6 | 0.02829 | |
| 12:21635617 T / C (rs1442226517) | 12 | 21635617 | RECQL | c.700+693A>G | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21635625 G / A (rs7976415) | 12 | 21635625 | RECQL | c.700+685C>T | PASS | intron | 7 | 72 | 2404 | 34 | 4 | 0.02995 | |
| 12:21635796 G / C (rs75943486) | 12 | 21635796 | RECQL | c.700+514C>G | PASS | intron | 7 | 17 | 2404 | 8 | 1 | 0.007072 | |
| 12:21635799 G / T | 12 | 21635799 | RECQL | c.700+511C>A | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21636008 T / _ (rs77123184) | 12 | 21636008 | RECQL | c.700+302delA | PASS | intron | 7 | 29 | 2404 | 13 | 3 | 0.01206 | |
| 12:21636366 C / T (rs561515655) | 12 | 21636366 | RECQL | p.Arg215Gln | c.644G>A | PASS | missense | 7 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21636438 G / T | 12 | 21636438 | RECQL | p.Pro191Gln | c.572C>A | PASS | missense | 7 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21636492 A / T (rs144313838) | 12 | 21636492 | RECQL | p.Val173Asp | c.518T>A | PASS | missense | 7 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21636522 A / C (rs201591997) | 12 | 21636522 | RECQL | c.502-14T>G | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21637225 G / T (rs10841833) | 12 | 21637225 | RECQL | c.502-717C>A | PASS | intron | 7 | 17 | 2404 | 8 | 1 | 0.007072 | |
| 12:21637624 C / T (rs73082674) | 12 | 21637624 | RECQL | c.502-1116G>A | PASS | intron | 7 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21637689 _ / AT (rs34914517) | 12 | 21637689 | RECQL | c.502-1182_502-1181dupAT | PASS | intron | 7 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21637689 AT / _ (rs34914517) | 12 | 21637689 | RECQL | c.502-1182_502-1181delAT | PASS | intron | 7 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21637964 A / C (rs7956315) | 12 | 21637964 | RECQL | c.501+1449T>G | PASS | intron | 6 | 19 | 2404 | 9 | 1 | 0.007903 | |
| 12:21638252 G / T (rs2215730) | 12 | 21638252 | RECQL | c.501+1161C>A | PASS | intron | 6 | 30 | 2404 | 14 | 2 | 0.01248 | |
| 12:21638259 G / T | 12 | 21638259 | RECQL | c.501+1154C>A | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21638265 A / _ (rs58749568) | 12 | 21638265 | RECQL | c.501+1148delT | PASS | intron | 6 | 38 | 2404 | 18 | 2 | 0.01581 | |
| 12:21638265 AA / _ (rs58749568) | 12 | 21638265 | RECQL | c.501+1147_501+1148delTT | PASS | intron | 6 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21638482 T / A (rs189990283) | 12 | 21638482 | RECQL | c.501+931A>T | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21638483 T / A (rs6487232) | 12 | 21638483 | RECQL | c.501+930A>T | PASS | intron | 6 | 34 | 2404 | 17 | 0 | 0.01414 | |
| 12:21638570 C / T (rs6487233) | 12 | 21638570 | RECQL | c.501+843G>A | PASS | intron | 6 | 30 | 2404 | 15 | 0 | 0.01248 | |
| 12:21638580 C / G (rs77678397) | 12 | 21638580 | RECQL | c.501+833G>C | PASS | intron | 6 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21639194 T / C (rs66935820) | 12 | 21639194 | RECQL | c.501+219A>G | PASS | intron | 6 | 80 | 2404 | 29 | 22 | 0.03328 | |
| 12:21639386 A / _ (rs369525826) | 12 | 21639386 | RECQL | c.501+27delT | PASS | intron | 6 | 514 | 2404 | 37 | 440 | 0.2138 | |
| 12:21639386 AA / _ (rs369525826) | 12 | 21639386 | RECQL | c.501+26_501+27delTT | PASS | intron | 6 | 14 | 2404 | 0 | 14 | 0.005824 | |
| 12:21639461 T / C (rs367652565) | 12 | 21639461 | RECQL | p.Leu151= | c.453A>G | PASS | synonymous | 6 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21639513 G / A (rs150306543) | 12 | 21639513 | RECQL | p.Thr134Ile | c.401C>T | PASS | missense | 6 | 9 | 2404 | 0 | 9 | 0.003744 |
| 12:21639528 _ / C | 12 | 21639528 | RECQL | c.395-9_395-8insG | PASS | intron | 6 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21639528 G / A (rs560242370) | 12 | 21639528 | RECQL | c.395-9C>T | PASS | intron | 6 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21639529 _ / A (rs10712738) | 12 | 21639529 | RECQL | c.395-10dupT | PASS | intron | 6 | 134 | 2404 | 10 | 114 | 0.05574 | |
| 12:21639529 _ / AA (rs10712738) | 12 | 21639529 | RECQL | c.395-11_395-10dupTT | PASS | intron | 6 | 5 | 2404 | 0 | 5 | 0.002080 | |
| 12:21639529 _ / AAAA (rs10712738) | 12 | 21639529 | RECQL | c.395-13_395-10dupTTTT | PASS | intron | 6 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21639529 A / _ (rs10712738) | 12 | 21639529 | RECQL | c.395-10delT | PASS | intron | 6 | 688 | 2404 | 107 | 474 | 0.2862 | |
| 12:21639572 T / C | 12 | 21639572 | RECQL | c.395-53A>G | PASS | intron | 6 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21639590 _ / C (rs1379528273) | 12 | 21639590 | RECQL | c.395-71dupG | PASS | intron | 6 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21639591 _ / CT (rs1565571187) | 12 | 21639591 | RECQL | c.395-72_395-71insAG | PASS | intron | 6 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21639591 G / _ (rs869067891) | 12 | 21639591 | RECQL | c.395-72delC | PASS | intron | 6 | 16 | 2404 | 7 | 2 | 0.006656 | |
| 12:21639591 G / C (rs7964104) | 12 | 21639591 | RECQL | c.395-72C>G | PASS | intron | 6 | 1291 | 2401 | 645 | 3 | 0.5377 | |
| 12:21639591 G / T (rs7964104) | 12 | 21639591 | RECQL | c.395-72C>A | PASS | intron | 6 | 11 | 2403 | 5 | 1 | 0.004578 | |
| 12:21639591 GT / _ (rs869129453) | 12 | 21639591 | RECQL | c.395-73_395-72delAC | PASS | intron | 6 | 27 | 2404 | 12 | 3 | 0.01123 | |
| 12:21639591 GTT / _ (rs1555146282) | 12 | 21639591 | RECQL | c.395-74_395-72delAAC | PASS | intron | 6 | 28 | 2404 | 13 | 2 | 0.01165 | |
| 12:21639591 GTTT / _ (rs1422664786) | 12 | 21639591 | RECQL | c.395-75_395-72delAAAC | PASS | intron | 6 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21639591 GTTTT / _ (rs1943307224) | 12 | 21639591 | RECQL | c.395-76_395-72delAAAAC | PASS | intron | 6 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21639592 T / C (rs1369328186) | 12 | 21639592 | RECQL | c.395-73A>G | PASS | intron | 6 | 18 | 2403 | 7 | 4 | 0.007491 | |
| 12:21639593 T / C (rs1174998398) | 12 | 21639593 | RECQL | c.395-74A>G | PASS | intron | 6 | 27 | 2403 | 12 | 3 | 0.01124 | |
| 12:21639594 T / C (rs1175452105) | 12 | 21639594 | RECQL | c.395-75A>G | PASS | intron | 6 | 27 | 2404 | 12 | 3 | 0.01123 | |
| 12:21639595 T / C (rs1461525348) | 12 | 21639595 | RECQL | c.395-76A>G | PASS | intron | 6 | 10 | 2404 | 4 | 2 | 0.004160 | |
| 12:21639596 T / C (rs1166266172) | 12 | 21639596 | RECQL | c.395-77A>G | PASS | intron | 6 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21639864 C / T (rs113350855) | 12 | 21639864 | RECQL | c.395-345G>A | PASS | intron | 6 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21640041 _ / AAAC (rs10645224) | 12 | 21640041 | RECQL | c.395-525_395-522dupGTTT | PASS | intron | 6 | 152 | 2404 | 76 | 0 | 0.06323 | |
| 12:21640046 T / A (rs74069247) | 12 | 21640046 | RECQL | c.395-527A>T | PASS | intron | 6 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21640214 T / G (rs17627102) | 12 | 21640214 | RECQL | c.395-695A>C | PASS | intron | 6 | 16 | 2404 | 8 | 0 | 0.006656 | |
| 12:21640314 G / A (rs11612017) | 12 | 21640314 | RECQL | c.395-795C>T | PASS | intron | 6 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21640469 G / T | 12 | 21640469 | RECQL | c.395-950C>A | PASS | intron | 6 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21640745 C / T (rs58036138) | 12 | 21640745 | RECQL | c.395-1226G>A | PASS | intron | 6 | 18 | 2404 | 8 | 2 | 0.007488 | |
| 12:21640794 T / _ (rs142199507) | 12 | 21640794 | RECQL | c.395-1275delA | PASS | intron | 6 | 10 | 2404 | 5 | 0 | 0.004160 | |
| 12:21641044 T / C (rs74887844) | 12 | 21641044 | RECQL | c.395-1525A>G | PASS | intron | 6 | 19 | 2404 | 8 | 3 | 0.007903 | |
| 12:21641047 G / T (rs73082690) | 12 | 21641047 | RECQL | c.395-1528C>A | PASS | intron | 6 | 15 | 2404 | 7 | 1 | 0.006240 | |
| 12:21641119 T / C (rs113945954) | 12 | 21641119 | RECQL | c.395-1600A>G | PASS | intron | 6 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21641177 T / A (rs11046081) | 12 | 21641177 | RECQL | c.395-1658A>T | PASS | intron | 6 | 25 | 2404 | 11 | 3 | 0.01040 | |
| 12:21641576 C / A | 12 | 21641576 | RECQL | c.394+1557G>T | PASS | intron | 5 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21641583 C / T (rs2215731) | 12 | 21641583 | RECQL | c.394+1550G>A | PASS | intron | 5 | 288 | 2404 | 144 | 0 | 0.1198 | |
| 12:21641588 C / A | 12 | 21641588 | RECQL | c.394+1545G>T | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21641636 C / T (rs11836710) | 12 | 21641636 | RECQL | c.394+1497G>A | PASS | intron | 5 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21641884 C / T (rs12318289) | 12 | 21641884 | RECQL | c.394+1249G>A | PASS | intron | 5 | 218 | 2404 | 104 | 10 | 0.09068 | |
| 12:21641954 A / G (rs10743416) | 12 | 21641954 | RECQL | c.394+1179T>C | PASS | intron | 5 | 211 | 2404 | 93 | 25 | 0.08777 | |
| 12:21641984 C / A (rs67943377) | 12 | 21641984 | RECQL | c.394+1149G>T | PASS | intron | 5 | 88 | 2404 | 38 | 12 | 0.03661 | |
| 12:21642058 C / T (rs142641190) | 12 | 21642058 | RECQL | c.394+1075G>A | PASS | intron | 5 | 4 | 2404 | 1 | 2 | 0.001664 | |
| 12:21642328 _ / T (rs5796904) | 12 | 21642328 | RECQL | c.394+805dupA | PASS | intron | 5 | 55 | 2404 | 27 | 1 | 0.02288 | |
| 12:21642613 T / G (rs117953992) | 12 | 21642613 | RECQL | c.394+520A>C | PASS | intron | 5 | 6 | 2404 | 2 | 2 | 0.002496 | |
| 12:21642951 _ / T | 12 | 21642951 | RECQL | c.394+182dupA | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21642957 A / T | 12 | 21642957 | RECQL | c.394+176T>A | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21642963 A / T | 12 | 21642963 | RECQL | c.394+170T>A | PASS | intron | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21643039 T / C (rs71581965) | 12 | 21643039 | RECQL | c.394+94A>G | PASS | intron | 5 | 110 | 2404 | 23 | 64 | 0.04576 | |
| 12:21643218 T / C (rs144888414) | 12 | 21643218 | RECQL | p.Thr103= | c.309A>G | PASS | synonymous | 5 | 2 | 2404 | 0 | 2 | 0.0008319 |
| 12:21643223 C / T (rs1065751) | 12 | 21643223 | RECQL | p.Val102Ile | c.304G>A | PASS | missense | 5 | 2 | 2404 | 0 | 2 | 0.0008319 |
| 12:21643293 T / G (rs759065314) | 12 | 21643293 | RECQL | p.Lys78Asn | c.234A>C | PASS | missense | 5 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21643395 C / T (rs1374281786) | 12 | 21643395 | RECQL | c.215-83G>A | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21643398 C / T (rs4987216) | 12 | 21643398 | RECQL | c.215-86G>A | PASS | intron | 5 | 6 | 2404 | 1 | 4 | 0.002496 | |
| 12:21643408 T / C (rs191706119) | 12 | 21643408 | RECQL | c.215-96A>G | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21643434 G / A (rs183951716) | 12 | 21643434 | RECQL | c.215-122C>T | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21643481 G / T (rs77099696) | 12 | 21643481 | RECQL | c.215-169C>A | PASS | intron | 5 | 69 | 2404 | 18 | 33 | 0.02870 | |
| 12:21643546 T / A (rs79652499) | 12 | 21643546 | RECQL | c.215-234A>T | PASS | intron | 5 | 36 | 2404 | 17 | 2 | 0.01498 | |
| 12:21643598 C / T (rs76026988) | 12 | 21643598 | RECQL | c.215-286G>A | PASS | intron | 5 | 34 | 2404 | 16 | 2 | 0.01414 | |
| 12:21643599 G / A (rs76130258) | 12 | 21643599 | RECQL | c.215-287C>T | PASS | intron | 5 | 34 | 2404 | 16 | 2 | 0.01414 | |
| 12:21643628 T / A (rs78228406) | 12 | 21643628 | RECQL | c.215-316A>T | PASS | intron | 5 | 31 | 2404 | 14 | 3 | 0.01290 | |
| 12:21643763 G / A (rs111989066) | 12 | 21643763 | RECQL | c.215-451C>T | PASS | intron | 5 | 62 | 2404 | 26 | 10 | 0.02579 | |
| 12:21643767 A / G | 12 | 21643767 | RECQL | c.215-455T>C | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21643771 A / G | 12 | 21643771 | RECQL | c.215-459T>C | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21643892 T / G (rs17627175) | 12 | 21643892 | RECQL | c.214+561A>C | PASS | intron | 4 | 9 | 2404 | 4 | 1 | 0.003744 | |
| 12:21644096 G / _ | 12 | 21644096 | RECQL | c.214+357delC | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21644413 A / T (rs190456326) | 12 | 21644413 | RECQL | c.214+40T>A | PASS | intron | 4 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21644429 _ / A (rs140439673) | 12 | 21644429 | RECQL | c.214+24dupT | PASS | intron | 4 | 109 | 2404 | 9 | 91 | 0.04534 | |
| 12:21644429 _ / AA (rs140439673) | 12 | 21644429 | RECQL | c.214+23_214+24dupTT | PASS | intron | 4 | 15 | 2404 | 1 | 13 | 0.006240 | |
| 12:21644429 A / _ (rs140439673) | 12 | 21644429 | RECQL | c.214+24delT | PASS | intron | 4 | 230 | 2404 | 15 | 200 | 0.09567 | |
| 12:21644429 AA / _ (rs140439673) | 12 | 21644429 | RECQL | c.214+23_214+24delTT | PASS | intron | 4 | 23 | 2404 | 1 | 21 | 0.009567 | |
| 12:21644429 AAA / _ (rs140439673) | 12 | 21644429 | RECQL | c.214+22_214+24delTTT | PASS | intron | 4 | 5 | 2404 | 0 | 5 | 0.002080 | |
| 12:21644494 C / G | 12 | 21644494 | RECQL | p.Ser58Thr | c.173G>C | PASS | missense | 4 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21644580 C / T (rs375011196) | 12 | 21644580 | RECQL | p.Thr29= | c.87G>A | PASS | synonymous | 4 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21644666 C / G (rs71581964) | 12 | 21644666 | RECQL | c.17-16G>C | PASS | intron | 4 | 208 | 2404 | 13 | 182 | 0.08652 | |
| 12:21644667 G / A (rs10841834) | 12 | 21644667 | RECQL | c.17-17C>T | PASS | intron | 4 | 1023 | 2404 | 225 | 573 | 0.4255 | |
| 12:21644668 G / A (rs1393951306) | 12 | 21644668 | RECQL | c.17-18C>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21644726 G / A (rs7306899) | 12 | 21644726 | RECQL | c.17-76C>T | PASS | intron | 4 | 11 | 2404 | 0 | 11 | 0.004576 | |
| 12:21644732 C / T (rs566796211) | 12 | 21644732 | RECQL | c.17-82G>A | PASS | intron | 4 | 3 | 2404 | 0 | 3 | 0.001248 | |
| 12:21644784 C / T | 12 | 21644784 | RECQL | c.17-134G>A | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21644822 G / A (rs4762703) | 12 | 21644822 | RECQL | c.17-172C>T | PASS | intron | 4 | 113 | 2404 | 20 | 73 | 0.04700 | |
| 12:21645233 G / A (rs7310464) | 12 | 21645233 | RECQL | c.17-583C>T | PASS | intron | 4 | 18 | 2404 | 8 | 2 | 0.007488 | |
| 12:21645393 C / T (rs17627228) | 12 | 21645393 | RECQL | c.17-743G>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21645680 C / A (rs78096884) | 12 | 21645680 | RECQL | c.17-1030G>T | PASS | intron | 4 | 39 | 2404 | 19 | 1 | 0.01622 | |
| 12:21645889 C / G (rs73071364) | 12 | 21645889 | RECQL | c.17-1239G>C | PASS | intron | 4 | 11 | 2404 | 5 | 1 | 0.004576 | |
| 12:21646494 C / A (rs79640119) | 12 | 21646494 | RECQL | c.17-1844G>T | PASS | intron | 4 | 12 | 2404 | 6 | 0 | 0.004992 | |
| 12:21646562 A / C (rs11835261) | 12 | 21646562 | RECQL | c.17-1912T>G | PASS | intron | 4 | 28 | 2404 | 13 | 2 | 0.01165 | |
| 12:21646768 A / G (rs36015836) | 12 | 21646768 | RECQL | c.17-2118T>C | PASS | intron | 4 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21646880 C / A (rs144073089) | 12 | 21646880 | RECQL | c.17-2230G>T | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21647156 G / A (rs78572214) | 12 | 21647156 | RECQL | c.17-2506C>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21647337 T / C (rs2284393) | 12 | 21647337 | RECQL | c.17-2687A>G | PASS | intron | 4 | 33 | 2404 | 16 | 1 | 0.01373 | |
| 12:21647545 G / T (rs76053842) | 12 | 21647545 | RECQL | c.17-2895C>A | PASS | intron | 4 | 6 | 2404 | 3 | 0 | 0.002496 | |
| 12:21647758 A / G (rs12833589) | 12 | 21647758 | RECQL | c.17-3108T>C | PASS | intron | 4 | 45 | 2404 | 21 | 3 | 0.01872 | |
| 12:21647858 A / T | 12 | 21647858 | RECQL | c.17-3208T>A | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21648007 C / T (rs76658698) | 12 | 21648007 | RECQL | c.17-3357G>A | PASS | intron | 4 | 22 | 2404 | 9 | 4 | 0.009151 | |
| 12:21648070 C / T (rs67187752) | 12 | 21648070 | RECQL | c.17-3420G>A | PASS | intron | 4 | 29 | 2404 | 13 | 3 | 0.01206 | |
| 12:21648085 A / G | 12 | 21648085 | RECQL | c.17-3435T>C | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21648248 C / A | 12 | 21648248 | RECQL | c.17-3598G>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21648253 A / G (rs6487234) | 12 | 21648253 | RECQL | c.17-3603T>C | PASS | intron | 4 | 888 | 2404 | 443 | 2 | 0.3694 | |
| 12:21648286 T / C (rs1943485676) | 12 | 21648286 | RECQL | c.17-3636A>G | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21648302 G / A (rs562883079) | 12 | 21648302 | RECQL | c.17-3652C>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21648307 G / A (rs1371139801) | 12 | 21648307 | RECQL | c.17-3657C>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21648316 A / G (rs932884359) | 12 | 21648316 | RECQL | c.17-3666T>C | PASS | intron | 4 | 5 | 2404 | 2 | 1 | 0.002080 | |
| 12:21648324 A / T | 12 | 21648324 | RECQL | c.17-3674T>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21648334 T / G | 12 | 21648334 | RECQL | c.17-3684A>C | PASS | intron | 4 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21648341 T / C | 12 | 21648341 | RECQL | c.17-3691A>G | PASS | intron | 4 | 3 | 2404 | 1 | 1 | 0.001248 | |
| 12:21648374 C / A | 12 | 21648374 | RECQL | c.17-3724G>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21648375 A / C | 12 | 21648375 | RECQL | c.17-3725T>G | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21648398 C / T (rs11046085) | 12 | 21648398 | RECQL | c.17-3748G>A | PASS | intron | 4 | 15 | 2404 | 6 | 3 | 0.006240 | |
| 12:21648455 G / A (rs78821072) | 12 | 21648455 | RECQL | c.17-3805C>T | PASS | intron | 4 | 16 | 2404 | 6 | 4 | 0.006656 | |
| 12:21648500 G / C (rs11831978) | 12 | 21648500 | RECQL | c.17-3850C>G | PASS | intron | 4 | 8 | 2404 | 3 | 2 | 0.003328 | |
| 12:21648686 A / G (rs73071368) | 12 | 21648686 | RECQL | c.16+3803T>C | PASS | intron | 3 | 11 | 2404 | 5 | 1 | 0.004576 | |
| 12:21648796 G / C (rs73071369) | 12 | 21648796 | RECQL | c.16+3693C>G | PASS | intron | 3 | 8 | 2404 | 4 | 0 | 0.003328 | |
| 12:21648945 T / A (rs10841835) | 12 | 21648945 | RECQL | c.16+3544A>T | PASS | intron | 3 | 59 | 2404 | 27 | 5 | 0.02454 | |
| 12:21649160 T / C (rs2110159) | 12 | 21649160 | RECQL | c.16+3329A>G | PASS | intron | 3 | 86 | 2404 | 41 | 4 | 0.03577 | |
| 12:21649167 ATT / _ | 12 | 21649167 | RECQL | c.16+3320_16+3322delAAT | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21649322 G / A (rs73071373) | 12 | 21649322 | RECQL | c.16+3167C>T | PASS | intron | 3 | 11 | 2404 | 5 | 1 | 0.004576 | |
| 12:21649386 A / G (rs79686627) | 12 | 21649386 | RECQL | c.16+3103T>C | PASS | intron | 3 | 13 | 2404 | 6 | 1 | 0.005408 | |
| 12:21649539 A / C (rs12231436) | 12 | 21649539 | RECQL | c.16+2950T>G | PASS | intron | 3 | 46 | 2404 | 21 | 4 | 0.01913 | |
| 12:21649554 C / A (rs73071376) | 12 | 21649554 | RECQL | c.16+2935G>T | PASS | intron | 3 | 10 | 2404 | 5 | 0 | 0.004160 | |
| 12:21649637 C / T (rs7297524) | 12 | 21649637 | RECQL | c.16+2852G>A | PASS | intron | 3 | 216 | 2404 | 108 | 0 | 0.08985 | |
| 12:21649686 T / C (rs149196101) | 12 | 21649686 | RECQL | c.16+2803A>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21650192 C / A | 12 | 21650192 | RECQL | c.16+2297G>T | PASS | intron | 3 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21650256 A / _ (rs905504516) | 12 | 21650256 | RECQL | c.16+2233delT | PASS | intron | 3 | 6 | 2404 | 2 | 2 | 0.002496 | |
| 12:21650289 C / A | 12 | 21650289 | RECQL | c.16+2200G>T | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21650291 G / A (rs1405548622) | 12 | 21650291 | RECQL | c.16+2198C>T | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21650469 G / A (rs7301779) | 12 | 21650469 | RECQL | c.16+2020C>T | PASS | intron | 3 | 196 | 2404 | 98 | 0 | 0.08153 | |
| 12:21650472 A / G | 12 | 21650472 | RECQL | c.16+2017T>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21650588 A / C (rs7301591) | 12 | 21650588 | RECQL | c.16+1901T>G | PASS | intron | 3 | 220 | 2404 | 110 | 0 | 0.09151 | |
| 12:21650616 G / C (rs7301961) | 12 | 21650616 | RECQL | c.16+1873C>G | PASS | intron | 3 | 210 | 2404 | 105 | 0 | 0.08735 | |
| 12:21650856 C / T (rs12829302) | 12 | 21650856 | RECQL | c.16+1633G>A | PASS | intron | 3 | 35 | 2404 | 16 | 3 | 0.01456 | |
| 12:21651267 G / A (rs2284394) | 12 | 21651267 | RECQL | c.16+1222C>T | PASS | intron | 3 | 177 | 2404 | 87 | 3 | 0.07363 | |
| 12:21651268 A / G | 12 | 21651268 | RECQL | c.16+1221T>C | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21651295 G / T | 12 | 21651295 | RECQL | c.16+1194C>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21651299 G / T | 12 | 21651299 | RECQL | c.16+1190C>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21651460 G / A (rs2284395) | 12 | 21651460 | RECQL | c.16+1029C>T | PASS | intron | 3 | 81 | 2404 | 40 | 1 | 0.03369 | |
| 12:21651786 A / G (rs6487235) | 12 | 21651786 | RECQL | c.16+703T>C | PASS | intron | 3 | 168 | 2404 | 84 | 0 | 0.06988 | |
| 12:21652018 A / G (rs76506684) | 12 | 21652018 | RECQL | c.16+471T>C | PASS | intron | 3 | 15 | 2404 | 7 | 1 | 0.006240 | |
| 12:21652347 G / A (rs1943564611) | 12 | 21652347 | RECQL | c.16+142C>T | PASS | intron | 3 | 2 | 2404 | 0 | 2 | 0.0008319 | |
| 12:21652496 G / A (rs745666008) | 12 | 21652496 | RECQL | p.Ser3= | c.9C>T | PASS | synonymous | 3 | 1 | 2404 | 0 | 1 | 0.0004160 |
| 12:21652614 C / T (rs1023843854) | 12 | 21652614 | RECQL | c.-45-65G>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
| 12:21652641 G / A (rs12423412) | 12 | 21652641 | RECQL | c.-45-92C>T | PASS | intron | 3 | 333 | 2404 | 52 | 229 | 0.1385 | |
| 12:21653114 T / G | 12 | 21653114 | RECQL | c.-45-565A>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21653119 A / C (rs2300211) | 12 | 21653119 | RECQL | c.-45-570T>G | PASS | intron | 3 | 71 | 2404 | 34 | 3 | 0.02953 | |
| 12:21653489 T / C (rs551875710) | 12 | 21653489 | RECQL | c.-46+615A>G | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21653499 A / G (rs570555960) | 12 | 21653499 | RECQL | c.-46+605T>C | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21653716 C / A (rs2300212) | 12 | 21653716 | RECQL | c.-46+388G>T | PASS | intron | 2 | 135 | 2404 | 66 | 3 | 0.05616 | |
| 12:21653757 C / T (rs73071386) | 12 | 21653757 | RECQL | c.-46+347G>A | PASS | intron | 2 | 4 | 2404 | 2 | 0 | 0.001664 | |
| 12:21654386 C / A | 12 | 21654386 | RECQL | c.-131G>T | PASS | 5' UTR | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21654407 G / A (rs1061627) | 12 | 21654407 | RECQL | c.-152C>T | PASS | 5' UTR | 1 | 291 | 2404 | 141 | 9 | 0.1210 | |
| 12:21654418 C / A | 12 | 21654418 | RECQL | c.-163G>T | PASS | 5' UTR | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21654419 C / T | 12 | 21654419 | RECQL | c.-164G>A | PASS | 5' UTR | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21654436 _ / GTGTCCGACTGTCCT (rs1168910194) | 12 | 21654436 | RECQL | c.-195_-181dupAGGACAGTCGGACAC | PASS | 5' UTR | 1 | 2 | 2404 | 1 | 0 | 0.0008319 | |
| 12:21654469 T / G (rs1061626) | 12 | 21654469 | RECQL | c.-214A>C | PASS | 5' UTR | 1 | 80 | 2404 | 36 | 8 | 0.03328 | |
| 12:21654492 C / T (rs71581963) | 12 | 21654492 | RECQL | c.-434G>A | PASS | 5' UTR | 1 | 16 | 2404 | 6 | 4 | 0.006656 |