Variant |
Chrom |
Position |
Genes |
Protein Consequence |
Transcript Consequence |
Filter |
Annotation |
Exon Number |
Allele Count |
Allele Number |
Number of Homozygotes |
Number of Heterozygotes |
Allele Frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12:21643218 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 |