| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CELA2A_chr1_15451732_15477091 | 15455673 | ACATTATA others(19368): Show |
A | transcript_ablation | HIGH | NA18959.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 430 | 0.0023 | -19375 | c.-10 others(11): Show |
p.0? | CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 3/8 | chr1 | TogoVar | |||||
| CSAG2_chrX_152703261_152714273 | 152707268 | GCCAGGAA others(6998): Show |
G | transcript_ablation | HIGH | NA18947.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 211 | 0.0047 | -7005 | c.-51 others(11): Show |
p.0? | CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1/2 | chrX | TogoVar | |||||
| CSH2_chr17_63867016_63878677 | 63869910 | CACCCGAG others(8760): Show |
C | transcript_ablation | HIGH | HG00099.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 410 | 0.0024 | -8767 | c.-50 others(11): Show |
p.0? | CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 5/5 | chr17 | TogoVar | |||||
| CTAG1B_chrX_154612609_154624282 | 154617539 | GCAACCCG others(6736): Show |
G | transcript_ablation | HIGH | HG03225.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 254 | 0.0039 | -6743 | c.-50 others(10): Show |
p.0? | CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 3/3 | chrX | TogoVar | |||||
| CYP2D6_chr22_42121499_42135810 | 42123231 | GCCTCTGC others(12145): Show |
G | transcript_ablation | HIGH | HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 14 | 417 | 0.0336 | -12152 | c.-45 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | |||||
| CYP2D6_chr22_42121499_42135810 | 42123462 | TTTTTTAG others(12144): Show |
T | transcript_ablation | HIGH | HG00099.hp2 HG01891.hp2 HG02300.hp1 others(6): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 9 | 417 | 0.0216 | -12151 | c.-48 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | |||||
| CYP2D6_chr22_42121499_42135810 | 42125620 | GGGGTGGG others(10183): Show |
G | transcript_ablation | HIGH | NA21309.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 417 | 0.0024 | -10190 | c.-50 others(10): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | |||||
| CYP4F2_chr19_15873023_15903074 | 15874303 | GGATCACC others(28764): Show |
G | transcript_ablation | HIGH | NA19054.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 380 | 0.0026 | -28771 | c.-50 others(11): Show |
p.0? | CYP4F2 | ENSG00000186115.13 | transcript | ENST00000221700.11 | protein_coding | 2/13 | chr19 | TogoVar | |||||
| DEFA1B_chr8_6991766_7004198 | 6992887 | GTGTGTAA others(11304): Show |
G | transcript_ablation | HIGH | HG01071.hp2 HG02257.hp1 HG03516.hp1 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 4 | 398 | 0.0101 | -11311 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||
| DEFA1B_chr8_6991766_7004198 | 6993399 | TTTTTTTT others(10792): Show |
T | transcript_ablation | HIGH | HG00140.hp1 HG00408.hp2 HG02027.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 398 | 0.0075 | -10799 | c.-50 others(11): Show |
p.0? | DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2/3 | chr8 | TogoVar | |||||
| DEFA4_chr8_6930820_6943306 | 6933348 | AAACTCAC others(7162): Show |
A | transcript_ablation | HIGH | HG00323.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 486 | 0.0021 | -7169 | c.-23 others(11): Show |
p.0? | DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/3 | chr8 | TogoVar | |||||
| GH1_chr17_63912203_63923839 | 63915020 | GCCTTTAT others(6609): Show |
G | transcript_ablation | HIGH | NA19057.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 420 | 0.0024 | -6616 | c.-28 others(11): Show |
p.0? | GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/5 | chr17 | TogoVar | |||||
| H3C13_chr1_149808225_149818693 | 149811957 | TGTACTTG others(6729): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 374 | 0.0027 | -6736 | c.-50 others(11): Show |
p.0? | H3C13 | ENSG00000183598.4 | transcript | ENST00000331491.2 | protein_coding | 1/1 | chr1 | TogoVar | |||||
| H4C11_chr6_27819092_27829480 | 27823802 | GTCAGCCA others(2809): Show |
G | transcript_ablation | HIGH | HG02148.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 396 | 0.0025 | -2816 | c.-32 others(10): Show |
p.0? | H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 1/1 | chr6 | TogoVar | |||||
| HBA2_chr16_167876_178710 | 172005 | CAACCAGT others(3797): Show |
C | transcript_ablation | HIGH | HG02683.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 386 | 0.0026 | -3804 | c.-90 others(10): Show |
p.0? | HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/3 | chr16 | TogoVar | |||||
| HBA2_chr16_167876_178710 | 172240 | GTTCCTTC others(3797): Show |
G | transcript_ablation | HIGH | HG00642.hp2 HG00738.hp2 HG01884.hp2 others(11): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 14 | 386 | 0.0363 | -3804 | c.-67 others(10): Show |
p.0? | HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/3 | chr16 | TogoVar | |||||
| HSD17B1_chr17_42547923_42560214 | 42549608 | TCCGGCCC others(6220): Show |
T | transcript_ablation | HIGH | HG03453.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 422 | 0.0024 | -6227 | c.-33 others(10): Show |
p.0? | HSD17B1 | ENSG00000108786.11 | transcript | ENST00000585807.6 | protein_coding | 6/6 | chr17 | TogoVar | |||||
| IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
| KLRC2_chr12_10425599_10441010 | 10428975 | AACATTTT others(12028): Show |
A | transcript_ablation | HIGH | NA19000.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 425 | 0.0024 | -12035 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | |||||
| KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 63 | 425 | 0.1482 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | |||||
| KRTAP2-3_chr17_41054240_41065114 | 41054887 | CGCAGGGG others(10220): Show |
C | transcript_ablation | HIGH | HG01258.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 441 | 0.0023 | -10227 | c.-50 others(11): Show |
p.0? | KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||
| KRTAP2-3_chr17_41054240_41065114 | 41055245 | GGAGAGGA others(9862): Show |
G | transcript_ablation | HIGH | HG03239.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 441 | 0.0023 | -9869 | c.-50 others(11): Show |
p.0? | KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||
| KRTAP4-16_chr17_41096502_41107209 | 41099365 | AAAATGTA others(7837): Show |
A | transcript_ablation | HIGH | NA20300.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 423 | 0.0024 | -7844 | c.-50 others(11): Show |
p.0? | KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | chr17 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7054595 | ATAAAATA others(7093): Show |
A | transcript_ablation | HIGH | HG00140.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7100 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7054611 | TAACATAT others(7065): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7072 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7054682 | TATAATTT others(7064): Show |
T | transcript_ablation | HIGH | NA18980.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7071 | c.-31 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | |||||
| MBD3L4_chr19_7032749_7045179 | 7033199 | ATCTCGGC others(11973): Show |
A | transcript_ablation | HIGH | HG00738.hp1 HG02622.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 262 | 0.0076 | -11980 | c.-50 others(11): Show |
p.0? | MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1/2 | chr19 | TogoVar | |||||
| MRGPRG_chr11_3212944_3223813 | 3217508 | CCCACCTA others(5341): Show |
C | transcript_ablation | HIGH | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(6): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 9 | 426 | 0.0211 | -5348 | c.-40 others(10): Show |
p.0? | MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1/1 | chr11 | TogoVar | |||||
| OR13C2_chr9_104599671_104610627 | 104600554 | GATTGGTC others(7497): Show |
G | transcript_ablation | HIGH | NA19043.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 412 | 0.0024 | -7504 | c.-24 others(11): Show |
p.0? | OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | chr9 | TogoVar | |||||
| OR52B2_chr11_6164355_6175326 | 6168457 | AAGTACTG others(3306): Show |
A | transcript_ablation | HIGH | HG03486.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 414 | 0.0024 | -3313 | c.-14 others(10): Show |
p.0? | OR52B2 | ENSG00000255307.2 | transcript | ENST00000530810.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||
| OR52E8_chr11_5851749_5862690 | 5852754 | ATTTTCTT others(9502): Show |
A | transcript_ablation | HIGH | HG00639.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
a0000 |