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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69622370 | A | AC | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03209.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0117a0001c0001t0118a0001c0001t0120others(3): Show | a0001c0001t0117g0189a0001c0001t0118g0184a0001c0001t0120g0187others(3): Show | 6 | 298 | 0.0201 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626505 | A | AT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(59): Show | 62 | 298 | 0.2081 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626508 | A | AT | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01891.hp2 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0014a0001c0001t0021a0001c0001t0045others(15): Show | a0001c0001t0014g0059a0001c0001t0021g0278a0001c0001t0045g0287others(18): Show | 21 | 298 | 0.0705 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69626663 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG01175.hp1 HG01192.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0031others(10): Show | a0001c0001t0007g0027a0001c0001t0007g0086a0001c0001t0009g0139others(11): Show | 14 | 298 | 0.0470 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69628284 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(45): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(79): Show | 82 | 298 | 0.2752 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69630339 | G | GC | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01258.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(26): Show | a0001c0001t0004g0254a0001c0001t0004g0259a0001c0001t0004g0264others(37): Show | 40 | 298 | 0.1342 | 1 | c.163 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69630340 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(57): Show | a0001c0001t0002g0125a0001c0001t0002g0155a0001c0001t0007g0027others(77): Show | 80 | 298 | 0.2685 | 1 | c.163 others(10): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69633218 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0024others(1): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0056others(42): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0008g0022others(79): Show | 82 | 298 | 0.2752 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69633599 | C | CA | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG02145.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0002a0001c0001t0037a0001c0001t0092others(4): Show | a0001c0001t0002g0154a0001c0001t0002g0155a0001c0001t0037g0009others(5): Show | 8 | 298 | 0.0269 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69636201 | T | TA | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0011others(4): Show | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(8): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(10): Show | 13 | 298 | 0.0436 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69636705 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01243.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(41): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(70): Show | 73 | 298 | 0.2450 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640079 | T | TC | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02080.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0007a0001c0001t0024a0001c0001t0058others(9): Show | a0001c0001t0007g0089a0001c0001t0007g0099a0001c0001t0024g0090others(14): Show | 17 | 298 | 0.0571 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640481 | G | GT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(59): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(114): Show | 117 | 298 | 0.3926 | 1 | c.163 others(9): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69643085 | A | AT | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(64): Show | a0001c0001t0007g0027a0001c0001t0007g0049a0001c0001t0007g0065others(108): Show | 111 | 298 | 0.3725 | 1 | c.-46 others(4): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/22 | 46 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00738.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0031others(13): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0132others(22): Show | 25 | 298 | 0.0839 | 1 | c.-82 others(5): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77822414 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0094others(123): Show | 128 | 382 | 0.3351 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77823214 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(244): Show | 255 | 382 | 0.6675 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77823621 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0094others(140): Show | 149 | 382 | 0.3901 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77825698 | G | GT | intron_variant | MODIFIER | HG01074.hp2 NA18957.hp1 NA18963.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0344others(4): Show | 7 | 382 | 0.0183 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77826361 | C | CA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(70): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0014a0001c0002t0001g0076a0001c0002t0001g0078others(68): Show | 73 | 382 | 0.1911 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77830987 | C | CA | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01256.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0094a0001c0001t0001g0117a0001c0001t0001g0216others(24): Show | 28 | 382 | 0.0733 | 1 | c.-19 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77831694 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0133a0001c0002t0001g0022a0001c0002t0001g0023others(56): Show | 61 | 382 | 0.1597 | 1 | c.-19 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77831862 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0101a0001c0001t0001g0102others(36): Show | 39 | 382 | 0.1021 | 1 | c.-18 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77833010 | T | TA | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0310a0001c0001t0001g0343others(1): Show | 4 | 382 | 0.0105 | 1 | c.-18 others(18): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77834441 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(132): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(130): Show | 135 | 382 | 0.3534 | 1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77838615 | C | CT | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0104a0001c0001t0001g0344a0001c0002t0001g0009others(4): Show | 7 | 382 | 0.0183 | 1 | c.-18 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77845444 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(43): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0219a0001c0002t0002g0224others(42): Show | 46 | 382 | 0.1204 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77850953 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0157others(8): Show | 11 | 382 | 0.0288 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0094others(77): Show | 84 | 382 | 0.2199 | 1 | c.132 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77853993 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(204): Show | 213 | 382 | 0.5576 | 1 | c.132 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77855720 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(322): Show | 334 | 382 | 0.8744 | 1 | c.132 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77857699 | G | GT | intron_variant | MODIFIER | HG01256.hp1 HG02622.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0360a0001c0001t0001g0363a0001c0002t0002g0006others(4): Show | 8 | 382 | 0.0209 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77858194 | A | AT | intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0001g0294others(4): Show | 7 | 382 | 0.0183 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0100others(74): Show | 78 | 382 | 0.2042 | 1 | c.133 others(10): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77863933 | C | CT | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0130a0001c0001t0001g0294a0001c0002t0001g0022others(7): Show | 10 | 382 | 0.0262 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77868058 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00733.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0158a0001c0001t0001g0190a0001c0001t0001g0308others(76): Show | 81 | 382 | 0.2120 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77868357 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0106a0001c0001t0001g0155others(79): Show | 85 | 382 | 0.2225 | 1 | c.133 others(9): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869307 | T | TC | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp2 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0255a0001c0002t0002g0282a0001c0002t0002g0349 | 3 | 382 | 0.0079 | 1 | c.133 others(16): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77869312 | C | CT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01074.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0102a0001c0001t0001g0106others(32): Show | 36 | 382 | 0.0942 | 1 | c.133 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77870329 | A | AT | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01167.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0117a0001c0001t0001g0151a0001c0001t0001g0176others(26): Show | 29 | 382 | 0.0759 | 1 | c.228 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77874372 | C | CT | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02572.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0176a0001c0001t0001g0214a0001c0001t0001g0327others(20): Show | 23 | 382 | 0.0602 | 1 | c.*20 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2021 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77875041 | C | CA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01243.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0166a0001c0001t0001g0209others(28): Show | 31 | 382 | 0.0812 | 1 | c.*27 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2690 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77875551 | G | GA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024 | 3 | 382 | 0.0079 | 1 | c.*32 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3200 | chr11 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77876402 | C | CT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0292a0001c0001t0001g0342a0001c0001t0001g0343others(75): Show | 80 | 382 | 0.2094 | 1 | c.*40 others(12): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4051 | chr11 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273445 | T | TG | upstream_gene_variant | MODIFIER | HG01255.hp2 HG03669.hp2 HG03942.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0001a0001c0007t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0007t0001g0031others(1): Show | 6 | 400 | 0.0150 | 1 | c.-33 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3309 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273482 | T | TA | upstream_gene_variant | MODIFIER | HG00544.hp2 NA18951.hp1 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 6 | 400 | 0.0150 | 1 | c.-33 others(12): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3346 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273647 | A | AT | upstream_gene_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18963.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0026others(1): Show | 7 | 400 | 0.0175 | 1 | c.-35 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3511 | chr2 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76464341 | T | TA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(9): Show | 118 | 426 | 0.2770 | 1 | c.-34 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 3261 | chr17 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76464799 | A | AT | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 7 | 426 | 0.0164 | 1 | c.-30 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2803 | chr17 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76465344 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(5): Show | 138 | 426 | 0.3239 | 1 | c.-24 others(12): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2258 | chr17 | TogoVar |