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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4E1_chr15_50903683_51010895 | 50924552 | TAGAG | T | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0349a0001c0001t0004g0351a0001c0001t0004g0352 | 3 | 392 | 0.0077 | -4 | c.421 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50924899 | CTTTA | C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0208a0001c0001t0001g0209others(2): Show | 6 | 392 | 0.0153 | -4 | c.421 others(19): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50962889 | CAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG02004.hp1 HG02145.hp2 others(7): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0003c0004t0007a0003c0004t0018 | a0002c0003t0003g0026a0002c0003t0003g0027a0002c0003t0003g0028others(7): Show | 10 | 392 | 0.0255 | -4 | c.185 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4E1_chr15_50903683_51010895 | 50972198 | GTTTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(189): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0003others(4): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0012others(19): Show | a0001c0010t0002g0355a0002c0002t0002g0009a0002c0002t0002g0010others(188): Show | 192 | 392 | 0.4898 | -4 | c.196 others(23): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP4M1_chr7_100096643_100114039 | 100100179 | CTAAT | C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 3 | 416 | 0.0072 | -4 | c.-15 others(15): Show |
AP4M1 | ENSG00000221838.11 | transcript | ENST00000359593.9 | protein_coding | 1463 | chr7 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31024324 | CCTTA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0195others(43): Show | 47 | 346 | 0.1358 | -4 | c.-15 others(15): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1324 | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049428 | AATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029a0001c0001t0001g0118a0001c0001t0001g0119others(37): Show | 40 | 346 | 0.1156 | -4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049459 | ATATG | A | intron_variant | MODIFIER | NA18612.hp2 NA18957.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0134a0001c0001t0001g0218a0001c0001t0002g0189 | 3 | 346 | 0.0087 | -4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049469 | ATATG | A | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG01123.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0215a0001c0001t0001g0225a0001c0001t0001g0228others(14): Show | 17 | 346 | 0.0491 | -4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31049474 | TACAC | T | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016 | a0001c0001t0001g0011a0001c0001t0006g0015a0001c0001t0016g0197others(1): Show | 4 | 346 | 0.0116 | -4 | c.-71 others(23): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31058523 | GTGTA | G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01928.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0215a0001c0001t0001g0219others(5): Show | 8 | 346 | 0.0231 | -4 | c.-71 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31072732 | CAAGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0132a0001c0001t0001g0337others(26): Show | 29 | 346 | 0.0838 | -4 | c.226 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31074324 | CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(125): Show | 129 | 346 | 0.3728 | -4 | c.294 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31086410 | ATTTG | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0039 | a0001c0001t0019g0007a0001c0001t0019g0008a0001c0001t0039g0133 | 3 | 346 | 0.0087 | -4 | c.306 others(21): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31092467 | AACAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0039 | a0001c0001t0019g0007a0001c0001t0019g0008a0001c0001t0039g0133 | 3 | 346 | 0.0087 | -4 | c.307 others(19): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP4S1_chr14_31020649_31101450 | 31097201 | ATAGG | A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016a0001c0001t0020others(2): Show | a0001c0001t0012g0199a0001c0001t0012g0200a0001c0001t0012g0201others(5): Show | 8 | 346 | 0.0231 | -4 | c.*41 others(15): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 752 | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31099169 | GTTTA | G | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0037others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0012others(3): Show | 6 | 346 | 0.0173 | -4 | c.*61 others(15): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 2720 | chr14 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65781087 | GCTGA | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG03471.hp1 others(2): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0002a0004c0005t0006 | a0002c0003t0002g0002a0004c0005t0006g0008 | 5 | 424 | 0.0118 | -4 | c.-50 others(13): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 112 | chr11 | TogoVar | ||||||
AP5M1_chr14_57263971_57303742 | 57272883 | TTTTG | T | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01952.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0007a0001c0001t0001g0060a0001c0001t0001g0061others(1): Show | 8 | 280 | 0.0286 | -4 | c.75- others(19): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57275420 | GGAGA | G | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0014 | 4 | 280 | 0.0143 | -4 | c.720 others(19): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57286996 | TACAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp1 others(17): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0042a0001c0002t0004others(8): Show | a0001c0001t0001g0072a0001c0001t0042g0036a0001c0002t0004g0100others(11): Show | 20 | 280 | 0.0714 | -4 | c.139 others(21): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AP5M1_chr14_57263971_57303742 | 57294562 | TATTA | T | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01346.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0023a0001c0002t0007g0039a0001c0002t0007g0045 | 4 | 280 | 0.0143 | -4 | c.*56 others(15): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 8/8 | 5682 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
AP5M1_chr14_57263971_57303742 | 57300718 | ATTTT | A | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02523.hp2 HG03710.hp2 others(5): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0002t0029a0001c0011t0002 | a0001c0002t0002g0005a0001c0002t0002g0021a0001c0002t0002g0051others(2): Show | 8 | 280 | 0.0286 | -4 | c.*11 others(17): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 1977 | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3821849 | TTTTG | T | intron_variant | MODIFIER | HG03225.hp2 NA18944.hp2 NA18964.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(1): Show | a0001c0001t0001g0004a0001c0001t0003g0004a0001c0001t0029g0026others(1): Show | 7 | 412 | 0.0170 | -4 | c.-16 others(19): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4770864 | GGTGT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(100): Show | 168 | 340 | 0.4941 | -4 | c.-48 others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 4758 | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4779043 | TATAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0119a0001c0001t0005g0005a0001c0001t0005g0012others(6): Show | 15 | 340 | 0.0441 | -4 | c.42- others(19): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4790100 | TTCTC | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02257.hp1 others(19): Show |
a0003a0007a0010others(2): Show | a0003c0004a0007c0011a0007c0018others(3): Show | a0003c0004t0004a0003c0004t0007a0007c0011t0007others(5): Show | a0003c0004t0004g0004a0003c0004t0004g0016a0003c0004t0004g0056others(10): Show | 22 | 340 | 0.0647 | -4 | c.180 others(21): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4795903 | TTTTC | T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp2 others(23): Show |
a0001a0003a0005others(2): Show | a0001c0005a0003c0004a0005c0008others(3): Show | a0001c0005t0048a0003c0004t0004a0003c0004t0007others(4): Show | a0001c0005t0048g0031a0003c0004t0004g0004a0003c0004t0004g0016others(11): Show | 26 | 340 | 0.0765 | -4 | c.*45 others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1507 | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4798073 | CATAT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp2 others(25): Show |
a0003a0007a0009others(4): Show | a0003c0004a0007c0011a0007c0018others(5): Show | a0003c0004t0004a0003c0004t0007a0007c0011t0007others(8): Show | a0003c0004t0004g0004a0003c0004t0004g0016a0003c0004t0004g0056others(14): Show | 28 | 340 | 0.0824 | -4 | c.*66 others(15): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3677 | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98642952 | TTTTG | T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01884.hp2 others(7): Show |
a0001a0003a0009 | a0001c0001a0001c0004a0003c0005others(1): Show | a0001c0001t0013a0001c0001t0036a0001c0001t0037others(3): Show | a0001c0001t0013g0301a0001c0001t0013g0302a0001c0001t0013g0303others(7): Show | 10 | 366 | 0.0273 | -4 | c.-29 others(15): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 2337 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0003g0134others(5): Show | 8 | 366 | 0.0219 | -4 | c.526 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98665255 | CATAT | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0038 | a0001c0001t0002g0221a0001c0001t0002g0315a0001c0001t0002g0316others(5): Show | 8 | 366 | 0.0219 | -4 | c.956 others(19): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98672153 | TTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(155): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0209a0001c0001t0002g0221a0001c0001t0002g0314others(155): Show | 158 | 366 | 0.4317 | -4 | c.179 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98689435 | TGAGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01099.hp1 others(32): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0121a0001c0001t0002g0331a0001c0001t0002g0334others(32): Show | 35 | 366 | 0.0956 | -4 | c.230 others(23): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98715235 | CATAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0078a0001c0001t0001g0100others(27): Show | 30 | 366 | 0.0820 | -4 | c.295 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98723492 | TGTTA | T | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0230a0001c0001t0001g0232others(5): Show | 8 | 366 | 0.0219 | -4 | c.320 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98727966 | AAATT | A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01884.hp2 others(4): Show |
a0001a0003a0009 | a0001c0001a0003c0005a0009c0007 | a0001c0001t0001a0001c0001t0013a0003c0005t0007others(1): Show | a0001c0001t0001g0260a0001c0001t0013g0301a0001c0001t0013g0302others(4): Show | 7 | 366 | 0.0191 | -4 | c.360 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APAF1_chr12_98640290_98740433 | 98727990 | AAAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(69): Show |
a0001a0005a0007 | a0001c0001a0005c0008a0007c0011 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0003g0125a0001c0001t0003g0130a0001c0001t0003g0131others(69): Show | 72 | 366 | 0.1967 | -4 | c.360 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69424333 | TAATA | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(97): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0018a0001c0001t0002g0034a0001c0001t0002g0036others(97): Show | 100 | 210 | 0.4762 | -4 | c.*69 others(15): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 3198 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69427449 | TAGTC | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0012a0001c0001t0028a0001c0006t0029others(3): Show | a0001c0001t0012g0025a0001c0001t0028g0117a0001c0006t0029g0083others(4): Show | 7 | 210 | 0.0333 | -4 | c.*38 others(15): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 82 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69430539 | CTGTG | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(99): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0002g0018a0001c0001t0002g0034a0001c0001t0002g0036others(99): Show | 102 | 210 | 0.4857 | -4 | c.*78 others(13): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 13/13 | 784 | chr9 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69430558 | TGTGA | T | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0010a0001c0001t0013g0016 | 2 | 210 | 0.0095 | -4 | c.*76 others(13): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 13/13 | 765 | chr9 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69436570 | GCTCT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(91): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0002g0018a0001c0001t0002g0034a0001c0001t0002g0036others(91): Show | 94 | 210 | 0.4476 | -4 | c.230 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69447862 | AACCG | A | intron_variant | MODIFIER | HG01255.hp1 HG03225.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0042a0001c0001t0007g0047a0001c0001t0007g0108 | 3 | 210 | 0.0143 | -4 | c.218 others(23): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69471933 | CAGAG | C | intron_variant | MODIFIER | HG00423.hp2 HG02135.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0170a0001c0004t0002g0126 | 2 | 210 | 0.0095 | -4 | c.129 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 3/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69494485 | AAAAT | A | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0056a0001c0001t0008g0069a0001c0001t0008g0070others(3): Show | 6 | 210 | 0.0286 | -4 | c.120 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69501629 | AACAC | A | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0038a0001c0001t0002g0041a0001c0001t0002g0078others(1): Show | 4 | 210 | 0.0191 | -4 | c.120 others(25): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69515690 | TGGGG | T | intron_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0032a0001c0001t0001g0058a0001c0001t0001g0110others(15): Show | 18 | 210 | 0.0857 | -4 | c.120 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523493 | ATATG | A | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0037g0210 | 3 | 210 | 0.0143 | -4 | c.-69 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69523534 | GACAC | G | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0005g0175others(13): Show | 16 | 210 | 0.0762 | -4 | c.-69 others(21): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar |