view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIG1_chr6_143055889_143346058 | 143287737 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0099 others(30): Show |
33 | 45 | 0.7333 | 3 | c.515 others(20): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143331846 | T | TTTA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0094 others(61): Show |
65 | 113 | 0.5752 | 3 | c.516 others(20): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0094 others(53): Show |
56 | 87 | 0.6437 | 3 | c.*60 others(14): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106312465 | T | TGAG | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(103): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0112 others(65): Show |
106 | 382 | 0.2775 | 3 | c.-41 others(14): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4084 | chr4 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106329772 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG02027.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002 | a0001c0001t0007g0095 a0002c0002t0002g0015 a0002c0002t0002g0175 others(11): Show |
17 | 131 | 0.1298 | 3 | c.391 others(20): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6007087 | C | CATT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00741.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0119 others(24): Show |
28 | 88 | 0.3182 | 3 | c.-22 others(14): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2184 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6021338 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0179 a0001c0001t0001g0230 a0001c0001t0001g0234 others(3): Show |
6 | 244 | 0.0246 | 3 | c.575 others(20): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6021996 | C | CCCT | intron_variant | MODIFIER | NA18947.hp2 NA18964.hp2 NA18981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0350 a0001c0001t0002g0355 others(1): Show |
7 | 440 | 0.0159 | 3 | c.575 others(20): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6024376 | T | TAGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(383): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(325): Show |
386 | 440 | 0.8773 | 3 | c.*68 others(12): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 543 | chr7 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6425309 | T | TTTG | 3_prime_UTR_variant | MODIFIER | HG01346.hp2 HG01433.hp1 HG01952.hp2 others(33): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0009a0001c0002t0012a0001c0002t0013others(10): Show | a0001c0002t0009g0171 a0001c0002t0012g0011 a0001c0002t0012g0137 others(21): Show |
36 | 452 | 0.0796 | 3 | c.*15 others(12): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 6/6 | 150 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG01168.hp1 HG01891.hp2 others(14): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0016 | a0001c0002t0007a0001c0002t0013a0001c0002t0015others(4): Show | a0001c0002t0007g0064 a0001c0002t0007g0282 a0001c0002t0007g0285 others(13): Show |
17 | 223 | 0.0762 | 3 | c.277 others(20): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6431457 | G | GAAA | intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02071.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0013a0001c0002t0015others(4): Show | a0001c0002t0007g0064 a0001c0002t0007g0276 a0001c0002t0007g0282 others(14): Show |
18 | 444 | 0.0405 | 3 | c.276 others(20): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0050a0001c0002t0001others(26): Show | a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0050g0159 others(61): Show |
111 | 260 | 0.4269 | 3 | c.97- others(16): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436883 | A | AGAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00597.hp2 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0002g0003 a0001c0001t0002g0199 a0001c0001t0004g0267 others(58): Show |
77 | 284 | 0.2711 | 3 | c.-17 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1763 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6437847 | C | CCCT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(74): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 others(240): Show |
370 | 451 | 0.8204 | 3 | c.-27 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2727 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6438338 | C | CTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01175.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0005 a0001c0001t0002g0058 a0001c0001t0004g0007 others(15): Show |
19 | 212 | 0.0896 | 3 | c.-32 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3218 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6438509 | A | ATTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0018others(2): Show | a0001c0001t0002g0051 a0001c0001t0008g0018 a0001c0001t0008g0208 others(3): Show |
8 | 98 | 0.0816 | 3 | c.-34 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 3389 | chr17 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4651882 | C | CAAT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(56): Show | a0001c0001t0001g0240 a0001c0001t0001g0304 a0001c0001t0001g0318 others(63): Show |
67 | 152 | 0.4408 | 3 | c.-35 others(14): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2726 | chr1 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GTGT | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG03688.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0144a0002c0003t0059a0002c0004t0039 | a0001c0001t0144g0058 a0002c0003t0059g0323 a0002c0004t0039g0112 |
3 | 21 | 0.1429 | 3 | c.29+ others(20): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4705395 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG01346.hp1 HG02293.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(14): Show | a0001c0001t0001g0304 a0001c0001t0002g0097 a0001c0001t0007g0113 others(18): Show |
21 | 66 | 0.3182 | 3 | c.30- others(18): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4707973 | T | TTTG | intron_variant | MODIFIER | HG00323.hp1 HG01928.hp2 HG01943.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0145a0001c0001t0177others(8): Show | a0001c0001t0001g0318 a0001c0001t0145g0045 a0001c0001t0177g0319 others(9): Show |
12 | 326 | 0.0368 | 3 | c.30- others(18): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4767516 | C | CACA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(54): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(39): Show | a0001c0001t0005g0131 a0001c0001t0006g0159 a0001c0001t0006g0290 others(53): Show |
57 | 332 | 0.1717 | 3 | c.830 others(20): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJM1_chr9_136837478_136853801 | 136838752 | T | TGAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(306): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show |
309 | 362 | 0.8536 | 3 | c.-39 others(14): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 3725 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127867007 | C | CTTT | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01074.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0020 others(18): Show |
34 | 345 | 0.0986 | 3 | c.*99 others(13): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 7/7 | 1000 | chr9 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127870200 | C | CTTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0124 a0001c0001t0003g0145 a0001c0001t0003g0160 others(4): Show |
11 | 79 | 0.1392 | 3 | c.324 others(20): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127881054 | C | CTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01099.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show |
34 | 42 | 0.8095 | 3 | c.-34 others(14): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 3380 | chr9 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33023401 | T | TACA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02559.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0001t0006g0213 others(9): Show |
14 | 247 | 0.0567 | 3 | c.219 others(20): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33025188 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp2 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 others(31): Show |
62 | 279 | 0.2222 | 3 | c.94- others(16): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4715216 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp1 others(74): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0002g0145 others(69): Show |
77 | 375 | 0.2053 | 3 | c.564 others(20): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4715391 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00597.hp1 others(93): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0002g0145 others(86): Show |
96 | 296 | 0.3243 | 3 | c.564 others(20): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4720689 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(112): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0029 a0001c0001t0001g0147 a0001c0001t0001g0205 others(105): Show |
115 | 292 | 0.3938 | 3 | c.272 others(20): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4729015 | A | ATTT | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 HG02071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0071 a0001c0001t0002g0131 others(15): Show |
19 | 119 | 0.1597 | 3 | c.152 others(20): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735479 | T | TATA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 others(95): Show |
111 | 459 | 0.2418 | 3 | c.151 others(20): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4740060 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01255.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0064 a0001c0001t0002g0373 a0001c0001t0003g0020 others(18): Show |
22 | 249 | 0.0884 | 3 | c.151 others(18): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65156925 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01071.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(34): Show | a0001c0001t0003g0291 a0001c0001t0004g0273 a0001c0001t0004g0274 others(64): Show |
68 | 283 | 0.2403 | 3 | c.145 others(20): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65159969 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0076a0001c0001t0077a0001c0002t0005others(3): Show | a0001c0001t0076g0157 a0001c0001t0077g0159 a0001c0002t0005g0006 others(9): Show |
13 | 219 | 0.0594 | 3 | c.145 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172855 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01106.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0053others(15): Show | a0001c0001t0003g0291 a0001c0001t0004g0273 a0001c0001t0004g0274 others(32): Show |
36 | 230 | 0.1565 | 3 | c.146 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65202866 | C | CTTT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01358.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0056others(11): Show | a0001c0001t0001g0038 a0001c0001t0004g0288 a0001c0001t0056g0254 others(32): Show |
36 | 68 | 0.5294 | 3 | c.265 others(22): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65232856 | C | CTTT | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02559.hp1 HG03225.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0001g0035 a0001c0002t0002g0024 a0001c0002t0007g0293 others(6): Show |
9 | 40 | 0.2250 | 3 | c.*66 others(14): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 712 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77324308 | T | TCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(212): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(212): Show |
215 | 282 | 0.7624 | 3 | c.700 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77325161 | G | GTTT | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp1 HG01952.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0015 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 others(4): Show |
7 | 252 | 0.0278 | 3 | c.700 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77327390 | C | CAAA | intron_variant | MODIFIER | HG01928.hp1 NA18960.hp2 NA18968.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0092 a0001c0003t0001g0244 a0001c0003t0001g0262 others(4): Show |
7 | 49 | 0.1429 | 3 | c.700 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367567 | A | ATAT | intron_variant | MODIFIER | HG04228.hp2 NA18955.hp1 NA18965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0113 a0001c0001t0001g0120 a0002c0002t0002g0037 |
3 | 270 | 0.0111 | 3 | c.891 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367569 | A | ATGT | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0098 a0002c0002t0002g0096 others(5): Show |
8 | 144 | 0.0556 | 3 | c.891 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367573 | A | ATGT | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 |
3 | 274 | 0.0109 | 3 | c.891 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368235 | A | ATGT | intron_variant | MODIFIER | HG01928.hp1 HG02895.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0008 | a0001c0001t0001g0092 a0002c0002t0002g0279 a0002c0002t0008g0278 |
3 | 252 | 0.0119 | 3 | c.891 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368237 | A | ATGT | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0024others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0224 a0001c0001t0007g0125 others(11): Show |
14 | 242 | 0.0579 | 3 | c.891 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77388567 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0027 others(79): Show |
82 | 183 | 0.4481 | 3 | c.892 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77400933 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0028 others(66): Show |
69 | 100 | 0.6900 | 3 | c.892 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77423219 | T | TAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(91): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(91): Show |
94 | 152 | 0.6184 | 3 | c.105 others(22): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |