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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANK3_chr10_60021298_60394875 | 60390755 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0020 | a0006c0020t0030 | a0006c0020t0030g0002 | 1 | 190 | 0.0053 | -12 | c.-12 others(23): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 881 | chr10 | TogoVar | |||||||
ANKAR_chr2_189669670_189751647 | 189704544 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02074.hp2 HG02622.hp1 others(7): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0018a0003c0002others(2): Show | a0001c0001t0001a0001c0018t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0042 others(7): Show |
10 | 57 | 0.1754 | -12 | c.170 others(29): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189742905 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp2 others(34): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0002a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 others(34): Show |
37 | 77 | 0.4805 | -12 | c.381 others(29): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64940390 | TGATTGAT others(5): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149 | 1 | 330 | 0.0030 | -12 | c.868 others(29): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64940423 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01516.hp2 others(20): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0004others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0030 others(18): Show |
23 | 336 | 0.0685 | -12 | c.868 others(29): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953719 | TCTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0034 a0001c0004t0003g0248 |
2 | 240 | 0.0083 | -12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64954618 | TCTTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0034 a0001c0004t0003g0248 |
2 | 336 | 0.0060 | -12 | c.148 others(31): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75611582 | ATCTGGGT others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0025 | a0025c0023 | a0025c0023t0007 | a0025c0023t0007g0189 | 1 | 370 | 0.0027 | -12 | c.-44 others(19): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/14 | 33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75615668 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02056.hp1 HG02132.hp1 others(3): Show |
a0009 | a0009c0010 | a0009c0010t0009 | a0009c0010t0009g0009 a0009c0010t0009g0010 a0009c0010t0009g0041 others(1): Show |
6 | 212 | 0.0283 | -12 | c.194 others(29): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75661396 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01167.hp2 others(25): Show |
a0002a0004a0006others(7): Show | a0002c0002a0004c0005a0006c0009others(7): Show | a0002c0002t0004a0004c0005t0004a0004c0005t0011others(8): Show | a0002c0002t0004g0156 a0004c0005t0004g0033 a0004c0005t0011g0008 others(22): Show |
28 | 117 | 0.2393 | -12 | c.109 others(31): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKEF1_chr20_10029987_10063303 | 10034893 | GGGCGGGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0067 | 1 | 389 | 0.0026 | -12 | c.-54 others(21): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 93 | chr20 | TogoVar | |||||||
ANKEF1_chr20_10029987_10063303 | 10034899 | GGGCGGAG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(123): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0003g0002 others(43): Show |
126 | 250 | 0.5040 | -12 | c.-54 others(21): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 87 | chr20 | TogoVar | |||||||
ANKEF1_chr20_10029987_10063303 | 10043652 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 215 | 0.0047 | -12 | c.546 others(27): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56188543 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0007 | 1 | 94 | 0.0106 | -12 | c.-70 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56220820 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03098.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0002a0003c0020others(2): Show | a0001c0004t0011a0002c0002t0016a0003c0020t0020others(3): Show | a0001c0004t0011g0065 a0002c0002t0016g0063 a0003c0020t0020g0068 others(3): Show |
6 | 110 | 0.0545 | -12 | c.13- others(27): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56391212 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02486.hp2 others(7): Show |
a0001a0003a0005 | a0001c0004a0003c0003a0005c0013 | a0001c0004t0006a0001c0004t0015a0003c0003t0003others(2): Show | a0001c0004t0006g0079 a0001c0004t0015g0010 a0003c0003t0003g0001 others(7): Show |
10 | 64 | 0.1563 | -12 | c.910 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56391368 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0046 others(26): Show |
29 | 48 | 0.6042 | -12 | c.910 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56393740 | TACTCATT others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp1 others(2): Show |
a0001a0005 | a0001c0010a0001c0011a0001c0028others(1): Show | a0001c0010t0026a0001c0011t0014a0001c0028t0005others(1): Show | a0001c0010t0026g0009 a0001c0011t0014g0022 a0001c0011t0014g0045 others(2): Show |
5 | 110 | 0.0455 | -12 | c.910 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56467783 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 NA18522.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0016a0002c0002t0017 | a0002c0002t0013g0031 a0002c0002t0013g0032 a0002c0002t0016g0063 others(1): Show |
4 | 104 | 0.0385 | -12 | c.177 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56503486 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 7 | 0.1429 | -12 | c.264 others(31): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4196144 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(98): Show |
101 | 107 | 0.9439 | -12 | c.110 others(29): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 8/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4241266 | CTTCTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(106): Show |
109 | 136 | 0.8015 | -12 | c.203 others(27): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 2/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4241269 | CTTCTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 298 | 0.0034 | -12 | c.203 others(27): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 2/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4254303 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(119): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
122 | 221 | 0.5520 | -12 | c.10+ others(27): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 1/24 | chr17 | TogoVar | |||||||
ANKFY1_chr17_4158821_4268979 | 4260618 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0152 | 1 | 162 | 0.0062 | -12 | c.10+ others(27): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 1/24 | chr17 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140404967 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02723.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0140 others(15): Show |
18 | 27 | 0.6667 | -12 | c.306 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140419774 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01074.hp2 others(12): Show |
a0001a0006 | a0001c0001a0001c0017a0006c0010 | a0001c0001t0001a0001c0017t0001a0006c0010t0001 | a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0059 others(12): Show |
15 | 133 | 0.1128 | -12 | c.307 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140422569 | ACTTTATG others(5): Show |
A | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 320 | 0.0031 | -12 | c.307 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | chr5 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140442033 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0314 | 1 | 280 | 0.0036 | -12 | c.913 others(27): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140458985 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 319 | 0.0031 | -12 | c.148 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140468052 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0148 others(9): Show |
12 | 29 | 0.4138 | -12 | c.178 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140485064 | CTATGAAC others(5): Show |
C | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 320 | 0.0031 | -12 | c.187 others(27): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 11/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140491156 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 308 | 0.0032 | -12 | c.224 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140497877 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG02615.hp2 HG02647.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0003a0006c0010t0001 | a0001c0001t0001g0200 a0001c0001t0003g0003 a0006c0010t0001g0101 |
3 | 104 | 0.0288 | -12 | c.300 others(29): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140503553 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0011 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0001a0001c0019t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0210 others(69): Show |
72 | 109 | 0.6606 | -12 | c.300 others(31): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 15/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14703324 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0206 | 1 | 14 | 0.0714 | -12 | c.*78 others(23): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1475 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14704329 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 44 | 0.0227 | -12 | c.*68 others(23): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 470 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14751703 | CAACAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(46): Show |
49 | 230 | 0.2130 | -12 | c.517 others(27): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14819898 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0053 a0001c0001t0012g0051 |
2 | 226 | 0.0088 | -12 | c.97- others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14819900 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01071.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0042 others(41): Show |
44 | 56 | 0.7857 | -12 | c.97- others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ANKH_chr5_14699800_14876778 | 14858715 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0002g0160 a0001c0001t0002g0205 a0001c0001t0014g0204 others(2): Show |
5 | 168 | 0.0298 | -12 | c.96+ others(29): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
ANKIB1_chr7_92240974_92406383 | 92258832 | AATAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02615.hp1 others(16): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0013a0001c0004t0005a0001c0004t0006others(1): Show | a0001c0003t0013g0019 a0001c0004t0005g0015 a0001c0004t0005g0020 others(16): Show |
19 | 312 | 0.0609 | -12 | c.-91 others(31): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338923 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0217 | 1 | 312 | 0.0032 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338925 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0308 | 1 | 311 | 0.0032 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338927 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 others(9): Show |
12 | 291 | 0.0412 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338929 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02258.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0003a0002c0001t0001 | a0001c0002t0001g0009 a0001c0002t0003g0207 a0001c0002t0003g0226 others(1): Show |
4 | 290 | 0.0138 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338931 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG03239.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0008 a0001c0002t0003g0165 a0001c0002t0003g0202 others(2): Show |
5 | 299 | 0.0167 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338960 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021 | 1 | 312 | 0.0032 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92344193 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(69): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0010 | a0001c0002t0003a0001c0002t0014a0001c0002t0019others(3): Show | a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 others(69): Show |
72 | 166 | 0.4337 | -12 | c.997 others(27): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92371950 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp1 HG01884.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0009a0001c0003t0002others(3): Show | a0001c0002t0003g0198 a0001c0002t0003g0201 a0001c0002t0003g0211 others(11): Show |
14 | 55 | 0.2545 | -12 | c.161 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |