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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANK3_chr10_60021298_60394875 | 60358109 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03486.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0047a0001c0055others(1): Show | a0001c0001t0001a0001c0047t0045a0001c0055t0015others(1): Show | a0001c0001t0001g0133a0001c0047t0045g0131a0001c0055t0015g0130others(1): Show | 4 | 192 | 0.0208 | -12 | c.114 others(31): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60363970 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0057 | a0001c0057t0025 | a0001c0057t0025g0155 | 1 | 192 | 0.0052 | -12 | c.114 others(31): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60382797 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 |
a0001 | a0001c0015a0001c0039 | a0001c0015t0004a0001c0039t0012 | a0001c0015t0004g0035a0001c0039t0012g0034 | 2 | 192 | 0.0104 | -12 | c.114 others(29): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60390755 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0020 | a0006c0020t0030 | a0006c0020t0030g0002 | 1 | 192 | 0.0052 | -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 |
a0001a0002a0007others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0036others(7): Show | 10 | 296 | 0.0338 | -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 |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(34): Show | 37 | 296 | 0.1250 | -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 | 338 | 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 |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0004others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0043others(19): Show | 23 | 338 | 0.0681 | -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 | a0001c0004t0003g0030a0001c0004t0003g0255 | 2 | 338 | 0.0059 | -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 | a0001c0004t0003g0030a0001c0004t0003g0255 | 2 | 338 | 0.0059 | -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 | a0017 | a0017c0023 | a0017c0023t0019 | a0017c0023t0019g0190 | 1 | 372 | 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 | a0009c0010t0009g0008a0009c0010t0009g0040a0009c0010t0009g0041others(2): Show | 6 | 372 | 0.0161 | -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 | a0002c0002t0004g0157a0004c0005t0004g0030a0004c0005t0011g0007others(23): Show | 28 | 372 | 0.0753 | -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 | a0001c0002t0047 | a0001c0002t0047g0067 | 1 | 392 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(32): Show | a0001c0001t0002g0002a0001c0001t0003g0002a0001c0001t0003g0005others(55): Show | 126 | 392 | 0.3214 | -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 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 392 | 0.0026 | -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 | a0001c0004t0005g0006 | 1 | 112 | 0.0089 | -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 | a0001c0004t0011g0065a0002c0002t0016g0063a0003c0020t0020g0068others(3): Show | 6 | 112 | 0.0536 | -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 | a0001c0004t0006g0079a0001c0004t0015g0010a0003c0003t0003g0002others(7): Show | 10 | 112 | 0.0893 | -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(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0048others(27): Show | 30 | 112 | 0.2679 | -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 | a0001c0010t0026g0009a0001c0011t0014g0022a0001c0011t0014g0045others(2): Show | 5 | 112 | 0.0446 | -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 | a0002c0002t0013g0031a0002c0002t0013g0032a0002c0002t0016g0063others(1): Show | 4 | 112 | 0.0357 | -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 | a0001c0001t0001g0048 | 1 | 112 | 0.0089 | -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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(98): Show | 101 | 300 | 0.3367 | -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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(106): Show | 109 | 300 | 0.3633 | -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 | a0001c0001t0001g0069 | 1 | 300 | 0.0033 | -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 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | 300 | 0.4067 | -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 | a0001c0002t0004g0151 | 1 | 300 | 0.0033 | -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 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0011a0001c0001t0001g0031a0001c0001t0001g0140others(15): Show | 18 | 322 | 0.0559 | -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 |
a0001a0010 | a0001c0001a0001c0017a0010c0010 | a0001c0001t0001a0001c0017t0001a0010c0010t0001 | a0001c0001t0001g0017a0001c0001t0001g0042a0001c0001t0001g0059others(12): Show | 15 | 322 | 0.0466 | -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 | 322 | 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 | 322 | 0.0031 | -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 | 322 | 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 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0147others(9): Show | 12 | 322 | 0.0373 | -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 | 322 | 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 | 322 | 0.0031 | -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 |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0003a0010c0010t0001 | a0001c0001t0001g0200a0001c0001t0003g0003a0010c0010t0001g0101 | 3 | 322 | 0.0093 | -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(70): Show |
a0001a0002a0008 | a0001c0001a0001c0019a0002c0002others(1): Show | a0001c0001t0001a0001c0019t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0209a0001c0001t0001g0210others(70): Show | 73 | 322 | 0.2267 | -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 | 232 | 0.0043 | -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 | 232 | 0.0043 | -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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(46): Show | 49 | 232 | 0.2112 | -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 | a0001c0001t0006g0054a0001c0001t0012g0052 | 2 | 232 | 0.0086 | -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 | a0001c0001t0001g0010a0001c0001t0001g0023a0001c0001t0001g0041others(41): Show | 44 | 232 | 0.1897 | -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 | a0001c0001t0002g0160a0001c0001t0002g0205a0001c0001t0014g0204others(2): Show | 5 | 232 | 0.0216 | -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 | a0001c0003t0013g0018a0001c0004t0005g0014a0001c0004t0005g0019others(16): Show | 19 | 314 | 0.0605 | -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 | 314 | 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 | a0001c0002t0003g0309 | 1 | 314 | 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 | a0001c0002t0003g0204a0001c0002t0003g0205a0001c0002t0003g0206others(9): Show | 12 | 314 | 0.0382 | -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 | a0001c0002t0001g0008a0001c0002t0003g0207a0001c0002t0003g0231others(1): Show | 4 | 314 | 0.0127 | -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 | a0001c0002t0001g0007a0001c0002t0003g0166a0001c0002t0003g0202others(2): Show | 5 | 314 | 0.0159 | -12 | c.788 others(29): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |