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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANAPC5_chr12_121303245_121357411 | 121352718 | T | TTGTTGTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 278 | 0.0036 | 15 | c.-37 others(24): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 308 | chr12 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121353435 | C | CTTTTGTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0188a0001c0001t0001g0198others(1): Show | 4 | 278 | 0.0144 | 15 | c.-11 others(26): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 1025 | chr12 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121357376 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 278 | 0.0036 | 15 | c.-50 others(26): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 4966 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110368308 | G | GAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 298 | 0.0034 | 15 | c.*58 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 4591 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382461 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 298 | 0.0034 | 15 | c.935 others(30): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110387285 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 298 | 0.0034 | 15 | c.674 others(30): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110392090 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 298 | 0.0034 | 15 | c.408 others(32): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
ANGEL1_chr14_76781009_76817882 | 76791218 | C | CAGGACAA others(8): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0228 | 1 | 396 | 0.0025 | 15 | c.168 others(30): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 8/9 | chr14 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996636 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173a0001c0001t0002g0198 | 2 | 392 | 0.0051 | 15 | c.148 others(32): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 213018750 | A | AAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0010g0214 | 2 | 392 | 0.0051 | 15 | c.-30 others(26): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2884 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107293197 | G | GTGATGAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 292 | 0.0034 | 15 | c.103 others(32): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 6/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107481532 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18961.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0086a0001c0001t0002g0085 | 3 | 292 | 0.0103 | 15 | c.297 others(34): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6559230 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0018 | a0002c0018t0004 | a0002c0018t0004g0215 | 1 | 336 | 0.0030 | 15 | c.288 others(32): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6562552 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01074.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0043others(10): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0087others(30): Show | 33 | 336 | 0.0982 | 15 | c.288 others(28): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0059 | 1 | 424 | 0.0024 | 15 | c.824 others(32): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41672244 | A | AATTGCAC others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0006a0001c0017a0001c0056 | a0001c0006t0003a0001c0006t0005a0001c0006t0018others(2): Show | a0001c0006t0003g0005a0001c0006t0003g0013a0001c0006t0003g0014others(6): Show | 9 | 278 | 0.0324 | 15 | c.509 others(32): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 38/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41703450 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0009a0001c0008t0002g0213 | 2 | 278 | 0.0072 | 15 | c.229 others(32): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 20/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41739522 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(31): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(10): Show | a0001c0001t0001g0214a0001c0001t0001g0262a0001c0003t0001g0049others(31): Show | 34 | 278 | 0.1223 | 15 | c.130 others(32): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 2/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113156371 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0078a0001c0001t0001g0097others(21): Show | 24 | 178 | 0.1348 | 15 | c.85- others(32): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113163764 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0088a0002c0002t0001g0090 | 3 | 178 | 0.0169 | 15 | c.85- others(32): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60029875 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0058 | 1 | 192 | 0.0052 | 15 | c.*20 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60032194 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01106.hp1 others(8): Show |
a0001a0002a0016 | a0001c0001a0001c0008a0001c0045others(4): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0034others(7): Show | a0001c0001t0003g0068a0001c0001t0003g0092a0001c0001t0010g0017others(8): Show | 11 | 192 | 0.0573 | 15 | c.*20 others(32): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60036422 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19005.hp2 |
a0001a0004 | a0001c0007a0004c0026 | a0001c0007t0003a0004c0026t0021 | a0001c0007t0003g0056a0004c0026t0021g0026 | 2 | 192 | 0.0104 | 15 | c.*19 others(32): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60064668 | C | CACAACAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02896.hp1 HG06807.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0037a0003c0080 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0163a0001c0001t0003g0092a0001c0001t0007g0180others(2): Show | 5 | 192 | 0.0260 | 15 | c.123 others(34): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 38/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60104405 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(23): Show |
a0001a0008a0018 | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0133a0001c0001t0001g0171a0001c0001t0002g0043others(23): Show | 26 | 192 | 0.1354 | 15 | c.332 others(34): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60187134 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG03139.hp1 others(1): Show |
a0001a0013 | a0001c0001a0001c0016a0001c0054others(1): Show | a0001c0001t0044a0001c0016t0006a0001c0054t0005others(1): Show | a0001c0001t0044g0189a0001c0016t0006g0011a0001c0054t0005g0151others(1): Show | 4 | 192 | 0.0208 | 15 | c.188 others(32): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 16/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60327015 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
a0004a0007a0027 | a0004c0044a0004c0087a0004c0089others(2): Show | a0004c0044t0001a0004c0087t0008a0004c0089t0031others(2): Show | a0004c0044t0001g0083a0004c0087t0008g0142a0004c0089t0031g0008others(3): Show | 6 | 192 | 0.0313 | 15 | c.115 others(34): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60355846 | G | GTAAGGAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01167.hp2 others(16): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0005a0001c0011others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0003g0092a0001c0001t0004g0085a0001c0001t0005g0094others(16): Show | 19 | 192 | 0.0990 | 15 | c.114 others(34): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189736502 | T | TTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 296 | 0.0034 | 15 | c.342 others(34): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189736502 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 296 | 0.0034 | 15 | c.342 others(34): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189744990 | T | TCTACTAC others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00597.hp1 others(24): Show |
a0001a0007a0013 | a0001c0001a0007c0011a0013c0014 | a0001c0001t0001a0001c0001t0002a0007c0011t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(24): Show | 27 | 296 | 0.0912 | 15 | c.405 others(32): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKAR_chr2_189669670_189751647 | 189745027 | C | CTAATAAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01070.hp2 others(23): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0072a0001c0001t0001g0087a0001c0001t0001g0092others(23): Show | 26 | 296 | 0.0878 | 15 | c.405 others(32): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951317 | T | TTTTCTTC others(8): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0298 | 1 | 338 | 0.0030 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951560 | T | TTTCTTCT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(192): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(187): Show | 195 | 338 | 0.5769 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64951691 | C | CTTATTCA others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 338 | 0.0030 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64953520 | T | TCCTTCTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(67): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0002a0002c0003t0002a0002c0005t0002others(3): Show | a0001c0002t0002g0143a0001c0002t0002g0147a0001c0002t0002g0150others(65): Show | 70 | 338 | 0.2071 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64953554 | T | TTTCTTCT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02735.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0213a0002c0003t0002g0311 | 2 | 338 | 0.0059 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64954718 | T | TCTCCTCC others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0003a0002c0003t0006 | a0001c0002t0006g0011a0001c0002t0006g0012a0001c0002t0006g0013others(3): Show | 6 | 338 | 0.0178 | 15 | c.148 others(34): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0223 | 1 | 372 | 0.0027 | 15 | c.798 others(32): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56189170 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 NA20129.hp1 |
a0005a0006 | a0005c0029a0006c0014 | a0005c0029t0021a0006c0014t0022 | a0005c0029t0021g0066a0006c0014t0022g0067 | 2 | 112 | 0.0179 | 15 | c.-70 others(34): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56368276 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0009t0001others(2): Show | a0001c0001t0001g0070a0001c0001t0029g0100a0001c0009t0001g0073others(3): Show | 6 | 112 | 0.0536 | 15 | c.602 others(32): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56401325 | A | AGTATTGT others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02055.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0028a0001c0004t0006others(9): Show | a0001c0001t0001g0050a0001c0001t0001g0074a0001c0001t0001g0086others(14): Show | 17 | 112 | 0.1518 | 15 | c.910 others(34): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKFN1_chr17_56148475_56522016 | 56467791 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0024 | 1 | 112 | 0.0089 | 15 | c.177 others(34): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140419917 | C | CCCCCTCC others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02698.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0058a0001c0001t0001g0120others(1): Show | 4 | 322 | 0.0124 | 15 | c.307 others(34): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140419945 | C | CCTCCCCT others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 322 | 0.0031 | 15 | c.307 others(34): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ANKHD1_chr5_140396833_140544849 | 140485397 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 322 | 0.0031 | 15 | c.199 others(32): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14793058 | A | ATATAAAT others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 232 | 0.0043 | 15 | c.97- others(32): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKH_chr5_14699800_14876778 | 14856622 | T | TCTCCTTC others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0055a0001c0001t0001g0059others(89): Show | 92 | 232 | 0.3966 | 15 | c.96+ others(32): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92338933 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0012 | 1 | 314 | 0.0032 | 15 | c.788 others(32): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKIB1_chr7_92240974_92406383 | 92338933 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0072 | 1 | 314 | 0.0032 | 15 | c.788 others(32): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |