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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHCYL2_chr7_129220030_129435211 | 129362597 | GTTT | G | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0280 a0001c0001t0002g0129 a0001c0001t0006g0116 others(12): Show |
15 | 133 | 0.1128 | -3 | c.364 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129411664 | CAGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0090 a0001c0001t0003g0135 a0001c0001t0003g0139 others(78): Show |
81 | 290 | 0.2793 | -3 | c.136 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34279109 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(64): Show |
a0001a0002a0005 | a0001c0001a0002c0008a0005c0002 | a0001c0001t0001a0002c0008t0001a0005c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(33): Show |
67 | 130 | 0.5154 | -3 | c.*19 others(14): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1158 | chr20 | TogoVar | |||||||
AHCY_chr20_34275268_34308355 | 34299240 | CCTT | C | intron_variant | MODIFIER | HG00544.hp1 HG02027.hp2 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0061 others(4): Show |
14 | 298 | 0.0470 | -3 | c.29- others(18): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27538400 | CAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0094 others(5): Show |
8 | 115 | 0.0696 | -3 | c.*44 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27541001 | TAAA | T | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG02970.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0001a0002c0003t0001a0004c0010t0001 | a0001c0001t0001g0087 a0002c0003t0001g0063 a0002c0003t0001g0104 others(2): Show |
5 | 62 | 0.0806 | -3 | c.*44 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27549006 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02109.hp2 HG02451.hp1 others(8): Show |
a0003a0004 | a0003c0004a0003c0009a0004c0010 | a0003c0004t0001a0003c0004t0004a0003c0009t0001others(1): Show | a0003c0004t0001g0014 a0003c0004t0001g0054 a0003c0004t0001g0061 others(8): Show |
11 | 178 | 0.0618 | -3 | c.310 others(12): Show |
p.Ser others(7): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/9 | 4010/6428 | 3107/4812 | 1036/1603 | chr1 | TogoVar | |||
AHI1_chr6_135278532_135502740 | 135300338 | AAAG | A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01496.hp2 others(9): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0017 | a0001c0001t0003a0001c0003t0004a0010c0017t0003 | a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0034 others(9): Show |
12 | 218 | 0.0550 | -3 | c.348 others(20): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135302614 | AGTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(54): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0001g0058 others(54): Show |
57 | 218 | 0.2615 | -3 | c.342 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135326415 | TTTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0042 a0001c0001t0003g0018 a0001c0001t0003g0032 others(9): Show |
12 | 218 | 0.0550 | -3 | c.316 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135333235 | CAAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(2): Show |
5 | 218 | 0.0229 | -3 | c.316 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135338300 | CAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp2 others(3): Show |
a0001a0006 | a0001c0003a0006c0007 | a0001c0003t0004a0001c0003t0013a0006c0007t0011 | a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0017 others(3): Show |
6 | 92 | 0.0652 | -3 | c.316 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135362156 | TGTG | T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 others(15): Show |
18 | 218 | 0.0826 | -3 | c.311 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135372021 | CATA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0013 | a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(2): Show |
5 | 218 | 0.0229 | -3 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374108 | ATTT | A | intron_variant | MODIFIER | HG01261.hp2 HG01516.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0159 others(4): Show |
7 | 161 | 0.0435 | -3 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382894 | TAAA | T | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0139 a0001c0001t0002g0199 a0001c0001t0003g0118 others(4): Show |
7 | 179 | 0.0391 | -3 | c.310 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382925 | AAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01928.hp2 others(5): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0013t0007 | a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 others(5): Show |
8 | 205 | 0.0390 | -3 | c.310 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135382927 | ATAT | A | intron_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02559.hp1 others(1): Show |
a0001a0010 | a0001c0001a0001c0021a0010c0017 | a0001c0001t0002a0001c0021t0010a0010c0017t0003 | a0001c0001t0002g0170 a0001c0001t0002g0218 a0001c0021t0010g0181 others(1): Show |
4 | 205 | 0.0195 | -3 | c.310 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135385604 | CATT | C | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0012 a0001c0001t0004g0016 |
2 | 218 | 0.0092 | -3 | c.310 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135441376 | CAGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(61): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0005a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(61): Show |
64 | 218 | 0.2936 | -3 | c.191 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 14/28 | chr6 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104965401 | CAAA | C | intron_variant | MODIFIER | HG02165.hp1 HG02809.hp2 HG02896.hp1 others(5): Show |
a0001a0003a0007others(4): Show | a0001c0002a0003c0004a0007c0008others(4): Show | a0001c0002t0001a0003c0004t0002a0007c0008t0001others(4): Show | a0001c0002t0001g0159 a0001c0002t0001g0161 a0003c0004t0002g0158 others(5): Show |
8 | 122 | 0.0656 | -3 | c.56- others(18): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104975488 | GCCT | G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01167.hp1 others(25): Show |
a0001a0008a0014others(12): Show | a0001c0001a0001c0040a0008c0010others(15): Show | a0001c0001t0001a0001c0040t0001a0008c0010t0003others(15): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0040t0001g0029 others(21): Show |
28 | 354 | 0.0791 | -3 | c.55+ others(18): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 319233 | GGGA | G | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0045 | a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0012g0254 others(1): Show |
4 | 266 | 0.0150 | -3 | c.-25 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2480 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 330869 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0017others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0025 a0001c0001t0001g0161 a0001c0001t0002g0178 others(65): Show |
68 | 170 | 0.4000 | -3 | c.-11 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 332929 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0161 others(89): Show |
94 | 207 | 0.4541 | -3 | c.-10 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340677 | TATA | T | intron_variant | MODIFIER | NA18946.hp2 NA18952.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0039 a0001c0001t0002g0044 a0002c0002t0001g0121 |
3 | 266 | 0.0113 | -3 | c.-10 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340685 | TATA | T | intron_variant | MODIFIER | HG01891.hp2 HG03453.hp1 HG03471.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0002g0027 a0001c0001t0003g0131 a0001c0001t0012g0149 others(4): Show |
7 | 263 | 0.0266 | -3 | c.-10 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340686 | ATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0015others(5): Show | a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0068 others(10): Show |
13 | 252 | 0.0516 | -3 | c.-10 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344498 | GTGT | G | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(25): Show |
a0001a0004a0006others(2): Show | a0001c0009a0004c0003a0006c0006others(2): Show | a0001c0009t0055a0004c0003t0007a0004c0003t0009others(13): Show | a0001c0009t0055g0104 a0004c0003t0007g0220 a0004c0003t0007g0234 others(25): Show |
28 | 266 | 0.1053 | -3 | c.62+ others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 376060 | CACT | C | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0016 | a0003c0004t0004g0002 a0003c0004t0004g0004 a0003c0004t0004g0008 others(2): Show |
7 | 266 | 0.0263 | -3 | c.245 others(18): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 397769 | CCGT | C | intron_variant | MODIFIER | HG01070.hp2 HG01358.hp1 HG01515.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0056a0002c0002t0010a0003c0004t0028 | a0001c0001t0056g0175 a0002c0002t0010g0015 a0003c0004t0028g0217 |
3 | 266 | 0.0113 | -3 | c.352 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 420408 | AAGG | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(16): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0016a0003c0004t0028others(1): Show | a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 others(14): Show |
19 | 266 | 0.0714 | -3 | c.442 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 430960 | GACC | G | intron_variant | MODIFIER | HG02273.hp1 HG02280.hp2 HG03130.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0044a0001c0001t0045others(1): Show | a0001c0001t0001g0141 a0001c0001t0001g0256 a0001c0001t0044g0026 others(3): Show |
6 | 266 | 0.0226 | -3 | c.909 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 8/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 438736 | CCTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(42): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 others(115): Show |
118 | 266 | 0.4436 | -3 | c.*39 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 452 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 441497 | CTTT | C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02273.hp1 HG02280.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0001g0141 a0001c0001t0007g0030 a0001c0001t0012g0149 others(3): Show |
6 | 18 | 0.3333 | -3 | c.*66 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 443229 | GGGC | G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02602.hp1 NA18945.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0056a0002c0002t0001 | a0001c0001t0003g0126 a0001c0001t0003g0171 a0001c0001t0003g0199 others(3): Show |
6 | 52 | 0.1154 | -3 | c.*83 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4945 | chr5 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77468721 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(113): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(31): Show |
116 | 165 | 0.7030 | -3 | c.844 others(18): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHSP_chr16_31522900_31533803 | 31527737 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(101): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0001g0002 |
104 | 359 | 0.2897 | -3 | c.-22 others(12): Show |
AHSP | ENSG00000169877.10 | transcript | ENST00000302312.9 | protein_coding | 162 | chr16 | TogoVar | |||||||
AHSP_chr16_31522900_31533803 | 31532696 | CTTT | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02559.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 a0002c0003t0001g0001 |
14 | 138 | 0.1014 | -3 | c.*40 others(14): Show |
AHSP | ENSG00000169877.10 | transcript | ENST00000302312.9 | protein_coding | 3894 | chr16 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8608611 | AAAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0231 a0001c0002t0001g0012 a0001c0002t0001g0232 others(4): Show |
11 | 456 | 0.0241 | -3 | c.9-1 others(16): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8608709 | TATC | T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0002g0059 a0001c0001t0003g0058 a0001c0001t0013g0057 others(4): Show |
7 | 456 | 0.0154 | -3 | c.9-1 others(16): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8616344 | ATTT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01993.hp2 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0007 a0001c0001t0003g0039 a0001c0001t0003g0040 others(7): Show |
11 | 29 | 0.3793 | -3 | c.-35 others(14): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3486 | chr12 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131108200 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(38): Show |
73 | 343 | 0.2128 | -3 | c.94- others(18): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131113497 | CAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG01884.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0079 others(18): Show |
24 | 36 | 0.6667 | -3 | c.161 others(20): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131115449 | CAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008a0001c0002t0023 | a0001c0001t0001g0172 a0001c0001t0001g0233 a0001c0002t0008g0044 others(2): Show |
6 | 31 | 0.1935 | -3 | c.202 others(18): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131119506 | GAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(225): Show |
317 | 332 | 0.9548 | -3 | c.366 others(18): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31613262 | CTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(3): Show |
126 | 227 | 0.5551 | -3 | c.-20 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 1971 | chr6 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31619368 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0003g0002 |
39 | 125 | 0.3120 | -3 | c.*24 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 2354 | chr6 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31621207 | CGTG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
360 | 436 | 0.8257 | -3 | c.*43 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 4193 | chr6 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31621296 | CCCT | C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01993.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 8 | 436 | 0.0183 | -3 | c.*43 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 4282 | chr6 | TogoVar |