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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR8_chr3_53862066_53887152 | 53863821 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01981.hp1 HG02004.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0006 a0001c0001t0004g0009 a0001c0001t0004g0068 others(7): Show |
36 | 74 | 0.4865 | -5 | c.*48 others(16): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770275 | GTTATA | G | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03654.hp1 NA18946.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0038 others(2): Show |
5 | 415 | 0.0120 | -5 | c.-76 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 715 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAA | T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02132.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0186 others(16): Show |
21 | 45 | 0.4667 | -5 | c.139 others(22): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157541280 | ATAAAT | A | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | 214 | 0.0140 | -5 | c.110 others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(130): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(129): Show |
133 | 182 | 0.7308 | -5 | c.305 others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157613462 | AATATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | 214 | 0.1636 | -5 | c.73+ others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157732276 | CTCTTT | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | 172 | 0.0349 | -5 | c.*52 others(16): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4169 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157751692 | ACTTCC | A | intron_variant | MODIFIER | HG00438.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0129 a0001c0001t0012g0011 |
2 | 172 | 0.0116 | -5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157755523 | AATACC | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0002t0001g0024 others(13): Show |
16 | 76 | 0.2105 | -5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826651 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0008others(1): Show | a0001c0002t0001g0031 a0001c0003t0001g0019 a0001c0004t0008g0030 others(3): Show |
6 | 166 | 0.0361 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | GAAGGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0068 a0001c0001t0004g0164 a0001c0002t0001g0032 others(4): Show |
7 | 32 | 0.2188 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826864 | GGGAAA | G | intron_variant | MODIFIER | HG02698.hp1 HG03710.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0005g0006 |
3 | 119 | 0.0252 | -5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851898 | CACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 others(46): Show |
49 | 172 | 0.2849 | -5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG03486.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0013a0001c0002t0004others(1): Show | a0001c0001t0002g0069 a0001c0001t0002g0151 a0001c0001t0013g0165 others(2): Show |
5 | 12 | 0.4167 | -5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147908059 | AAAAAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0009 others(26): Show |
38 | 336 | 0.1131 | -5 | c.529 others(22): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38466311 | TAGCAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(15): Show | a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0018 others(36): Show |
58 | 408 | 0.1422 | -5 | c.53- others(22): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51914716 | TTTTAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0002g0062 a0001c0001t0004g0003 a0001c0001t0004g0019 others(24): Show |
60 | 216 | 0.2778 | -5 | c.772 others(20): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75057964 | CAAAAA | C | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0051 |
8 | 19 | 0.4211 | -5 | c.85- others(20): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54007160 | AAAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0001g0244 a0001c0001t0001g0254 others(5): Show |
8 | 270 | 0.0296 | -5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54010737 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(80): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(9): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 others(80): Show |
83 | 149 | 0.5570 | -5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54035009 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0146 others(36): Show |
39 | 123 | 0.3171 | -5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0009others(1): Show | a0001c0001t0001g0162 a0001c0001t0001g0221 a0001c0002t0003g0083 others(3): Show |
6 | 11 | 0.5455 | -5 | c.278 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54119051 | CTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(13): Show |
16 | 49 | 0.3265 | -5 | c.278 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54127750 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02109.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0001g0105 a0001c0001t0001g0142 a0001c0001t0001g0154 others(15): Show |
18 | 55 | 0.3273 | -5 | c.278 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54177901 | CTTTAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0148 others(52): Show |
55 | 193 | 0.2850 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54197942 | ATATTG | A | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01070.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0187 others(14): Show |
17 | 114 | 0.1491 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54199820 | CCACTG | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0263 others(5): Show |
8 | 270 | 0.0296 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202405 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(2): Show | a0001c0001t0001g0159 a0001c0001t0001g0196 a0001c0001t0001g0208 others(12): Show |
15 | 175 | 0.0857 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202706 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0235 a0001c0002t0002g0099 a0001c0002t0003g0087 others(2): Show |
5 | 24 | 0.2083 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54203250 | AATTTT | A | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0263 others(6): Show |
9 | 270 | 0.0333 | -5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54244724 | CTTGTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02040.hp2 HG02083.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0036 a0001c0002t0002g0037 others(4): Show |
7 | 270 | 0.0259 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54246512 | CCATTT | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0263 others(5): Show |
8 | 270 | 0.0296 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54248050 | GTTGTT | G | intron_variant | MODIFIER | HG01243.hp1 HG02965.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0001g0268 |
3 | 270 | 0.0111 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54260847 | TAAGAC | T | intron_variant | MODIFIER | HG02109.hp2 HG02976.hp1 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0005 a0003c0004t0007g0006 |
2 | 270 | 0.0074 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54262674 | ATTTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(117): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 others(117): Show |
120 | 270 | 0.4444 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54276654 | CACACA | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0002t0001g0071 others(2): Show |
5 | 270 | 0.0185 | -5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0108 others(5): Show |
8 | 12 | 0.6667 | -5 | c.-91 others(14): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122387134 | ATTTTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(303): Show |
371 | 374 | 0.9920 | -5 | c.529 others(22): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122395021 | TGTGTG | T | intron_variant | MODIFIER | NA18957.hp1 NA18961.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 |
3 | 374 | 0.0080 | -5 | c.599 others(22): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122407480 | ATTAAT | A | intron_variant | MODIFIER | HG01361.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show |
6 | 374 | 0.0160 | -5 | c.725 others(20): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43336444 | AGTAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(178): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(91): Show |
181 | 384 | 0.4714 | -5 | c.195 others(20): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0028a0001c0001t0056others(1): Show | a0001c0001t0008g0191 a0001c0001t0008g0209 a0001c0001t0008g0215 others(8): Show |
11 | 15 | 0.7333 | -5 | c.*43 others(16): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4393 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58720404 | ATTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0026others(5): Show | a0001c0001t0015g0335 a0001c0001t0015g0338 a0001c0001t0015g0339 others(10): Show |
13 | 315 | 0.0413 | -5 | c.56- others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58729963 | AAAAAC | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0026others(4): Show | a0001c0001t0015g0335 a0001c0001t0015g0338 a0001c0001t0015g0339 others(9): Show |
12 | 340 | 0.0353 | -5 | c.56- others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58735400 | GAATAA | G | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0062a0001c0001t0063a0001c0001t0064 | a0001c0001t0062g0195 a0001c0001t0063g0257 a0001c0001t0064g0194 |
3 | 340 | 0.0088 | -5 | c.55+ others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58740131 | AGCTCG | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0026others(4): Show | a0001c0001t0015g0335 a0001c0001t0015g0338 a0001c0001t0015g0339 others(9): Show |
12 | 340 | 0.0353 | -5 | c.55+ others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44765610 | CTTTTT | C | intron_variant | MODIFIER | HG01433.hp2 HG02273.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0006 | a0001c0001t0001g0080 a0001c0001t0001g0204 a0001c0002t0004g0015 others(3): Show |
9 | 46 | 0.1957 | -5 | c.238 others(22): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44770495 | CCCCCG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(84): Show |
136 | 334 | 0.4072 | -5 | c.381 others(20): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126035458 | GCAAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp2 others(23): Show |
a0001a0002a0004 | a0001c0003a0001c0009a0001c0014others(5): Show | a0001c0003t0003a0001c0003t0031a0001c0003t0038others(9): Show | a0001c0003t0003g0081 a0001c0003t0003g0193 a0001c0003t0003g0198 others(23): Show |
26 | 250 | 0.1040 | -5 | c.252 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126106483 | CTTCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG02040.hp2 others(9): Show |
a0001a0002a0006 | a0001c0009a0001c0033a0002c0011others(3): Show | a0001c0009t0003a0001c0009t0013a0001c0033t0001others(5): Show | a0001c0009t0003g0218 a0001c0009t0003g0223 a0001c0009t0013g0134 others(9): Show |
12 | 249 | 0.0482 | -5 | c.741 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 8/22 | chr10 | TogoVar |