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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1B_chr12_51946699_52002078 | 51993765 | T | TAAA | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0073 others(3): Show |
6 | 30 | 0.2000 | 3 | c.139 others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 52001369 | C | CAAA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01175.hp2 HG02055.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0189 others(23): Show |
26 | 172 | 0.1512 | 3 | c.*72 others(14): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4292 | chr12 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576203 | C | CTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG01192.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0035a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0035g0142 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | 129 | 0.2946 | 3 | c.304 others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630902 | C | CAAA | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG03130.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0002c0003t0007others(2): Show | a0001c0001t0003g0058 a0001c0002t0001g0119 a0002c0003t0007g0100 others(3): Show |
6 | 38 | 0.1579 | 3 | c.-22 others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2039 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157807854 | T | TGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(39): Show |
42 | 76 | 0.5526 | 3 | c.-7- others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157828449 | C | CAAA | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 NA18906.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0047 a0001c0001t0002g0076 a0001c0002t0003g0017 others(2): Show |
5 | 50 | 0.1000 | 3 | c.-18 others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157854199 | T | TAAA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0108 others(33): Show |
36 | 123 | 0.2927 | 3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01168.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0051 a0001c0001t0002g0039 a0001c0001t0002g0046 others(17): Show |
20 | 31 | 0.6452 | 3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0268 a0001c0001t0002g0269 a0001c0002t0001g0004 others(86): Show |
98 | 237 | 0.4135 | 3 | c.-74 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01934.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 others(6): Show |
9 | 67 | 0.1343 | 3 | c.-15 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147849844 | T | TAAG | intron_variant | MODIFIER | HG00408.hp1 HG03516.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0021a0001c0008t0004 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0123 others(3): Show |
6 | 336 | 0.0179 | 3 | c.55+ others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147888664 | G | GGCT | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0003 a0001c0001t0003g0020 a0001c0001t0003g0188 others(20): Show |
27 | 336 | 0.0804 | 3 | c.56- others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38467738 | C | CAAG | intron_variant | MODIFIER | HG01928.hp1 HG02647.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0061 | a0001c0001t0031g0053 a0001c0001t0031g0056 a0001c0001t0061g0075 |
3 | 408 | 0.0074 | 3 | c.53- others(18): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38471453 | T | TTGA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(173): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(51): Show | a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0023 others(103): Show |
176 | 408 | 0.4314 | 3 | c.53- others(18): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38492649 | A | ATAT | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0003 | 5 | 359 | 0.0139 | 3 | c.*93 others(14): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9318 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38494782 | C | CCTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(286): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(142): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 others(216): Show |
289 | 408 | 0.7083 | 3 | c.*11 others(16): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1641 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | C | CAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01358.hp2 HG01934.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(3): Show |
24 | 67 | 0.3582 | 3 | c.-17 others(14): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75057964 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0003 others(15): Show |
91 | 102 | 0.8922 | 3 | c.85- others(18): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75061076 | T | TCAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(131): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(29): Show |
134 | 309 | 0.4337 | 3 | c.84+ others(18): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062101 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0041 |
9 | 23 | 0.3913 | 3 | c.84+ others(18): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53973908 | T | TATA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 others(8): Show |
11 | 246 | 0.0447 | 3 | c.62+ others(14): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54004909 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0148 a0001c0002t0001g0072 a0001c0002t0002g0021 others(26): Show |
29 | 180 | 0.1611 | 3 | c.62+ others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54015323 | T | TCAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(14): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(116): Show |
119 | 270 | 0.4407 | 3 | c.63- others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54019609 | T | TTTA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 others(38): Show |
41 | 230 | 0.1783 | 3 | c.63- others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54036908 | G | GGAT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0250 a0001c0001t0001g0251 |
3 | 270 | 0.0111 | 3 | c.63- others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54049263 | A | AAAT | intron_variant | MODIFIER | HG01255.hp1 HG02572.hp1 HG02922.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 others(8): Show |
11 | 240 | 0.0458 | 3 | c.63- others(18): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54058309 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(45): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0137 others(45): Show |
48 | 54 | 0.8889 | 3 | c.277 others(18): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54075520 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0137 others(53): Show |
56 | 200 | 0.2800 | 3 | c.277 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54075520 | A | AAGG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0148 a0001c0001t0004g0126 a0001c0001t0004g0138 others(67): Show |
70 | 214 | 0.3271 | 3 | c.277 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54102638 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01099.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0125 a0001c0001t0001g0187 a0001c0001t0001g0204 others(14): Show |
17 | 22 | 0.7727 | 3 | 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 | 54144673 | C | CAAA | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(6): Show |
9 | 211 | 0.0427 | 3 | c.404 others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54152115 | C | CTTT | intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG02109.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0162 a0001c0002t0002g0011 a0001c0002t0002g0049 others(4): Show |
7 | 114 | 0.0614 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54153460 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0209 others(35): Show |
38 | 196 | 0.1939 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54177576 | A | ATTT | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01255.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0219 others(28): Show |
31 | 247 | 0.1255 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201595 | T | TTTC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01081.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 others(39): Show |
42 | 253 | 0.1660 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54201610 | T | TTTC | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0185 a0001c0002t0002g0035 a0001c0002t0005g0038 others(1): Show |
4 | 266 | 0.0150 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201614 | T | TTTC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01123.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 others(23): Show |
26 | 264 | 0.0985 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219905 | A | ATAT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00597.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0149 others(36): Show |
39 | 180 | 0.2167 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219905 | A | ATTT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01081.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0185 a0001c0001t0001g0209 others(5): Show |
8 | 149 | 0.0537 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219906 | T | TATA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01243.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0155 a0001c0001t0001g0160 others(10): Show |
13 | 267 | 0.0487 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54221520 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01515.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0114 a0001c0001t0001g0146 a0001c0001t0001g0148 others(23): Show |
26 | 122 | 0.2131 | 3 | c.404 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54266590 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0159 a0001c0001t0001g0196 a0001c0001t0001g0221 others(3): Show |
6 | 11 | 0.5455 | 3 | c.405 others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17178458 | A | AAAC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0005a0001c0003t0005others(1): Show | a0001c0001t0005g0066 a0001c0001t0005g0105 a0001c0001t0005g0106 others(18): Show |
21 | 304 | 0.0691 | 3 | c.*30 others(14): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 331 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17183955 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(37): Show | a0001c0001t0001g0168 a0001c0001t0005g0268 a0001c0001t0007g0053 others(96): Show |
99 | 135 | 0.7333 | 3 | c.108 others(22): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17190096 | C | CGTG | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0250 a0001c0001t0003g0297 others(5): Show |
8 | 406 | 0.0197 | 3 | c.882 others(16): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 5/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17193357 | G | GAAA | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0003a0001c0002t0010others(1): Show | a0001c0001t0003g0048 a0001c0001t0003g0297 a0001c0002t0003g0068 others(2): Show |
5 | 353 | 0.0142 | 3 | c.754 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17212956 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(192): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0025 others(188): Show |
195 | 296 | 0.6588 | 3 | c.-46 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17214039 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0119 others(42): Show |
46 | 151 | 0.3046 | 3 | c.-46 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17216771 | A | ACAC | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0002 | a0001c0001t0001g0308 a0001c0002t0001g0307 a0001c0004t0002g0306 |
3 | 93 | 0.0323 | 3 | c.-47 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ADAD1_chr4_122374011_122434784 | 122422956 | T | TAAA | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02040.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0153 others(9): Show |
17 | 175 | 0.0971 | 3 | c.161 others(22): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |