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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALK_chr2_29187774_29926586 | 29768713 | C | CTATGTG | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02257.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0004a0001c0027a0001c0035others(7): Show | a0001c0004t0008a0001c0027t0001a0001c0035t0001others(7): Show | a0001c0004t0008g0003 a0001c0027t0001g0013 a0001c0035t0001g0068 others(8): Show |
11 | 32 | 0.3438 | 6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29768741 | G | GTATATA | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 |
a0001a0006 | a0001c0037a0006c0029 | a0001c0037t0005a0006c0029t0001 | a0001c0037t0005g0028 a0006c0029t0001g0016 |
2 | 78 | 0.0256 | 6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29773233 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01074.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(10): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(11): Show | a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0006t0001g0036 others(11): Show |
14 | 74 | 0.1892 | 6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29789015 | C | CTGTGTG | intron_variant | MODIFIER | HG01074.hp2 HG02622.hp1 HG02622.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0050a0002c0049a0003c0043others(1): Show | a0001c0050t0014a0002c0049t0001a0003c0043t0002others(1): Show | a0001c0050t0014g0077 a0002c0049t0001g0072 a0003c0043t0002g0039 others(1): Show |
4 | 21 | 0.1905 | 6 | c.668 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830955 | A | AAAGAAG | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 |
a0001a0005 | a0001c0058a0005c0021 | a0001c0058t0001a0005c0021t0004 | a0001c0058t0001g0024 a0005c0021t0004g0006 |
2 | 26 | 0.0769 | 6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831174 | A | AGGAAGG | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03209.hp2 others(2): Show |
a0001a0002a0004 | a0001c0006a0001c0022a0002c0036others(2): Show | a0001c0006t0007a0001c0022t0001a0002c0036t0015others(2): Show | a0001c0006t0007g0056 a0001c0022t0001g0007 a0002c0036t0015g0080 others(2): Show |
5 | 69 | 0.0725 | 6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831259 | G | GGAAGAA | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 NA19240.hp1 |
a0001a0005a0008 | a0001c0017a0005c0021a0008c0044 | a0001c0017t0001a0005c0021t0004a0008c0044t0012 | a0001c0017t0001g0012 a0005c0021t0004g0006 a0008c0044t0012g0078 |
3 | 16 | 0.1875 | 6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909480 | C | CAGAGAG | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01109.hp1 others(4): Show |
a0001a0002a0003 | a0001c0039a0002c0001a0002c0011others(3): Show | a0001c0039t0013a0002c0001t0001a0002c0011t0001others(3): Show | a0001c0039t0013g0079 a0002c0001t0001g0027 a0002c0001t0001g0033 others(4): Show |
7 | 29 | 0.2414 | 6 | c.667 others(25): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690266 | C | CCCCCCT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02723.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0003c0003t0001g0038 others(7): Show |
10 | 272 | 0.0368 | 6 | c.512 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690348 | T | TCCCCTC | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG02738.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 | 3 | 223 | 0.0135 | 6 | c.512 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73385903 | T | TGGAGGA | disruptive_inframe_insertion | MODERATE | HG00738.hp2 HG01257.hp2 HG01433.hp1 others(10): Show |
a0006a0020 | a0006c0006a0006c0074a0020c0075 | a0006c0006t0001a0006c0074t0001a0020c0075t0001 | a0006c0006t0001g0122 a0006c0006t0001g0127 a0006c0006t0001g0131 others(10): Show |
13 | 28 | 0.4643 | 6 | c.69_ others(11): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ALMS1_chr2_73380836_73614916 | 73391294 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(4): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0232 a0004c0008t0001g0233 a0004c0008t0001g0234 others(4): Show |
7 | 121 | 0.0579 | 6 | c.324 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73396303 | T | TACACAC | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01106.hp1 others(3): Show |
a0002a0019a0022 | a0002c0001a0002c0066a0002c0073others(2): Show | a0002c0001t0001a0002c0066t0001a0002c0073t0001others(2): Show | a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0066t0001g0132 others(3): Show |
6 | 192 | 0.0313 | 6 | c.324 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01175.hp1 others(13): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0004a0003c0002others(3): Show | a0001c0003t0002a0001c0004t0001a0003c0002t0001others(3): Show | a0001c0003t0002g0070 a0001c0003t0002g0076 a0001c0003t0002g0077 others(13): Show |
16 | 106 | 0.1509 | 6 | c.325 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73441610 | A | ACTATTC | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0004a0005a0010others(2): Show | a0004c0008a0004c0032a0005c0005others(5): Show | a0004c0008t0001a0004c0032t0001a0005c0005t0001others(5): Show | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(22): Show |
25 | 143 | 0.1748 | 6 | c.143 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01167.hp1 others(36): Show |
a0001a0002a0004others(5): Show | a0001c0003a0001c0022a0001c0023others(13): Show | a0001c0003t0002a0001c0022t0001a0001c0023t0001others(13): Show | a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0022t0001g0200 others(36): Show |
39 | 80 | 0.4875 | 6 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(39): Show |
a0001a0004a0005others(2): Show | a0001c0004a0001c0011a0001c0018others(14): Show | a0001c0004t0001a0001c0011t0001a0001c0018t0001others(14): Show | a0001c0004t0001g0031 a0001c0004t0001g0036 a0001c0004t0001g0038 others(39): Show |
42 | 82 | 0.5122 | 6 | c.767 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73474403 | G | GTGTGTC | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(18): Show |
a0001 | a0001c0004a0001c0013a0001c0020others(10): Show | a0001c0004t0001a0001c0013t0001a0001c0020t0001others(10): Show | a0001c0004t0001g0031 a0001c0004t0001g0041 a0001c0004t0001g0052 others(18): Show |
21 | 205 | 0.1024 | 6 | c.767 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73508129 | T | TCCTTTC | intron_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0020a0001c0040a0001c0051 | a0001c0020t0001a0001c0040t0001a0001c0051t0001 | a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0040t0001g0207 others(1): Show |
4 | 246 | 0.0163 | 6 | c.954 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TACACAC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(50): Show |
a0001a0003a0008others(5): Show | a0001c0003a0001c0004a0001c0025others(10): Show | a0001c0003t0002a0001c0004t0001a0001c0025t0001others(10): Show | a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0068 others(50): Show |
53 | 106 | 0.5000 | 6 | c.954 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG02055.hp2 others(5): Show |
a0001a0005a0010 | a0001c0004a0001c0023a0001c0050others(2): Show | a0001c0004t0001a0001c0023t0001a0001c0050t0001others(2): Show | a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0023t0001g0196 others(5): Show |
8 | 103 | 0.0777 | 6 | c.115 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001a0013a0016 | a0001c0003a0001c0004a0001c0011others(25): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(25): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0068 others(70): Show |
73 | 190 | 0.3842 | 6 | c.115 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGG | intron_variant | MODIFIER | HG01074.hp2 NA18959.hp1 NA18959.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0056 others(3): Show |
8 | 38 | 0.2105 | 6 | c.141 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4634959 | C | CAATAAT | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0015 a0001c0001t0002g0102 a0001c0002t0002g0138 others(1): Show |
7 | 120 | 0.0583 | 6 | c.116 others(23): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 8/13 | chr17 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45374099 | T | TGCGGGG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(16): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0005c0014others(1): Show | a0001c0001t0001a0001c0004t0001a0005c0014t0001others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0046 others(15): Show |
19 | 229 | 0.0830 | 6 | c.-18 others(15): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45384833 | C | CTATTAT | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0070 a0001c0004t0001g0038 a0001c0004t0001g0039 others(2): Show |
5 | 318 | 0.0157 | 6 | c.349 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391077 | G | GTCTCCC | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0215 others(4): Show |
7 | 136 | 0.0515 | 6 | c.350 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45409509 | G | GTCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(96): Show |
112 | 215 | 0.5209 | 6 | c.432 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094241 | G | GACACAC | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG02165.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0002g0343 a0001c0002t0001g0032 a0001c0002t0001g0066 others(12): Show |
16 | 68 | 0.2353 | 6 | c.*23 others(17): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1658 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8113654 | A | AAACAAC | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(6): Show |
9 | 420 | 0.0214 | 6 | c.680 others(21): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112418748 | A | AAATGAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(212): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0007others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0046 others(211): Show |
215 | 304 | 0.7072 | 6 | c.476 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(53): Show |
a0001a0002a0018others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0042 others(53): Show |
56 | 138 | 0.4058 | 6 | c.353 others(21): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478606 | G | GTATATA | downstream_gene_variant | MODIFIER | HG03516.hp1 HG03834.hp1 HG04115.hp1 |
a0001a0002a0009 | a0001c0002a0002c0006a0009c0007 | a0001c0002t0005a0002c0006t0009a0009c0007t0001 | a0001c0002t0005g0307 a0002c0006t0009g0045 a0009c0007t0001g0285 |
3 | 267 | 0.0112 | 6 | c.*32 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2640 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58479164 | A | ATATTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02257.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0002a0003c0004a0004c0003others(6): Show | a0001c0002t0004a0003c0004t0004a0004c0003t0004others(6): Show | a0001c0002t0004g0297 a0003c0004t0004g0207 a0004c0003t0004g0203 others(9): Show |
12 | 208 | 0.0577 | 6 | c.*26 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2082 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58484752 | T | TATAATA | intron_variant | MODIFIER | HG01981.hp1 HG02145.hp1 HG02148.hp2 others(17): Show |
a0003a0005a0006others(11): Show | a0003c0020a0005c0005a0006c0043others(13): Show | a0003c0020t0008a0005c0005t0015a0006c0043t0008others(13): Show | a0003c0020t0008g0143 a0005c0005t0015g0022 a0006c0043t0008g0159 others(17): Show |
20 | 102 | 0.1961 | 6 | c.629 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58487177 | T | TTACAGA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(156): Show |
a0001a0002a0003others(23): Show | a0001c0002a0001c0079a0001c0080others(43): Show | a0001c0002t0001a0001c0002t0002a0001c0079t0001others(58): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(156): Show |
159 | 318 | 0.5000 | 6 | c.629 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACAC | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02015.hp2 others(13): Show |
a0003a0004a0011others(5): Show | a0003c0004a0003c0067a0003c0068others(8): Show | a0003c0004t0003a0003c0067t0009a0003c0068t0002others(11): Show | a0003c0004t0003g0253 a0003c0067t0009g0042 a0003c0068t0002g0076 others(13): Show |
16 | 164 | 0.0976 | 6 | c.196 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCACACA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01109.hp2 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0002a0003c0004a0004c0003others(2): Show | a0001c0002t0002a0003c0004t0002a0004c0003t0002others(2): Show | a0001c0002t0002g0072 a0003c0004t0002g0067 a0004c0003t0002g0059 others(2): Show |
5 | 17 | 0.2941 | 6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02630.hp2 others(3): Show |
a0009a0013a0026 | a0009c0007a0013c0025a0013c0036others(1): Show | a0009c0007t0011a0013c0025t0010a0013c0025t0014others(2): Show | a0009c0007t0011g0112 a0013c0025t0010g0110 a0013c0025t0014g0109 others(3): Show |
6 | 18 | 0.3333 | 6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01243.hp1 others(71): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0029 others(55): Show |
74 | 155 | 0.4774 | 6 | c.305 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGAGA | intron_variant | MODIFIER | HG01256.hp2 HG02257.hp2 HG02886.hp1 others(3): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0022others(3): Show | a0001c0001t0005a0001c0004t0015a0001c0022t0019others(3): Show | a0001c0001t0005g0169 a0001c0004t0015g0086 a0001c0022t0019g0104 others(3): Show |
6 | 63 | 0.0952 | 6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATACAC | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0004a0001c0044a0002c0006others(3): Show | a0001c0004t0006a0001c0044t0006a0002c0006t0032others(3): Show | a0001c0004t0006g0109 a0001c0044t0006g0174 a0002c0006t0032g0188 others(4): Show |
7 | 185 | 0.0378 | 6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21515870 | T | TTTGTTG | intron_variant | MODIFIER | HG02723.hp2 NA18995.hp1 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0175 a0002c0002t0001g0176 a0002c0002t0004g0177 |
3 | 24 | 0.1250 | 6 | c.-10 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21545275 | T | TTTTTTG | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0001 | a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0007g0110 others(2): Show |
5 | 368 | 0.0136 | 6 | c.-10 others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554325 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0220 a0001c0001t0003g0266 a0001c0001t0003g0328 others(4): Show |
7 | 174 | 0.0402 | 6 | c.61+ others(19): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
a0002 | a0002c0002a0002c0005a0002c0006others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0028 others(6): Show |
14 | 273 | 0.0513 | 6 | c.*32 others(17): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201706535 | T | TTATATA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(46): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0001a0001c0003t0007a0004c0008t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(42): Show |
49 | 76 | 0.6447 | 6 | c.458 others(23): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 29/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201713133 | C | CTTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0010 | a0001c0003a0001c0004a0002c0006others(1): Show | a0001c0003t0007a0001c0004t0001a0002c0006t0001others(1): Show | a0001c0003t0007g0040 a0001c0004t0001g0004 a0001c0004t0001g0044 others(9): Show |
13 | 212 | 0.0613 | 6 | c.400 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201719590 | A | AAAAAAT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp1 others(53): Show |
a0001a0006a0011 | a0001c0002a0001c0003a0006c0012others(1): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0002t0001g0121 a0001c0003t0002g0003 a0001c0003t0002g0009 others(48): Show |
56 | 207 | 0.2705 | 6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201748204 | T | TTGTGTG | intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 others(1): Show |
4 | 351 | 0.0114 | 6 | c.181 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 8/33 | chr2 | TogoVar |