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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH5A1_chr6_24489969_24542207 | 24521857 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(103): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0024others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0139 others(102): Show |
106 | 285 | 0.3719 | -7 | c.101 others(24): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH6A1_chr14_74051847_74089453 | 74080044 | ACAAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0048 others(4): Show |
10 | 400 | 0.0250 | -7 | c.48+ others(22): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01106.hp2 others(108): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(108): Show |
111 | 180 | 0.6167 | -7 | c.148 others(24): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126579993 | TTTAATTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01123.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0287 others(47): Show |
50 | 378 | 0.1323 | -7 | c.518 others(24): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49902477 | CTGTGTGG | C | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02451.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0002c0013others(2): Show | a0001c0002t0006a0001c0002t0024a0001c0008t0023others(3): Show | a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0111 others(12): Show |
20 | 339 | 0.0590 | -7 | c.*13 others(18): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1354 | chr22 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 94999343 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0025others(11): Show | a0001c0001t0007g0096 a0001c0001t0017g0296 a0001c0001t0017g0372 others(15): Show |
18 | 250 | 0.0720 | -7 | c.421 others(26): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36955686 | GAAAAAAA | G | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01192.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0031 others(23): Show |
28 | 200 | 0.1400 | -7 | c.774 others(24): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 8/9 | chr13 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63387532 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02615.hp2 others(16): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0324 a0001c0001t0003g0013 a0001c0001t0003g0168 others(15): Show |
19 | 135 | 0.1407 | -7 | c.83- others(22): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78113715 | ACAAAAAC | A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 NA18946.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0245 others(1): Show |
4 | 400 | 0.0100 | -7 | c.777 others(22): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 7/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78132833 | ATTTTTTT | A | intron_variant | MODIFIER | NA18944.hp2 NA18956.hp2 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | 170 | 0.0353 | -7 | c.96- others(22): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111865859 | ATGTGGCT | A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0293 others(8): Show |
11 | 312 | 0.0353 | -7 | c.406 others(22): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77703593 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp2 others(39): Show |
a0002a0003a0006 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0004a0002c0003t0006a0002c0003t0009others(3): Show | a0002c0002t0004g0008 a0002c0002t0004g0070 a0002c0002t0004g0071 others(34): Show |
42 | 244 | 0.1721 | -7 | c.292 others(22): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18201831 | AGATAGAT | A | intron_variant | MODIFIER | HG00544.hp1 HG02132.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0239 a0001c0001t0003g0073 a0001c0001t0003g0088 others(1): Show |
4 | 413 | 0.0097 | -7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18202307 | CAAAACAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0040 a0001c0001t0011g0061 a0001c0001t0011g0062 |
4 | 416 | 0.0096 | -7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18208488 | GTTTTTGT | G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0017 others(65): Show |
83 | 416 | 0.1995 | -7 | c.*11 others(16): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 4/4 | 112 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALKBH8_chr11_107497727_107570735 | 107511702 | AAGTAGCT | A | intron_variant | MODIFIER | HG00140.hp1 HG02683.hp2 HG03710.hp1 |
a0006 | a0006c0011a0006c0017 | a0006c0011t0001a0006c0017t0001 | a0006c0011t0001g0239 a0006c0011t0001g0240 a0006c0017t0001g0216 |
3 | 398 | 0.0075 | -7 | c.128 others(24): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29216948 | ATGTGATG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01074.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0040a0002c0055a0003c0003others(8): Show | a0001c0040t0001a0002c0055t0001a0003c0003t0002others(8): Show | a0001c0040t0001g0022 a0002c0055t0001g0031 a0003c0003t0002g0038 others(13): Show |
16 | 80 | 0.2000 | -7 | c.364 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 23/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29226478 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0006a0001c0009a0001c0025others(2): Show | a0001c0006t0007a0001c0009t0005a0001c0025t0011others(2): Show | a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0009t0005g0054 others(3): Show |
6 | 27 | 0.2222 | -7 | c.306 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 18/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29403709 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01109.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0009a0001c0038others(9): Show | a0001c0006t0001a0001c0009t0005a0001c0038t0001others(9): Show | a0001c0006t0001g0036 a0001c0009t0005g0018 a0001c0038t0001g0035 others(9): Show |
12 | 21 | 0.5714 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29416979 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01106.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0020a0002c0007others(6): Show | a0001c0009t0005a0001c0020t0005a0002c0007t0001others(6): Show | a0001c0009t0005g0018 a0001c0020t0005g0005 a0002c0007t0001g0066 others(6): Show |
9 | 59 | 0.1525 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29509927 | TTTGGGAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 |
a0001a0005a0007 | a0001c0025a0005c0013a0007c0057 | a0001c0025t0011a0005c0013t0004a0007c0057t0002 | a0001c0025t0011g0074 a0005c0013t0004g0020 a0007c0057t0002g0023 |
3 | 80 | 0.0375 | -7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29523858 | GTTTTTTT | G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0020a0001c0022a0001c0027others(10): Show | a0001c0020t0005a0001c0022t0001a0001c0027t0001others(10): Show | a0001c0020t0005g0005 a0001c0022t0001g0007 a0001c0027t0001g0013 others(10): Show |
13 | 16 | 0.8125 | -7 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29655025 | AAAAGCTG | A | intron_variant | MODIFIER | HG00738.hp2 HG02922.hp2 HG03540.hp2 |
a0001a0002 | a0001c0009a0001c0058a0002c0011 | a0001c0009t0005a0001c0058t0001a0002c0011t0001 | a0001c0009t0005g0018 a0001c0058t0001g0024 a0002c0011t0001g0051 |
3 | 80 | 0.0375 | -7 | c.952 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0017a0001c0051others(6): Show | a0001c0009t0005a0001c0017t0001a0001c0051t0001others(6): Show | a0001c0009t0005g0054 a0001c0017t0001g0012 a0001c0051t0001g0019 others(6): Show |
9 | 31 | 0.2903 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830966 | AGAAGAAG | A | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0040 | a0001c0004t0001a0001c0040t0001 | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0040t0001g0022 |
3 | 72 | 0.0417 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTTTTTT | G | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02572.hp1 others(8): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0006a0001c0009others(7): Show | a0001c0004t0001a0001c0006t0007a0001c0009t0005others(7): Show | a0001c0004t0001g0021 a0001c0006t0007g0056 a0001c0009t0005g0018 others(8): Show |
11 | 23 | 0.4783 | -7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29922509 | CAACACAG | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02647.hp2 others(1): Show |
a0001a0002a0003 | a0001c0048a0002c0008a0003c0005others(1): Show | a0001c0048t0001a0002c0008t0001a0003c0005t0002others(1): Show | a0001c0048t0001g0047 a0002c0008t0001g0045 a0003c0005t0002g0046 others(1): Show |
4 | 80 | 0.0500 | -7 | c.-18 others(18): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 924 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3657220 | TGAGAGAC | T | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0002others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0040 others(20): Show |
25 | 272 | 0.0919 | -7 | c.-11 others(18): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 979 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0002others(5): Show | a0001c0001t0001g0166 a0001c0001t0002g0020 a0001c0001t0002g0140 others(42): Show |
54 | 108 | 0.5000 | -7 | c.-62 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73383206 | TCCCTTTC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(136): Show |
a0001a0003a0004others(8): Show | a0001c0003a0001c0004a0001c0011others(45): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(45): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(136): Show |
139 | 246 | 0.5650 | -7 | c.-26 others(18): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2629 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73494356 | TACTGAAG | T | 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 | -7 | c.953 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73563740 | ATAAAAAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01070.hp2 others(103): Show |
a0001a0003a0007others(6): Show | a0001c0003a0001c0004a0001c0012others(36): Show | a0001c0003t0002a0001c0004t0001a0001c0012t0001others(36): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(103): Show |
106 | 245 | 0.4327 | -7 | c.103 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
a0001a0008a0013 | a0001c0003a0001c0004a0001c0011others(15): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(15): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(48): Show |
51 | 79 | 0.6456 | -7 | c.103 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8050878 | AAAGAGCT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02145.hp1 others(36): Show |
a0003a0017a0022 | a0003c0004a0003c0028a0017c0038others(1): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(3): Show | a0003c0004t0001g0044 a0003c0004t0001g0059 a0003c0004t0001g0104 others(34): Show |
39 | 468 | 0.0833 | -7 | c.*23 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1745 | chr17 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45391003 | CCCTCTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(178): Show |
204 | 344 | 0.5930 | -7 | c.350 others(24): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8098234 | GTTTTTTT | G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0012others(3): Show | a0001c0002t0001g0019 a0001c0002t0001g0256 a0001c0002t0001g0323 others(8): Show |
13 | 145 | 0.0897 | -7 | c.195 others(26): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107945 | GAAAGAAA | G | intron_variant | MODIFIER | HG02083.hp1 NA18993.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0075 a0001c0001t0002g0292 |
3 | 414 | 0.0072 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107958 | AAAGGAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01175.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0075 others(18): Show |
22 | 405 | 0.0543 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107991 | AAAGGAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp2 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0002g0043 a0001c0001t0002g0268 a0001c0001t0004g0388 others(15): Show |
18 | 415 | 0.0434 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58495030 | CTGCCCCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(74): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0014a0001c0023others(33): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(51): Show | a0001c0002t0001g0147 a0001c0002t0001g0174 a0001c0002t0001g0178 others(74): Show |
77 | 317 | 0.2429 | -7 | c.629 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502172 | ACACACAC | A | intron_variant | MODIFIER | HG02300.hp2 NA19077.hp2 NA19080.hp2 |
a0004a0011a0047 | a0004c0012a0011c0008a0047c0070 | a0004c0012t0001a0011c0008t0002a0047c0070t0002 | a0004c0012t0001g0195 a0011c0008t0002g0026 a0047c0070t0002g0039 |
3 | 318 | 0.0094 | -7 | c.624 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58514784 | CTTAAATA | C | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03130.hp1 others(4): Show |
a0013a0015a0023others(1): Show | a0013c0025a0015c0017a0015c0052others(3): Show | a0013c0025t0014a0015c0017t0012a0015c0017t0023others(4): Show | a0013c0025t0014g0111 a0015c0017t0012g0096 a0015c0017t0023g0139 others(4): Show |
7 | 318 | 0.0220 | -7 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58613710 | ATAATAAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02145.hp2 others(16): Show |
a0001a0003a0007others(6): Show | a0001c0002a0001c0083a0003c0004others(11): Show | a0001c0002t0004a0001c0083t0010a0003c0004t0003others(13): Show | a0001c0002t0004g0280 a0001c0083t0010g0103 a0003c0004t0003g0253 others(16): Show |
19 | 297 | 0.0640 | -7 | c.-20 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21554923 | TTTCTTTC | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01069.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 others(22): Show |
27 | 368 | 0.0734 | -7 | c.61+ others(20): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21576246 | GGATGGAT | G | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01192.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0005a0002c0002t0016 | a0001c0001t0009g0059 a0001c0001t0009g0139 a0001c0001t0009g0140 others(3): Show |
6 | 365 | 0.0164 | -7 | c.119 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46516423 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0062 others(12): Show |
15 | 99 | 0.1515 | -7 | c.207 others(26): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109511256 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG02165.hp1 HG03669.hp1 NA18940.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0006g0006 others(1): Show |
13 | 390 | 0.0333 | -7 | c.-19 others(18): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1530 | chr1 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00642.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(18): Show |
32 | 52 | 0.6154 | -7 | c.317 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94786566 | CTTCTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(233): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(224): Show |
236 | 244 | 0.9672 | -7 | c.50- others(22): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10482687 | ATATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0027 others(245): Show |
268 | 388 | 0.6907 | -7 | c.589 others(22): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |