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 | 29750630 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0017a0001c0022a0001c0039others(8): Show | a0001c0017t0001a0001c0022t0001a0001c0039t0013others(8): Show | a0001c0017t0001g0012 a0001c0022t0001g0007 a0001c0039t0013g0079 others(9): Show |
12 | 40 | 0.3000 | -12 | c.668 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29750689 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0008 | 1 | 74 | 0.0135 | -12 | c.668 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29750693 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0054 | a0003c0054t0002 | a0003c0054t0002g0069 | 1 | 58 | 0.0172 | -12 | c.668 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29785912 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG03453.hp2 |
a0001a0004 | a0001c0016a0001c0058a0004c0045 | a0001c0016t0007a0001c0058t0001a0004c0045t0002 | a0001c0016t0007g0004 a0001c0058t0001g0024 a0004c0045t0002g0043 |
3 | 19 | 0.1579 | -12 | c.668 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0051 | 1 | 23 | 0.0435 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830713 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0013 | 1 | 57 | 0.0175 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAGAAGA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02622.hp2 |
a0001a0002 | a0001c0022a0001c0050a0002c0001 | a0001c0022t0001a0001c0050t0014a0002c0001t0001 | a0001c0022t0001g0007 a0001c0050t0014g0077 a0002c0001t0001g0061 |
3 | 27 | 0.1111 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831070 | GGGAGGAG others(5): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03139.hp2 |
a0003 | a0003c0010a0003c0026 | a0003c0010t0006a0003c0026t0002 | a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0026t0002g0015 |
3 | 32 | 0.0938 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831241 | AGAAGAGG others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0022 | 1 | 73 | 0.0137 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29876771 | ATGGTGAT others(5): Show |
A | intron_variant | MODIFIER | HG03209.hp2 NA20300.hp2 |
a0001a0002 | a0001c0006a0002c0047 | a0001c0006t0007a0002c0047t0001 | a0001c0006t0007g0056 a0002c0047t0001g0055 |
2 | 80 | 0.0250 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889687 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp2 |
a0001a0003 | a0001c0009a0003c0026 | a0001c0009t0005a0003c0026t0002 | a0001c0009t0005g0054 a0003c0026t0002g0015 |
2 | 54 | 0.0370 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG02280.hp1 |
a0001a0004 | a0001c0020a0001c0033a0004c0042 | a0001c0020t0005a0001c0033t0001a0004c0042t0003 | a0001c0020t0005g0005 a0001c0033t0001g0029 a0004c0042t0003g0073 |
3 | 38 | 0.0789 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894841 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01074.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0033a0001c0050others(13): Show | a0001c0009t0005a0001c0033t0001a0001c0050t0014others(13): Show | a0001c0009t0005g0054 a0001c0033t0001g0029 a0001c0050t0014g0077 others(17): Show |
20 | 80 | 0.2500 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29900995 | GAGCAAGC others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 NA19240.hp2 |
a0001a0002a0005 | a0001c0009a0002c0028a0005c0046 | a0001c0009t0005a0002c0028t0001a0005c0046t0004 | a0001c0009t0005g0054 a0002c0028t0001g0014 a0005c0046t0004g0053 |
3 | 45 | 0.0667 | -12 | c.667 others(31): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3665311 | TTTTTAAA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 272 | 0.0037 | -12 | c.-62 others(29): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690306 | TCCCCCTC others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0064 others(6): Show |
9 | 243 | 0.0370 | -12 | c.512 others(29): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3697617 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0139 | 1 | 247 | 0.0040 | -12 | c.850 others(27): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3697621 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0040 a0003c0003t0002g0221 |
2 | 129 | 0.0155 | -12 | c.850 others(27): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73394992 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp1 |
a0001a0003 | a0001c0004a0003c0002 | a0001c0004t0001a0003c0002t0001 | a0001c0004t0001g0041 a0003c0002t0001g0093 |
2 | 193 | 0.0104 | -12 | c.324 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73408864 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0184 | 1 | 111 | 0.0090 | -12 | c.450 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73478656 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp2 |
a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0119 a0012c0029t0001g0120 |
2 | 128 | 0.0156 | -12 | c.767 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73508091 | GTTTTCTT others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0165 | 1 | 245 | 0.0041 | -12 | c.954 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73551425 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA18969.hp2 NA19240.hp2 |
a0001a0003a0012 | a0001c0004a0003c0002a0012c0029 | a0001c0004t0001a0003c0002t0001a0012c0029t0001 | a0001c0004t0001g0039 a0003c0002t0001g0063 a0012c0029t0001g0120 |
3 | 141 | 0.0213 | -12 | c.100 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73562141 | TTGTATGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp2 HG02895.hp1 others(5): Show |
a0004a0018 | a0004c0008a0004c0032a0018c0033 | a0004c0008t0001a0004c0032t0001a0018c0033t0001 | a0004c0008t0001g0231 a0004c0008t0001g0232 a0004c0008t0001g0233 others(5): Show |
8 | 197 | 0.0406 | -12 | c.103 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
a0010a0019 | a0010c0017a0010c0030a0019c0031 | a0010c0017t0003a0010c0030t0001a0019c0031t0001 | a0010c0017t0003g0224 a0010c0017t0003g0225 a0010c0030t0001g0227 others(1): Show |
4 | 32 | 0.1250 | -12 | c.103 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8078115 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01255.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0206 a0001c0001t0002g0094 others(6): Show |
15 | 216 | 0.0694 | -12 | c.107 others(29): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | |||||||
ALOX12B_chr17_8067636_8092716 | 8087227 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00642.hp1 others(86): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0051 others(50): Show |
89 | 452 | 0.1969 | -12 | c.147 others(25): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8044105 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(30): Show |
a0001a0014 | a0001c0005a0001c0047a0014c0024 | a0001c0005t0004a0001c0005t0008a0001c0005t0014others(3): Show | a0001c0005t0004g0001 a0001c0005t0004g0082 a0001c0005t0008g0001 others(4): Show |
33 | 240 | 0.1375 | -12 | c.677 others(27): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052705 | CAGATAGA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0001 | 1 | 293 | 0.0034 | -12 | c.*41 others(23): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3572 | chr17 | TogoVar | |||||||
ALOX15_chr17_4625919_4646678 | 4628210 | TTTACATT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 470 | 0.0021 | -12 | c.*33 others(23): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2708 | chr17 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(51): Show |
90 | 93 | 0.9677 | -12 | c.71- others(27): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45374099 | TGCGGGGG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01192.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0036 a0001c0001t0002g0304 a0001c0001t0002g0305 others(29): Show |
36 | 246 | 0.1463 | -12 | c.-18 others(21): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45431548 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18962.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0069 a0001c0004t0001g0177 |
2 | 240 | 0.0083 | -12 | c.981 others(29): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8093870 | TAATAAAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0101 others(10): Show |
13 | 113 | 0.1150 | -12 | c.*27 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107810 | CAAGAAAG others(5): Show |
C | intron_variant | MODIFIER | NA18966.hp2 NA18998.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 a0001c0002t0001g0327 |
2 | 377 | 0.0053 | -12 | c.168 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107961 | GGAAGGAG others(5): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 392 | 0.0026 | -12 | c.168 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG01975.hp2 HG01978.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0179 a0001c0001t0002g0010 a0001c0001t0002g0191 others(8): Show |
12 | 248 | 0.0484 | -12 | c.168 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8120255 | CTCACAGA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(90): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0033 a0001c0001t0002g0011 a0001c0001t0002g0240 others(84): Show |
93 | 420 | 0.2214 | -12 | c.-20 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1742 | chr17 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02257.hp1 others(6): Show |
a0001a0003a0044 | a0001c0023a0001c0077a0003c0020others(4): Show | a0001c0023t0001a0001c0023t0013a0001c0077t0005others(5): Show | a0001c0023t0001g0137 a0001c0023t0013g0092 a0001c0077t0005g0271 others(6): Show |
9 | 146 | 0.0616 | -12 | c.624 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58557707 | TTTTGTCA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0116 | 1 | 318 | 0.0031 | -12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565324 | TAAGAGAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0079a0002c0001others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(13): Show | a0001c0002t0001g0126 a0001c0002t0001g0174 a0001c0002t0001g0185 others(30): Show |
33 | 318 | 0.1038 | -12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565731 | GTTCCTTC others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG02300.hp2 others(9): Show |
a0003a0004a0011others(2): Show | a0003c0067a0003c0068a0004c0003others(5): Show | a0003c0067t0009a0003c0068t0002a0004c0003t0016others(6): Show | a0003c0067t0009g0042 a0003c0068t0002g0076 a0004c0003t0016g0261 others(9): Show |
12 | 186 | 0.0645 | -12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565762 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0017others(1): Show | a0001c0080a0003c0020a0003c0021others(2): Show | a0001c0080t0001a0003c0020t0003a0003c0020t0008others(4): Show | a0001c0080t0001g0300 a0003c0020t0003g0258 a0003c0020t0008g0143 others(5): Show |
8 | 318 | 0.0252 | -12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58565766 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0019 | a0003c0019t0005 | a0003c0019t0005g0141 | 1 | 246 | 0.0041 | -12 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84847208 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(51): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0002c0012others(11): Show | a0001c0001t0008a0001c0001t0011a0001c0001t0012others(15): Show | a0001c0001t0008g0021 a0001c0001t0008g0100 a0001c0001t0011g0101 others(42): Show |
54 | 111 | 0.4865 | -12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847238 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0227 | 1 | 338 | 0.0030 | -12 | c.165 others(31): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | chr15 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84877865 | TGATAGAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(37): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0026others(17): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0029 others(36): Show |
40 | 109 | 0.3670 | -12 | c.*94 others(23): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | |||||||
ALPL_chr1_21504423_21583410 | 21551719 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG01433.hp2 |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0016 | a0002c0002t0005g0274 a0002c0002t0005g0275 a0002c0002t0016g0276 |
3 | 87 | 0.0345 | -12 | c.-10 others(31): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGTCTG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0024 a0001c0001t0002g0069 a0001c0001t0002g0086 others(29): Show |
33 | 94 | 0.3511 | -12 | c.61+ others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554807 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0143 others(1): Show |
4 | 278 | 0.0144 | -12 | c.61+ others(25): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |