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 | 29288958 | ATAAAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02004.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0009a0001c0020others(5): Show | a0001c0004t0001a0001c0009t0005a0001c0020t0005others(5): Show | a0001c0004t0001g0037 a0001c0009t0005g0054 a0001c0020t0005g0005 others(6): Show |
9 | 79 | 0.1139 | -5 | c.181 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29326543 | GCAGGA | G | intron_variant | MODIFIER | HG01074.hp2 NA19043.hp1 |
a0001a0002 | a0001c0004a0002c0049 | a0001c0004t0001a0002c0049t0001 | a0001c0004t0001g0037 a0002c0049t0001g0072 |
2 | 80 | 0.0250 | -5 | c.141 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 6/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29375299 | CTATTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01433.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0025a0002c0001a0002c0007others(5): Show | a0001c0025t0011a0002c0001t0001a0002c0007t0001others(5): Show | a0001c0025t0011g0074 a0002c0001t0001g0027 a0002c0007t0001g0066 others(6): Show |
9 | 80 | 0.1125 | -5 | c.128 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29403709 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(2): Show |
a0001a0005a0007 | a0001c0004a0001c0006a0001c0025others(2): Show | a0001c0004t0001a0001c0006t0007a0001c0025t0011others(2): Show | a0001c0004t0001g0021 a0001c0006t0007g0056 a0001c0025t0011g0074 others(2): Show |
5 | 14 | 0.3571 | -5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29404307 | CAAAAA | 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 | 22 | 0.5455 | -5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29446098 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02895.hp2 others(1): Show |
a0001a0003a0005others(1): Show | a0001c0025a0003c0010a0005c0013others(1): Show | a0001c0025t0011a0003c0010t0006a0005c0013t0004others(1): Show | a0001c0025t0011g0074 a0003c0010t0006g0001 a0005c0013t0004g0020 others(1): Show |
4 | 26 | 0.1538 | -5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29508733 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00738.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0001c0023others(11): Show | a0001c0004t0001a0001c0009t0005a0001c0023t0010others(11): Show | a0001c0004t0001g0037 a0001c0009t0005g0018 a0001c0023t0010g0076 others(11): Show |
14 | 24 | 0.5833 | -5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29530062 | CTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02004.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0009others(12): Show | a0001c0004t0008a0001c0006t0001a0001c0009t0005others(12): Show | a0001c0004t0008g0003 a0001c0006t0001g0026 a0001c0009t0005g0018 others(17): Show |
20 | 32 | 0.6250 | -5 | c.115 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29571602 | CTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0039a0001c0040others(10): Show | a0001c0004t0001a0001c0004t0008a0001c0039t0013others(11): Show | a0001c0004t0001g0021 a0001c0004t0008g0003 a0001c0039t0013g0079 others(13): Show |
16 | 33 | 0.4848 | -5 | c.953 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29636337 | GAAAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp2 others(9): Show |
a0001a0002a0003 | a0001c0006a0001c0033a0001c0038others(8): Show | a0001c0006t0001a0001c0006t0007a0001c0033t0001others(9): Show | a0001c0006t0001g0036 a0001c0006t0007g0056 a0001c0033t0001g0029 others(9): Show |
12 | 36 | 0.3333 | -5 | c.952 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29653507 | CTAACT | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02486.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0048a0001c0051a0002c0008others(5): Show | a0001c0048t0001a0001c0051t0001a0002c0008t0001others(5): Show | a0001c0048t0001g0047 a0001c0051t0001g0019 a0002c0008t0001g0045 others(5): Show |
8 | 80 | 0.1000 | -5 | c.952 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29677235 | TCTCCC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(30): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(31): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(41): Show |
44 | 66 | 0.6667 | -5 | c.952 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29735413 | CAACTT | C | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 |
a0002a0004 | a0002c0049a0004c0042 | a0002c0049t0001a0004c0042t0003 | a0002c0049t0001g0072 a0004c0042t0003g0073 |
2 | 80 | 0.0250 | -5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29802394 | CAGGGG | C | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 |
a0001 | a0001c0006a0001c0038 | a0001c0006t0001a0001c0038t0001 | a0001c0006t0001g0036 a0001c0038t0001g0035 |
2 | 70 | 0.0286 | -5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29802439 | GAGGGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp2 others(7): Show |
a0001a0002a0003 | a0001c0023a0001c0033a0002c0001others(4): Show | a0001c0023t0010a0001c0033t0001a0002c0001t0001others(4): Show | a0001c0023t0010g0076 a0001c0033t0001g0029 a0002c0001t0001g0033 others(7): Show |
10 | 79 | 0.1266 | -5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG02622.hp2 HG02895.hp1 others(1): Show |
a0001a0004 | a0001c0039a0001c0050a0001c0053others(1): Show | a0001c0039t0013a0001c0050t0014a0001c0053t0001others(1): Show | a0001c0039t0013g0079 a0001c0050t0014g0077 a0001c0053t0001g0070 others(1): Show |
4 | 26 | 0.1538 | -5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831076 | AGGAGG | A | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG03041.hp1 others(2): Show |
a0001a0003a0008 | a0001c0009a0001c0017a0001c0050others(2): Show | a0001c0009t0005a0001c0017t0001a0001c0050t0014others(2): Show | a0001c0009t0005g0054 a0001c0017t0001g0012 a0001c0050t0014g0077 others(2): Show |
5 | 80 | 0.0625 | -5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29906937 | GTTTTT | G | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02895.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0039a0001c0050a0002c0007others(5): Show | a0001c0039t0013a0001c0050t0014a0002c0007t0001others(5): Show | a0001c0039t0013g0079 a0001c0050t0014g0077 a0002c0007t0001g0064 others(6): Show |
9 | 21 | 0.4286 | -5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3668566 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp2 others(22): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0044 others(19): Show |
25 | 79 | 0.3165 | -5 | c.-62 others(22): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690319 | CCCCCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(5): Show |
8 | 232 | 0.0345 | -5 | c.512 others(22): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690359 | CCCCCT | C | intron_variant | MODIFIER | HG01106.hp2 HG01517.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0056 others(1): Show |
4 | 259 | 0.0154 | -5 | c.512 others(22): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704704 | GGGGGA | G | downstream_gene_variant | MODIFIER | HG01123.hp2 HG02559.hp2 HG02723.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0013a0004c0004others(1): Show | a0001c0001t0001a0002c0013t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0002c0013t0002g0031 others(5): Show |
8 | 271 | 0.0295 | -5 | c.*21 others(16): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 2034 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73395076 | ATATTT | A | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp1 HG02630.hp1 others(4): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(4): Show |
7 | 211 | 0.0332 | -5 | c.324 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73483460 | TTTTAC | T | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG03516.hp2 |
a0001 | a0001c0018a0001c0038 | a0001c0018t0001a0001c0038t0001 | a0001c0018t0001g0055 a0001c0018t0001g0057 a0001c0038t0001g0056 |
3 | 246 | 0.0122 | -5 | c.767 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73508141 | CCCTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(15): Show |
a0001a0004a0008 | a0001c0004a0001c0011a0001c0018others(5): Show | a0001c0004t0001a0001c0011t0001a0001c0018t0001others(5): Show | a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0052 others(15): Show |
18 | 241 | 0.0747 | -5 | c.954 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73551425 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(8): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(8): Show |
11 | 149 | 0.0738 | -5 | c.100 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004366 | ATTAAT | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 |
a0002a0006 | a0002c0005a0006c0019 | a0002c0005t0001a0006c0019t0001 | a0002c0005t0001g0015 a0006c0019t0001g0109 |
3 | 402 | 0.0075 | -5 | c.116 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040647 | GAAAGA | G | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp2 HG01168.hp1 others(22): Show |
a0001a0002a0007others(1): Show | a0001c0005a0002c0002a0007c0012others(1): Show | a0001c0005t0004a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0005t0004g0001 a0002c0002t0001g0002 a0002c0002t0002g0002 others(11): Show |
25 | 467 | 0.0535 | -5 | c.449 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052732 | ATAGAT | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01167.hp2 others(51): Show |
a0001a0002a0004others(3): Show | a0001c0029a0002c0002a0004c0006others(6): Show | a0001c0029t0004a0002c0002t0002a0004c0006t0003others(7): Show | a0001c0029t0004g0161 a0002c0002t0002g0002 a0004c0006t0003g0023 others(41): Show |
54 | 468 | 0.1154 | -5 | c.*41 others(16): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3599 | chr17 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30735434 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0002g0160 others(9): Show |
13 | 29 | 0.4483 | -5 | c.-17 others(14): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 108 | chr13 | TogoVar | |||||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(51): Show |
97 | 248 | 0.3911 | -5 | c.323 others(20): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391072 | CCACGG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0168 others(53): Show |
62 | 344 | 0.1802 | -5 | c.350 others(22): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107960 | AGGAAG | A | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0003 | a0001c0001t0002g0070 a0001c0001t0002g0279 a0001c0002t0001g0285 others(2): Show |
5 | 412 | 0.0121 | -5 | c.168 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107993 | AGGAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0143 a0001c0001t0001g0187 a0001c0001t0002g0015 others(37): Show |
42 | 390 | 0.1077 | -5 | c.168 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPI_chr2_232451153_232465753 | 232465431 | TTTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0004 others(8): Show |
86 | 260 | 0.3308 | -5 | c.*62 others(16): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478794 | TATATA | T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02895.hp2 others(6): Show |
a0001a0007a0012others(3): Show | a0001c0002a0007c0034a0012c0010others(3): Show | a0001c0002t0004a0007c0034t0004a0012c0010t0001others(3): Show | a0001c0002t0004g0280 a0007c0034t0004g0247 a0012c0010t0001g0186 others(6): Show |
9 | 318 | 0.0283 | -5 | c.*30 others(16): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2452 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58483726 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(45): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0083a0001c0092others(18): Show | a0001c0002t0003a0001c0083t0010a0001c0092t0003others(23): Show | a0001c0002t0003g0148 a0001c0002t0003g0180 a0001c0002t0003g0181 others(45): Show |
48 | 251 | 0.1912 | -5 | c.629 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58512739 | TATGTG | T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(89): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0082a0002c0001others(23): Show | a0001c0002t0003a0001c0002t0005a0001c0082t0005others(40): Show | a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0180 others(89): Show |
92 | 318 | 0.2893 | -5 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58512825 | AGGTGT | A | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01993.hp2 others(1): Show |
a0001a0016a0018 | a0001c0083a0016c0050a0018c0028 | a0001c0083t0010a0016c0050t0006a0018c0028t0006others(1): Show | a0001c0083t0010g0103 a0016c0050t0006g0080 a0018c0028t0006g0050 others(1): Show |
4 | 318 | 0.0126 | -5 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58553845 | TTTTGG | T | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG01243.hp1 others(34): Show |
a0001a0003a0004others(13): Show | a0001c0002a0001c0023a0001c0077others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0023t0001others(28): Show | a0001c0002t0001g0178 a0001c0002t0001g0221 a0001c0002t0002g0002 others(34): Show |
37 | 318 | 0.1164 | -5 | c.196 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84848298 | TATATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0010 | a0001c0004t0007g0044 a0001c0004t0007g0251 a0001c0004t0007g0253 others(1): Show |
5 | 338 | 0.0148 | -5 | c.165 others(24): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84861789 | GCCCTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(298): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0004others(42): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(78): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(240): Show |
301 | 338 | 0.8905 | -5 | c.413 others(22): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21527015 | GTTCTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0234 others(67): Show |
71 | 114 | 0.6228 | -5 | c.-10 others(26): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232374643 | TAAAAG | T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02717.hp2 others(6): Show |
a0002a0016 | a0002c0002a0002c0006a0016c0026 | a0002c0002t0003a0002c0006t0003a0016c0026t0003 | a0002c0002t0003g0002 a0002c0006t0003g0002 a0016c0026t0003g0002 |
9 | 408 | 0.0221 | -5 | c.-41 others(16): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 4107 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201713743 | GTATTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(112): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(101): Show |
115 | 352 | 0.3267 | -5 | c.400 others(24): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201727303 | CCAGGA | C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG02145.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0157 a0001c0004t0001g0216 a0001c0004t0003g0029 |
3 | 352 | 0.0085 | -5 | c.291 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 16/33 | chr2 | TogoVar | |||||||
ALS2_chr2_201695267_201785933 | 201730671 | TCTCAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(21): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(2): Show | a0001c0001t0001g0217 a0001c0004t0001g0004 a0001c0004t0001g0006 others(19): Show |
24 | 352 | 0.0682 | -5 | c.258 others(24): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 13/33 | chr2 | TogoVar | |||||||
ALX1_chr12_85275220_85306784 | 85293238 | GAATAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(61): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(23): Show |
64 | 382 | 0.1675 | -5 | c.660 others(22): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062640 | TGTGTG | T | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
12 | 420 | 0.0286 | -5 | c.595 others(22): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALX4_chr11_44255440_44315139 | 44293156 | GAAGGA | G | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(5): Show | a0001c0001t0001g0240 a0001c0001t0002g0224 a0001c0002t0007g0245 others(5): Show |
8 | 384 | 0.0208 | -5 | c.466 others(24): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar |