regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 29228809 | A | AGGGCG | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01884.hp1 others(9): Show |
a0001a0002a0004 | a0001c0004a0001c0016a0001c0020others(7): Show | a0001c0004t0001a0001c0016t0007a0001c0020t0005others(7): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0016t0007g0004others(9): Show | 12 | 80 | 0.1500 | 5 | c.281 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 16/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29300554 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG02109.hp2 others(3): Show |
a0002a0003a0005others(1): Show | a0002c0001a0002c0036a0003c0005others(3): Show | a0002c0001t0001a0002c0036t0015a0003c0005t0002others(3): Show | a0002c0001t0001g0062a0002c0036t0015g0080a0003c0005t0002g0045others(3): Show | 6 | 80 | 0.0750 | 5 | c.164 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 8/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29396836 | G | GTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0001c0022a0002c0008others(2): Show | a0001c0004t0008a0001c0022t0001a0002c0008t0001others(2): Show | a0001c0004t0008g0003a0001c0022t0001g0007a0002c0008t0001g0044others(2): Show | 5 | 80 | 0.0625 | 5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29462462 | G | GTCAAC | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 |
a0001a0002 | a0001c0051a0002c0028 | a0001c0051t0001a0002c0028t0001 | a0001c0051t0001g0019a0002c0028t0001g0014 | 2 | 80 | 0.0250 | 5 | c.115 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29571602 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0023a0002c0001a0002c0030others(1): Show | a0001c0023t0010a0002c0001t0001a0002c0030t0001others(1): Show | a0001c0023t0010g0076a0002c0001t0001g0062a0002c0030t0001g0060others(1): Show | 4 | 80 | 0.0500 | 5 | c.953 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29581387 | C | CAAATA | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 NA19240.hp2 |
a0002a0005 | a0002c0001a0002c0014a0005c0046 | a0002c0001t0001a0002c0014t0001a0005c0046t0004 | a0002c0001t0001g0061a0002c0014t0001g0009a0005c0046t0004g0053 | 3 | 80 | 0.0375 | 5 | c.953 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29608040 | C | CTTTCT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(63): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(47): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(48): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0006t0001g0026others(63): Show | 66 | 80 | 0.8250 | 5 | c.953 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29636337 | G | GAAAGA | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 |
a0002a0006 | a0002c0028a0006c0029 | a0002c0028t0001a0006c0029t0001 | a0002c0028t0001g0014a0006c0029t0001g0016 | 2 | 80 | 0.0250 | 5 | c.952 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29677235 | T | TCTCCC | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG02572.hp2 |
a0001a0005 | a0001c0053a0001c0058a0005c0013 | a0001c0053t0001a0001c0058t0001a0005c0013t0004 | a0001c0053t0001g0070a0001c0058t0001g0024a0005c0013t0004g0050 | 3 | 80 | 0.0375 | 5 | c.952 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802359 | C | CAGGGG | intron_variant | MODIFIER | HG00323.hp2 HG02109.hp2 HG02258.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0036a0002c0055others(3): Show | a0001c0004t0008a0002c0036t0015a0002c0055t0001others(3): Show | a0001c0004t0008g0003a0002c0036t0015g0080a0002c0055t0001g0031others(3): Show | 6 | 80 | 0.0750 | 5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802364 | G | GAGGGC | intron_variant | MODIFIER | HG02280.hp1 HG03139.hp2 NA18906.hp1 |
a0003a0004 | a0003c0026a0003c0034a0004c0042 | a0003c0026t0002a0003c0034t0002a0004c0042t0003 | a0003c0026t0002g0015a0003c0034t0002g0071a0004c0042t0003g0073 | 3 | 80 | 0.0375 | 5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802507 | A | AGGAGG | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0001a0003c0010t0006g0002 | 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 | 29802517 | G | GGGAGA | intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001a0003a0004 | a0001c0023a0003c0026a0003c0034others(1): Show | a0001c0023t0010a0003c0026t0002a0003c0034t0002others(1): Show | a0001c0023t0010g0076a0003c0026t0002g0015a0003c0034t0002g0071others(1): Show | 4 | 80 | 0.0500 | 5 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831134 | G | GCAGAA | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(3): Show |
a0002a0005 | a0002c0007a0002c0008a0002c0011others(3): Show | a0002c0007t0001a0002c0008t0001a0002c0011t0001others(3): Show | a0002c0007t0001g0064a0002c0008t0001g0049a0002c0011t0001g0042others(3): Show | 6 | 80 | 0.0750 | 5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831152 | G | GCAGAA | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 |
a0001a0002 | a0001c0006a0002c0028 | a0001c0006t0001a0002c0028t0001 | a0001c0006t0001g0036a0002c0028t0001g0014 | 2 | 80 | 0.0250 | 5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831162 | G | GAAGAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02897.hp2 others(1): Show |
a0002a0005 | a0002c0011a0002c0052a0002c0056others(1): Show | a0002c0011t0001a0002c0052t0001a0002c0056t0001others(1): Show | a0002c0011t0001g0042a0002c0052t0001g0017a0002c0056t0001g0040others(1): Show | 4 | 80 | 0.0500 | 5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29854207 | C | CTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(36): Show | a0001c0004t0001a0001c0006t0007a0001c0009t0005others(36): Show | a0001c0004t0001g0021a0001c0006t0007g0056a0001c0009t0005g0018others(48): Show | 51 | 80 | 0.6375 | 5 | c.667 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | C | CTTTTT | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0002a0002c0005t0002a0003c0003t0002 | a0002c0002t0002g0240a0002c0002t0002g0241a0002c0005t0002g0041others(3): Show | 6 | 274 | 0.0219 | 5 | c.-62 others(22): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01256.hp2 others(9): Show |
a0004a0020a0025others(2): Show | a0004c0003a0004c0053a0020c0019others(3): Show | a0004c0003t0002a0004c0053t0002a0020c0019t0002others(3): Show | a0004c0003t0002g0066a0004c0003t0002g0067a0004c0003t0002g0083others(9): Show | 12 | 248 | 0.0484 | 5 | c.325 others(22): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(65): Show |
a0001a0006a0007others(12): Show | a0001c0001a0001c0066a0006c0010others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0066t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0095a0001c0001t0001g0124others(65): Show | 68 | 248 | 0.2742 | 5 | c.767 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01169.hp1 others(34): Show |
a0002a0004a0008others(10): Show | a0002c0004a0002c0011a0002c0023others(16): Show | a0002c0004t0001a0002c0011t0001a0002c0023t0001others(16): Show | a0002c0004t0001g0033a0002c0004t0001g0247a0002c0011t0001g0042others(34): Show | 37 | 248 | 0.1492 | 5 | c.767 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73508141 | C | CCCTTT | intron_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG02145.hp2 |
a0001a0007a0013 | a0001c0001a0007c0006a0013c0014 | a0001c0001t0001a0007c0006t0001a0013c0014t0001 | a0001c0001t0001g0130a0007c0006t0001g0152a0013c0014t0001g0164 | 3 | 248 | 0.0121 | 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 | 73579063 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01109.hp1 others(18): Show |
a0002a0004a0005others(5): Show | a0002c0004a0004c0003a0005c0005others(6): Show | a0002c0004t0001a0004c0003t0002a0005c0005t0001others(6): Show | a0002c0004t0001g0036a0002c0004t0001g0052a0004c0003t0002g0073others(18): Show | 21 | 248 | 0.0847 | 5 | c.115 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8092105 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(171): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(104): Show | 174 | 462 | 0.3766 | 5 | c.-46 others(16): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4390 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGG | intron_variant | MODIFIER | HG02080.hp2 HG02129.hp1 HG02818.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020a0002c0002t0001g0065a0002c0002t0001g0092others(1): Show | 6 | 404 | 0.0149 | 5 | c.141 others(20): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30741831 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(48): Show | 70 | 422 | 0.1659 | 5 | c.71- others(20): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45371161 | T | TCTACA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0035a0001c0003t0001g0006a0001c0003t0001g0032others(5): Show | 10 | 345 | 0.0290 | 5 | c.-31 others(16): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3054 | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391060 | C | CCACGG | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007a0001c0004t0001g0064a0001c0004t0001g0065others(1): Show | 5 | 345 | 0.0145 | 5 | c.350 others(22): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8092105 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(152): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0049a0001c0001t0001g0117a0001c0001t0001g0121others(151): Show | 155 | 422 | 0.3673 | 5 | c.*45 others(16): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3794 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094480 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02040.hp2 NA18945.hp2 NA18965.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069a0001c0002t0001g0165a0001c0002t0001g0304others(2): Show | 5 | 422 | 0.0119 | 5 | c.*21 others(16): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1419 | chr17 | TogoVar | ||||||
ALPI_chr2_232451153_232465753 | 232465431 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(8): Show | 57 | 446 | 0.1278 | 5 | c.*62 others(16): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112349551 | G | GCCCCC | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(10): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0003c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0192a0001c0001t0001g0195others(10): Show | 13 | 306 | 0.0425 | 5 | c.-10 others(26): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112439917 | A | AATGTG | intron_variant | MODIFIER | NA18954.hp1 NA18957.hp2 NA18960.hp1 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0064a0005c0006t0006g0098a0005c0006t0006g0162others(3): Show | 6 | 306 | 0.0196 | 5 | c.353 others(20): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58531935 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG04115.hp1 others(9): Show |
a0002a0004 | a0002c0002a0002c0080a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(3): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(9): Show | 12 | 320 | 0.0375 | 5 | c.535 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02572.hp1 others(5): Show |
a0001a0002a0024others(2): Show | a0001c0006a0002c0014a0024c0025others(2): Show | a0001c0006t0009a0002c0014t0020a0024c0025t0010others(4): Show | a0001c0006t0009g0045a0002c0014t0020g0089a0024c0025t0010g0110others(5): Show | 8 | 320 | 0.0250 | 5 | c.196 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58573613 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG02818.hp1 others(7): Show |
a0003a0004a0007others(2): Show | a0003c0003a0004c0004a0007c0059others(2): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(5): Show | a0003c0003t0001g0268a0003c0003t0002g0041a0003c0003t0002g0060others(7): Show | 10 | 320 | 0.0313 | 5 | c.196 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58600027 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(26): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0016a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0155a0001c0001t0001g0196a0001c0001t0001g0197others(26): Show | 29 | 320 | 0.0906 | 5 | c.227 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84812839 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG03130.hp1 others(5): Show |
a0001a0002a0008 | a0001c0001a0001c0035a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0121a0001c0001t0005g0172a0001c0001t0009g0077others(5): Show | 8 | 340 | 0.0235 | 5 | c.-46 others(16): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4516 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84838638 | T | TTATTA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(79): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0030others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0025others(67): Show | 82 | 340 | 0.2412 | 5 | c.305 others(20): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21527015 | G | GTTCTT | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0002a0001c0003t0005 | a0001c0001t0011g0015a0001c0001t0011g0016a0001c0003t0002g0071others(1): Show | 4 | 370 | 0.0108 | 5 | c.-10 others(26): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21553075 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(347): Show | 353 | 370 | 0.9541 | 5 | c.-10 others(22): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALS2_chr2_201695267_201785933 | 201713122 | C | CCTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(101): Show | 114 | 354 | 0.3220 | 5 | c.400 others(24): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 25/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201765645 | A | ATACTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01069.hp2 others(14): Show |
a0001a0011a0012 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0222others(14): Show | 17 | 354 | 0.0480 | 5 | c.175 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 3/33 | chr2 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01346.hp1 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0056a0001c0001t0001g0115others(13): Show | 22 | 422 | 0.0521 | 5 | c.595 others(22): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110066572 | T | TCCCCC | intron_variant | MODIFIER | HG00609.hp1 HG01978.hp2 HG02071.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0032others(7): Show | 20 | 422 | 0.0474 | 5 | c.278 others(22): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114073493 | G | GTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0099a0001c0001t0001g0100others(1): Show | 9 | 454 | 0.0198 | 5 | c.455 others(20): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110873731 | T | TACTTA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0024others(21): Show | 73 | 394 | 0.1853 | 5 | c.-13 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1053 | chr6 | TogoVar | ||||||
AMD1_chr6_110869785_110900713 | 110895450 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005a0001c0001t0006g0033a0001c0001t0006g0075others(1): Show | 4 | 394 | 0.0102 | 5 | c.*18 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 9/9 | 1863 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
AMDHD1_chr12_95938331_95973720 | 95954573 | T | TAAATA | intron_variant | MODIFIER | HG02523.hp1 HG02717.hp2 HG02818.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0070a0002c0003t0001g0071a0002c0003t0001g0074others(4): Show | 7 | 404 | 0.0173 | 5 | c.245 others(20): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95956092 | A | AGTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(323): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(239): Show | 326 | 404 | 0.8069 | 5 | c.310 others(20): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |