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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALMS1_chr2_73380836_73614916 | 73474371 | C | CTGTG | intron_variant | MODIFIER | HG01192.hp1 NA18906.hp1 NA18947.hp2 others(3): Show |
a0003a0010 | a0003c0002a0010c0009 | a0003c0002t0001a0010c0009t0001 | a0003c0002t0001g0015a0003c0002t0001g0059a0003c0002t0001g0060others(3): Show | 6 | 248 | 0.0242 | 4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73474411 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(70): Show |
a0001a0006a0007others(13): Show | a0001c0001a0006c0007a0006c0010others(14): Show | a0001c0001t0001a0001c0001t0004a0006c0007t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(70): Show | 73 | 248 | 0.2944 | 4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73475940 | A | ATATG | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01433.hp2 others(22): Show |
a0005a0008a0017others(4): Show | a0005c0005a0005c0058a0008c0008others(5): Show | a0005c0005t0001a0005c0058t0001a0008c0008t0001others(5): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(22): Show | 25 | 248 | 0.1008 | 4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73478656 | G | GTTTA | intron_variant | MODIFIER | HG01261.hp2 NA19058.hp1 NA20129.hp1 |
a0030a0037a0043 | a0030c0038a0037c0044a0043c0062 | a0030c0038t0001a0037c0044t0002a0043c0062t0001 | a0030c0038t0001g0055a0037c0044t0002g0079a0043c0062t0001g0120 | 3 | 248 | 0.0121 | 4 | c.767 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TACAC | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG02486.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0002c0047others(7): Show | a0001c0001t0001a0002c0004t0001a0002c0047t0001others(7): Show | a0001c0001t0001g0151a0002c0004t0001g0005a0002c0004t0001g0031others(12): Show | 15 | 248 | 0.0605 | 4 | c.954 others(23): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73562141 | T | TTGTA | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02970.hp1 others(5): Show |
a0002a0004a0006others(3): Show | a0002c0004a0002c0023a0004c0003others(4): Show | a0002c0004t0001a0002c0023t0001a0004c0003t0002others(4): Show | a0002c0004t0001g0239a0002c0023t0001g0195a0002c0023t0001g0196others(5): Show | 8 | 248 | 0.0323 | 4 | c.103 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73568995 | C | CTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
a0008a0028 | a0008c0008a0028c0033 | a0008c0008t0001a0028c0033t0001 | a0008c0008t0001g0231a0008c0008t0001g0232a0008c0008t0001g0233others(2): Show | 5 | 248 | 0.0202 | 4 | c.103 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
a0002a0004a0005others(12): Show | a0002c0004a0002c0011a0002c0041others(17): Show | a0002c0004t0001a0002c0011t0001a0002c0041t0001others(17): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0035others(47): Show | 50 | 248 | 0.2016 | 4 | c.115 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73589226 | A | ATGTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show |
a0002a0003a0004others(37): Show | a0002c0004a0002c0011a0002c0020others(52): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(52): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(152): Show | 155 | 248 | 0.6250 | 4 | c.115 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8078115 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(69): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0031others(42): Show | 72 | 462 | 0.1558 | 4 | c.107 others(21): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8092105 | A | AAAAG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0052a0001c0001t0001g0166others(8): Show | 13 | 462 | 0.0281 | 4 | c.-46 others(15): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4390 | chr17 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8092328 | T | TTTTG | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01952.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0036others(16): Show | 25 | 462 | 0.0541 | 4 | c.-48 others(15): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4613 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006055 | G | GGGGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01081.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0141others(6): Show | 12 | 404 | 0.0297 | 4 | c.141 others(19): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8038704 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0008others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(244): Show | 357 | 470 | 0.7596 | 4 | c.-45 others(13): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 354 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAGAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01069.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0057a0001c0001t0001g0058others(22): Show | 40 | 470 | 0.0851 | 4 | c.449 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044105 | G | GAGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0021a0001c0023others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0021t0001others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0024others(41): Show | 74 | 470 | 0.1575 | 4 | c.677 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044151 | G | GGAAA | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01884.hp1 others(14): Show |
a0004a0005 | a0004c0006a0004c0007a0005c0009others(1): Show | a0004c0006t0003a0004c0007t0003a0005c0009t0003others(1): Show | a0004c0006t0003g0143a0004c0007t0003g0065a0004c0007t0003g0071others(11): Show | 17 | 470 | 0.0362 | 4 | c.677 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8049283 | T | TAAAA | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01884.hp2 HG03927.hp1 others(4): Show |
a0001a0019 | a0001c0010a0019c0037 | a0001c0010t0004a0001c0010t0013a0019c0037t0004 | a0001c0010t0004g0036a0001c0010t0004g0054a0001c0010t0004g0126others(3): Show | 7 | 470 | 0.0149 | 4 | c.*71 others(13): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 150 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052705 | C | CAGAT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01257.hp1 others(13): Show |
a0001a0002a0010 | a0001c0001a0001c0005a0001c0021others(4): Show | a0001c0001t0001a0001c0005t0004a0001c0005t0018others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0013others(12): Show | 16 | 470 | 0.0340 | 4 | c.*41 others(15): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3572 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052842 | A | AAGAT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02129.hp1 others(53): Show |
a0001a0003a0004others(3): Show | a0001c0008a0001c0014a0003c0004others(5): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0010others(10): Show | a0001c0008t0001g0145a0001c0008t0001g0238a0001c0008t0001g0239others(48): Show | 56 | 470 | 0.1192 | 4 | c.*42 others(15): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3709 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8053098 | G | GTAGA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01109.hp2 others(106): Show |
a0001a0002a0003others(6): Show | a0001c0008a0001c0014a0001c0029others(13): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0010others(20): Show | a0001c0008t0001g0145a0001c0008t0001g0238a0001c0008t0001g0239others(92): Show | 109 | 470 | 0.2319 | 4 | c.*45 others(15): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3965 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4646356 | G | GTGTT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0056others(2): Show | 8 | 472 | 0.0170 | 4 | c.-47 others(15): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 4679 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | C | CTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0183a0001c0001t0001g0289others(9): Show | 13 | 422 | 0.0308 | 4 | c.71- others(19): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30741831 | G | GTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01361.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0035others(11): Show | 17 | 422 | 0.0403 | 4 | c.71- others(19): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30758825 | C | CACCT | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01243.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180a0001c0001t0002g0013a0001c0001t0002g0017others(19): Show | 29 | 422 | 0.0687 | 4 | c.323 others(21): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30762596 | A | AAAAG | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01109.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0034a0001c0001t0001g0044others(21): Show | 35 | 422 | 0.0829 | 4 | c.324 others(21): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45409509 | G | GTCTC | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG02080.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0165a0001c0001t0001g0236a0001c0002t0002g0292others(11): Show | 14 | 345 | 0.0406 | 4 | c.432 others(21): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45431548 | G | GTTAT | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0088others(18): Show | 22 | 345 | 0.0638 | 4 | c.981 others(21): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45434906 | T | TTTTC | intron_variant | MODIFIER | HG01261.hp2 HG01928.hp2 HG01993.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0007a0001c0003t0004others(1): Show | a0001c0001t0004g0203a0001c0002t0007g0307a0001c0002t0007g0308others(9): Show | 12 | 345 | 0.0348 | 4 | c.982 others(21): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8092105 | A | AAAAG | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0122a0001c0001t0002g0088a0001c0001t0002g0103others(12): Show | 15 | 422 | 0.0356 | 4 | c.*45 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3794 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8092328 | T | TTTTG | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01952.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0114a0001c0001t0001g0124a0001c0001t0001g0173others(18): Show | 22 | 422 | 0.0521 | 4 | c.*42 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3571 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8093870 | T | TAATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0173a0001c0001t0002g0007a0001c0001t0002g0175others(31): Show | 35 | 422 | 0.0829 | 4 | c.*27 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094241 | G | GACAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0049a0001c0001t0001g0110others(142): Show | 148 | 422 | 0.3507 | 4 | c.*23 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1658 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094260 | A | ACACG | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02572.hp1 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0010a0001c0002t0001 | a0001c0001t0003g0375a0001c0001t0010g0266a0001c0002t0001g0139 | 3 | 422 | 0.0071 | 4 | c.*23 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1639 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094260 | A | ACGCG | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02074.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0006t0015others(3): Show | a0001c0001t0002g0140a0001c0002t0001g0056a0001c0002t0001g0071others(6): Show | 9 | 422 | 0.0213 | 4 | c.*23 others(15): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1639 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8098234 | G | GTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00673.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0002g0360a0001c0002t0001g0015a0001c0002t0001g0021others(39): Show | 42 | 422 | 0.0995 | 4 | c.195 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8105356 | G | GGCCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0357a0001c0001t0001g0358others(111): Show | 117 | 422 | 0.2773 | 4 | c.168 others(23): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | G | GGAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0017 | a0001c0001t0002g0067a0001c0001t0002g0083a0001c0001t0002g0164others(27): Show | 30 | 422 | 0.0711 | 4 | c.168 others(21): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8113660 | C | CAACA | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp1 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0175a0001c0001t0004g0365a0001c0001t0004g0408others(24): Show | 28 | 422 | 0.0664 | 4 | c.680 others(19): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 6/15 | chr17 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232402363 | C | CAAAA | upstream_gene_variant | MODIFIER | HG02738.hp1 HG03516.hp1 NA18978.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0005a0005c0006 | a0001c0001t0001a0001c0001t0006a0005c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0017others(3): Show | 12 | 434 | 0.0277 | 4 | c.-45 others(15): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 4480 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232406987 | T | TACAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(54): Show |
a0004a0005a0012others(2): Show | a0004c0004a0005c0005a0012c0020others(2): Show | a0004c0004t0002a0004c0004t0008a0005c0005t0001others(3): Show | a0004c0004t0002g0004a0004c0004t0002g0007a0004c0004t0002g0013others(6): Show | 57 | 434 | 0.1313 | 4 | c.67+ others(15): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112302736 | G | GCAAA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(155): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0007others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0023others(154): Show | 158 | 306 | 0.5163 | 4 | c.-15 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112335999 | A | AAACC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(47): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0082a0001c0001t0001g0105a0001c0001t0001g0184others(46): Show | 50 | 306 | 0.1634 | 4 | c.-10 others(25): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112349551 | G | GCCCC | intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01257.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0121a0001c0001t0001g0132a0001c0001t0001g0158others(40): Show | 43 | 306 | 0.1405 | 4 | c.-10 others(25): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112353868 | C | CAAAT | intron_variant | MODIFIER | HG01261.hp2 HG04115.hp2 NA19079.hp1 others(2): Show |
a0001a0002a0014 | a0001c0001a0001c0007a0002c0009others(1): Show | a0001c0001t0001a0001c0007t0003a0002c0009t0002others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0153a0001c0007t0003g0035others(2): Show | 5 | 306 | 0.0163 | 4 | c.-10 others(25): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112393593 | A | AAGAG | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG02698.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0009 | a0001c0001t0001g0184a0001c0001t0001g0295a0002c0002t0002g0021others(2): Show | 5 | 306 | 0.0163 | 4 | c.276 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(96): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0040others(95): Show | 99 | 306 | 0.3235 | 4 | c.353 others(19): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58478606 | G | GTATA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02735.hp2 |
a0001a0047a0053 | a0001c0006a0047c0064a0053c0074 | a0001c0006t0009a0047c0064t0001a0053c0074t0001 | a0001c0006t0009g0043a0047c0064t0001g0250a0053c0074t0001g0162 | 3 | 320 | 0.0094 | 4 | c.*32 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2640 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58479151 | A | AATAT | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0002a0006a0022others(2): Show | a0002c0002a0006c0034a0022c0022others(2): Show | a0002c0002t0004a0006c0034t0004a0022c0022t0004others(2): Show | a0002c0002t0004g0280a0006c0034t0004g0247a0022c0022t0004g0145others(3): Show | 6 | 320 | 0.0188 | 4 | c.*26 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2095 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483529 | C | CTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(151): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0006a0001c0016others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(77): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(151): Show | 154 | 320 | 0.4813 | 4 | c.629 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar |