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 | 29831031 | G | GGGA | intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0039a0001c0053a0004c0002 | a0001c0039t0013a0001c0053t0001a0004c0002t0003 | a0001c0039t0013g0079a0001c0053t0001g0070a0004c0002t0003g0057others(1): Show | 4 | 80 | 0.0500 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831034 | G | GGGA | intron_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG03453.hp1 others(1): Show |
a0001a0004 | a0001c0039a0001c0053a0004c0002 | a0001c0039t0013a0001c0053t0001a0004c0002t0003 | a0001c0039t0013g0079a0001c0053t0001g0070a0004c0002t0003g0057others(1): Show | 4 | 80 | 0.0500 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831091 | A | AAGG | intron_variant | MODIFIER | HG02895.hp1 HG03453.hp1 |
a0001a0004 | a0001c0039a0004c0002 | a0001c0039t0013a0004c0002t0003 | a0001c0039t0013g0079a0004c0002t0003g0058 | 2 | 80 | 0.0250 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29888246 | G | GTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01433.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0001c0035others(13): Show | a0001c0004t0001a0001c0009t0005a0001c0035t0001others(13): Show | a0001c0004t0001g0021a0001c0009t0005g0018a0001c0009t0005g0054others(14): Show | 17 | 80 | 0.2125 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29888250 | T | TTTG | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01106.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0023a0001c0025a0001c0027others(14): Show | a0001c0023t0010a0001c0025t0011a0001c0027t0001others(14): Show | a0001c0023t0010g0076a0001c0025t0011g0074a0001c0027t0001g0013others(17): Show | 20 | 80 | 0.2500 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29909979 | C | CAAA | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02738.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0035a0002c0047others(2): Show | a0001c0006t0007a0001c0035t0001a0002c0047t0001others(2): Show | a0001c0006t0007g0056a0001c0035t0001g0068a0002c0047t0001g0055others(2): Show | 5 | 80 | 0.0625 | 3 | c.667 others(22): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29910968 | A | AAAC | intron_variant | MODIFIER | HG01433.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0047a0003c0026others(1): Show | a0001c0006t0007a0002c0047t0001a0003c0026t0002others(1): Show | a0001c0006t0007g0056a0002c0047t0001g0055a0003c0026t0002g0015others(1): Show | 4 | 80 | 0.0500 | 3 | c.667 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29926016 | A | AGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0023a0001c0025a0002c0008others(5): Show | a0001c0023t0010a0001c0025t0011a0002c0008t0001others(5): Show | a0001c0023t0010g0076a0001c0025t0011g0074a0002c0008t0001g0049others(5): Show | 8 | 80 | 0.1000 | 3 | c.-53 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4431 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29926034 | A | AGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0023a0001c0025a0002c0008others(5): Show | a0001c0023t0010a0001c0025t0011a0002c0008t0001others(5): Show | a0001c0023t0010g0076a0001c0025t0011g0074a0002c0008t0001g0049others(5): Show | 8 | 80 | 0.1000 | 3 | c.-53 others(14): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4449 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3668566 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01167.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0002g0019a0001c0001t0002g0118a0001c0001t0002g0143others(23): Show | 27 | 274 | 0.0985 | 3 | c.-62 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73381369 | C | CAAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG03139.hp2 HG03516.hp1 others(3): Show |
a0002a0003a0019others(1): Show | a0002c0020a0002c0040a0003c0002others(2): Show | a0002c0020t0001a0002c0040t0001a0003c0002t0001others(2): Show | a0002c0020t0001g0207a0002c0020t0001g0208a0002c0040t0001g0206others(3): Show | 6 | 248 | 0.0242 | 3 | c.-45 others(14): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4466 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73385903 | T | TGGA | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(57): Show |
a0001a0015a0016others(7): Show | a0001c0001a0001c0066a0015c0015others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0066t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(57): Show | 60 | 248 | 0.2419 | 3 | c.72_ others(8): Show |
p.Glu others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 108/12844 | 75/12507 | 25/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ALMS1_chr2_73380836_73614916 | 73396550 | C | CTTT | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02647.hp2 others(4): Show |
a0002a0009a0035 | a0002c0004a0009c0013a0009c0026others(1): Show | a0002c0004t0001a0009c0013t0001a0009c0026t0001others(1): Show | a0002c0004t0001g0033a0009c0013t0001g0240a0009c0013t0001g0242others(4): Show | 7 | 248 | 0.0282 | 3 | 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 | 73399936 | G | GTTT | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG01943.hp1 others(9): Show |
a0005a0017 | a0005c0005a0005c0058a0017c0017 | a0005c0005t0001a0005c0058t0001a0017c0017t0003 | a0005c0005t0001g0107a0005c0005t0001g0108a0005c0005t0001g0111others(9): Show | 12 | 248 | 0.0484 | 3 | c.325 others(20): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01175.hp1 others(9): Show |
a0002a0004 | a0002c0020a0004c0003 | a0002c0020t0001a0004c0003t0002 | a0002c0020t0001g0207a0004c0003t0002g0064a0004c0003t0002g0066others(9): Show | 12 | 248 | 0.0484 | 3 | 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 | 73568995 | C | CTTT | intron_variant | MODIFIER | HG01256.hp1 HG03540.hp2 NA18961.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0126a0001c0001t0001g0141a0001c0001t0001g0174others(3): Show | 6 | 248 | 0.0242 | 3 | c.103 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG02647.hp2 others(7): Show |
a0002a0004a0009others(3): Show | a0002c0004a0004c0003a0009c0013others(4): Show | a0002c0004t0001a0004c0003t0002a0009c0013t0001others(4): Show | a0002c0004t0001g0239a0004c0003t0002g0066a0004c0003t0002g0067others(7): Show | 10 | 248 | 0.0403 | 3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73593112 | A | AGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
a0001a0002a0004others(47): Show | a0001c0001a0001c0066a0002c0004others(62): Show | a0001c0001t0001a0001c0001t0004a0001c0066t0001others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095others(203): Show | 206 | 248 | 0.8307 | 3 | c.115 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8092345 | T | TTTG | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02135.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027a0001c0001t0002g0005a0001c0001t0002g0082 | 3 | 462 | 0.0065 | 3 | c.-49 others(14): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4630 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004074 | T | TTAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(365): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(200): Show | 368 | 404 | 0.9109 | 3 | c.116 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006056 | G | GGGT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00733.hp1 others(30): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0004a0005c0014others(1): Show | a0001c0001t0001a0002c0004t0001a0005c0014t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0044a0001c0001t0001g0045others(19): Show | 33 | 404 | 0.0817 | 3 | c.141 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006066 | G | GGGT | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01175.hp1 others(23): Show |
a0001a0003 | a0001c0003a0003c0017 | a0001c0003t0001a0001c0003t0002a0003c0017t0001 | a0001c0003t0001g0003a0001c0003t0001g0046a0001c0003t0001g0047others(9): Show | 26 | 404 | 0.0644 | 3 | c.141 others(18): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAG | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(22): Show |
a0001a0002a0007others(2): Show | a0001c0005a0001c0047a0002c0002others(4): Show | a0001c0005t0002a0001c0005t0004a0001c0047t0004others(5): Show | a0001c0005t0002g0020a0001c0005t0004g0015a0001c0005t0004g0092others(10): Show | 25 | 470 | 0.0532 | 3 | c.449 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8051469 | C | CAAA | downstream_gene_variant | MODIFIER | HG02129.hp1 HG04184.hp1 NA18988.hp1 others(13): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002a0003c0004t0005 | a0003c0004t0001g0076a0003c0004t0001g0164a0003c0004t0001g0192others(11): Show | 16 | 470 | 0.0340 | 3 | c.*29 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 2336 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052714 | A | AGAT | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01884.hp2 HG03927.hp1 others(6): Show |
a0001a0019 | a0001c0001a0001c0010a0019c0037 | a0001c0001t0001a0001c0010t0004a0001c0010t0013others(1): Show | a0001c0001t0001g0055a0001c0010t0004g0036a0001c0010t0004g0054others(5): Show | 9 | 470 | 0.0192 | 3 | c.*41 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3581 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGA | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG04184.hp1 others(3): Show |
a0001a0003 | a0001c0008a0003c0004 | a0001c0008t0001a0001c0008t0010a0003c0004t0001others(1): Show | a0001c0008t0001g0238a0001c0008t0001g0239a0001c0008t0001g0243others(3): Show | 6 | 470 | 0.0128 | 3 | c.*41 others(14): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4634959 | C | CAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(347): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(134): Show | 350 | 472 | 0.7415 | 3 | c.116 others(20): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 8/13 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4641683 | G | GAGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(433): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(190): Show | 436 | 472 | 0.9237 | 3 | c.-35 others(10): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 6 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4641683 | G | GTGA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0076a0001c0001t0001g0119others(13): Show | 33 | 472 | 0.0699 | 3 | c.-33 others(10): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 6 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4642686 | C | CTTT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0056others(6): Show | 12 | 472 | 0.0254 | 3 | c.-10 others(14): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 1009 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30736351 | A | AAAC | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0057others(1): Show | 4 | 422 | 0.0095 | 3 | c.70+ others(16): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | C | CTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00735.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0022others(38): Show | 52 | 422 | 0.1232 | 3 | c.71- others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30741831 | G | GTTT | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01123.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0034others(22): Show | 38 | 422 | 0.0901 | 3 | c.71- others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45384833 | C | CTAT | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG03130.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0002a0002c0005t0003 | a0001c0001t0001g0012a0001c0001t0001g0046a0001c0001t0001g0106others(3): Show | 7 | 345 | 0.0203 | 3 | c.349 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45402086 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01071.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0022a0001c0001t0001g0115a0001c0001t0001g0133others(35): Show | 40 | 345 | 0.1159 | 3 | c.431 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45405739 | C | CTTT | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0004t0001g0037others(3): Show | 6 | 345 | 0.0174 | 3 | c.432 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8098234 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(132): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0137a0001c0001t0001g0199a0001c0001t0001g0357others(130): Show | 135 | 422 | 0.3199 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8099022 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG01516.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0002g0360a0001c0002t0001g0040a0001c0002t0001g0183others(7): Show | 10 | 422 | 0.0237 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8099370 | T | TAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(368): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0013a0001c0001t0001g0049a0001c0001t0001g0110others(363): Show | 371 | 422 | 0.8792 | 3 | c.195 others(22): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107961 | G | GAAA | intron_variant | MODIFIER | HG02630.hp2 HG03834.hp2 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0110a0001c0001t0001g0122a0001c0001t0006g0394others(2): Show | 5 | 422 | 0.0119 | 3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107994 | G | GAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0130a0001c0001t0002g0047a0001c0001t0002g0131others(5): Show | 8 | 422 | 0.0190 | 3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232402363 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0014a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(23): Show | 202 | 434 | 0.4654 | 3 | c.-45 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 4480 | chr2 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112320897 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0198a0001c0001t0001g0278a0001c0001t0001g0283others(22): Show | 25 | 306 | 0.0817 | 3 | c.-10 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112349551 | G | GCCC | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01255.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0090others(19): Show | 22 | 306 | 0.0719 | 3 | c.-10 others(24): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112349958 | G | GTCC | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0002a0002c0015t0002 | a0001c0001t0001g0090a0001c0001t0001g0137a0002c0002t0002g0240others(2): Show | 5 | 306 | 0.0163 | 3 | c.-10 others(24): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112353885 | A | AAAT | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 HG02071.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0001others(4): Show | a0001c0001t0003g0172a0001c0001t0003g0173a0001c0001t0003g0209others(10): Show | 13 | 306 | 0.0425 | 3 | c.-10 others(24): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112382289 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 HG02165.hp2 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0099a0001c0001t0001g0105others(20): Show | 23 | 306 | 0.0752 | 3 | c.122 others(16): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112424198 | T | TAAA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0008a0001c0016t0015a0002c0002t0002others(1): Show | a0001c0001t0008g0109a0001c0016t0015g0130a0002c0002t0002g0048others(3): Show | 6 | 306 | 0.0196 | 3 | c.535 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112426962 | G | GTCA | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02630.hp1 others(9): Show |
a0001a0005a0014 | a0001c0001a0005c0006a0014c0027 | a0001c0001t0001a0001c0001t0007a0005c0006t0006others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0132a0001c0001t0001g0158others(9): Show | 12 | 306 | 0.0392 | 3 | c.699 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58483726 | A | ATTT | intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 HG02145.hp1 others(20): Show |
a0003a0005a0006others(13): Show | a0003c0003a0005c0005a0006c0039others(15): Show | a0003c0003t0003a0005c0005t0015a0006c0039t0008others(16): Show | a0003c0003t0003g0267a0005c0005t0015g0020a0006c0039t0008g0120others(20): Show | 23 | 320 | 0.0719 | 3 | c.629 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar |