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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALKBH5_chr17_18178828_18214954 | 18201775 | A | ATAGATAG others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0039a0001c0001t0002g0171others(4): Show | 12 | 418 | 0.0287 | 16 | c.852 others(33): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29571602 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0026 | a0003c0026t0002 | a0003c0026t0002g0015 | 1 | 80 | 0.0125 | 16 | c.953 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29705240 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0055 | a0002c0055t0001 | a0002c0055t0001g0031 | 1 | 80 | 0.0125 | 16 | c.788 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29706975 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0047 | a0002c0047t0001 | a0002c0047t0001g0055 | 1 | 80 | 0.0125 | 16 | c.787 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29750697 | A | AAGGCAGG others(9): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0001a0004 | a0001c0023a0004c0002 | a0001c0023t0010a0004c0002t0003 | a0001c0023t0010g0076a0004c0002t0003g0041 | 2 | 80 | 0.0250 | 16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29768713 | C | CTATGTGT others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02897.hp2 |
a0002a0005 | a0002c0056a0005c0013 | a0002c0056t0001a0005c0013t0004 | a0002c0056t0001g0040a0005c0013t0004g0050 | 2 | 80 | 0.0250 | 16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29768743 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0007 | a0007c0044 | a0007c0044t0012 | a0007c0044t0012g0077 | 1 | 80 | 0.0125 | 16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29768743 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0054 | 1 | 80 | 0.0125 | 16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29789015 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02004.hp2 HG02145.hp1 others(3): Show |
a0002a0003a0006 | a0002c0001a0002c0030a0003c0003others(3): Show | a0002c0001t0001a0002c0030t0001a0003c0003t0002others(3): Show | a0002c0001t0001g0061a0002c0030t0001g0060a0003c0003t0002g0059others(3): Show | 6 | 80 | 0.0750 | 16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690289 | T | TCCCTCCC others(9): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 16 | c.512 others(33): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3697621 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02630.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0147a0001c0001t0001g0261others(2): Show | 5 | 274 | 0.0183 | 16 | c.850 others(31): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3697621 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0027 | 1 | 274 | 0.0037 | 16 | c.850 others(31): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3697621 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02809.hp1 NA19043.hp2 |
a0002a0005 | a0002c0002a0002c0005a0005c0007 | a0002c0002t0002a0002c0005t0002a0005c0007t0004 | a0002c0002t0002g0149a0002c0005t0002g0041a0005c0007t0004g0253 | 3 | 274 | 0.0110 | 16 | c.850 others(31): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3704396 | G | GGGGAGGG others(9): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 274 | 0.0037 | 16 | c.*18 others(27): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1726 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0028 | a0028c0033 | a0028c0033t0001 | a0028c0033t0001g0238 | 1 | 248 | 0.0040 | 16 | c.325 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0038 | a0038c0051 | a0038c0051t0001 | a0038c0051t0001g0210 | 1 | 248 | 0.0040 | 16 | c.954 others(35): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73517246 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG02970.hp2 |
a0005a0012 | a0005c0005a0012c0012 | a0005c0005t0001a0012c0012t0001 | a0005c0005t0001g0107a0005c0005t0001g0114a0012c0012t0001g0204 | 3 | 248 | 0.0121 | 16 | c.954 others(35): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0021 | a0021c0029 | a0021c0029t0001 | a0021c0029t0001g0121 | 1 | 248 | 0.0040 | 16 | c.115 others(37): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8087241 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 462 | 0.0022 | 16 | c.147 others(29): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8092328 | T | TTTTGTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 462 | 0.0022 | 16 | c.-48 others(27): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 4613 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01261.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071a0002c0002t0001g0097 | 2 | 404 | 0.0050 | 16 | c.141 others(31): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01243.hp1 others(45): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0066others(29): Show | 48 | 470 | 0.1021 | 16 | c.449 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001a0001c0008t0002 | a0001c0008t0001g0238a0001c0008t0002g0041 | 4 | 470 | 0.0085 | 16 | c.449 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0244 | 1 | 470 | 0.0021 | 16 | c.449 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040646 | A | AGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG04228.hp1 others(1): Show |
a0001a0019 | a0001c0001a0001c0010a0019c0037 | a0001c0001t0001a0001c0010t0004a0019c0037t0004 | a0001c0001t0001g0234a0001c0010t0004g0036a0019c0037t0004g0036 | 4 | 470 | 0.0085 | 16 | c.449 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044105 | G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0001c0029others(2): Show | a0001c0001t0001a0001c0014t0001a0001c0029t0004others(2): Show | a0001c0001t0001g0060a0001c0001t0001g0134a0001c0001t0001g0161others(8): Show | 12 | 470 | 0.0255 | 16 | c.677 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8044151 | G | GGAAGGAA others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01168.hp1 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0008a0001c0010a0002c0002others(5): Show | a0001c0008t0010a0001c0010t0001a0002c0002t0002others(6): Show | a0001c0008t0010g0240a0001c0010t0001g0253a0002c0002t0002g0021others(16): Show | 22 | 470 | 0.0468 | 16 | c.677 others(31): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8049283 | T | TAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG03490.hp1 |
a0002a0009 | a0002c0002a0009c0025 | a0002c0002t0002a0002c0002t0006a0009c0025t0004 | a0002c0002t0002g0111a0002c0002t0006g0031a0009c0025t0004g0062 | 3 | 470 | 0.0064 | 16 | c.*71 others(25): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 150 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02630.hp2 others(5): Show |
a0001a0006a0017 | a0001c0010a0006c0011a0006c0045others(1): Show | a0001c0010t0001a0001c0010t0004a0006c0011t0001others(3): Show | a0001c0010t0001g0253a0001c0010t0004g0126a0006c0011t0001g0074others(3): Show | 8 | 470 | 0.0170 | 16 | c.*17 others(27): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8092328 | T | TTTTGTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 422 | 0.0024 | 16 | c.*42 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 3571 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107965 | G | GAAAGAAA others(9): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0354 | 1 | 422 | 0.0024 | 16 | c.168 others(33): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | G | GGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084a0001c0002t0001g0167 | 2 | 422 | 0.0047 | 16 | c.168 others(33): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 306 | 0.0033 | 16 | c.353 others(31): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58478633 | T | TATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03579.hp1 |
a0006a0009 | a0006c0024a0009c0008 | a0006c0024t0013a0009c0008t0001 | a0006c0024t0013g0090a0009c0008t0001g0258 | 2 | 320 | 0.0063 | 16 | c.*31 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2613 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58483529 | C | CTTTATTT others(9): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 320 | 0.0031 | 16 | c.629 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521625 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02015.hp1 HG03704.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0004c0004t0004 | a0002c0002t0001g0166a0002c0002t0001g0185a0002c0002t0001g0232others(2): Show | 5 | 320 | 0.0156 | 16 | c.566 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTCTTTTT others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02886.hp1 |
a0012a0024a0054 | a0012c0092a0024c0025a0054c0072 | a0012c0092t0003a0024c0025t0010a0054c0072t0003 | a0012c0092t0003g0320a0024c0025t0010g0110a0054c0072t0003g0161 | 3 | 320 | 0.0094 | 16 | c.566 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58556169 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(20): Show |
a0002a0006a0008others(9): Show | a0002c0014a0006c0024a0008c0035others(12): Show | a0002c0014t0001a0006c0024t0005a0006c0024t0013others(18): Show | a0002c0014t0001g0249a0006c0024t0005g0279a0006c0024t0013g0090others(20): Show | 23 | 320 | 0.0719 | 16 | c.196 others(37): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58556189 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0054 | a0054c0072 | a0054c0072t0003 | a0054c0072t0003g0161 | 1 | 320 | 0.0031 | 16 | c.196 others(37): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02040.hp2 HG02300.hp2 others(6): Show |
a0003a0004a0010others(3): Show | a0003c0003a0003c0012a0004c0068others(4): Show | a0003c0003t0016a0003c0012t0001a0003c0012t0002others(6): Show | a0003c0003t0016g0261a0003c0012t0001g0195a0003c0012t0002g0001others(6): Show | 9 | 320 | 0.0281 | 16 | c.196 others(37): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58573266 | A | ATATATGT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(3): Show |
a0004a0007a0012others(2): Show | a0004c0004a0007c0007a0012c0023others(2): Show | a0004c0004t0003a0004c0004t0011a0007c0007t0011others(3): Show | a0004c0004t0003g0253a0004c0004t0011g0094a0007c0007t0011g0113others(3): Show | 6 | 320 | 0.0188 | 16 | c.196 others(35): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02055.hp2 HG02602.hp1 others(7): Show |
a0003a0004a0009others(3): Show | a0003c0003a0004c0004a0009c0008others(3): Show | a0003c0003t0001a0004c0004t0001a0004c0004t0018others(6): Show | a0003c0003t0001g0187a0003c0003t0001g0193a0004c0004t0001g0216others(7): Show | 10 | 320 | 0.0313 | 16 | c.196 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(9): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 HG03927.hp1 NA19005.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0004a0003c0003t0003 | a0001c0001t0001g0122a0002c0002t0004g0121a0003c0003t0003g0267 | 3 | 320 | 0.0094 | 16 | c.-82 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 NA20129.hp1 NA20300.hp2 |
a0002a0003a0011 | a0002c0002a0003c0003a0011c0021 | a0002c0002t0003a0003c0003t0001a0011c0021t0001 | a0002c0002t0003g0301a0003c0003t0001g0276a0011c0021t0001g0275 | 3 | 320 | 0.0094 | 16 | c.-82 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 340 | 0.0029 | 16 | c.305 others(33): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0007 | a0007c0017 | a0007c0017t0025 | a0007c0017t0025g0071 | 1 | 340 | 0.0029 | 16 | c.165 others(35): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 | 1 | 340 | 0.0029 | 16 | c.165 others(35): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATATACA others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01975.hp2 HG02083.hp2 others(1): Show |
a0003a0004 | a0003c0005a0004c0007 | a0003c0005t0003a0004c0007t0003 | a0003c0005t0003g0045a0003c0005t0003g0053a0003c0005t0003g0065others(1): Show | 4 | 340 | 0.0118 | 16 | c.165 others(35): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21552124 | T | TCCCCTCC others(9): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0278 | 1 | 370 | 0.0027 | 16 | c.-10 others(35): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21554815 | G | GTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0152 | 1 | 370 | 0.0027 | 16 | c.61+ others(29): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |