view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKTIP_chr16_53486040_53508209 | 53494939 | G | GAAGTCCC others(8): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 384 | 0.0026 | 15 | c.414 others(30): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 5/9 | chr16 | TogoVar | |||||||
AKTIP_chr16_53486040_53508209 | 53503268 | T | TGCCCCAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 300 | 0.0033 | 15 | c.-19 others(24): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 60 | chr16 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0002g0086 others(2): Show |
5 | 146 | 0.0342 | 15 | c.*65 others(26): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52194038 | A | AGAAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 352 | 0.0028 | 15 | c.-44 others(26): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4121 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55029181 | T | TCAACAAC others(8): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 282 | 0.0035 | 15 | c.-16 others(32): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 1/10 | chrX | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105368264 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20805.hp2 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0003a0004c0007t0001 | a0001c0002t0003g0132 a0004c0007t0001g0140 |
2 | 348 | 0.0057 | 15 | c.73+ others(28): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105454653 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04228.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0094 a0001c0003t0002g0076 |
2 | 43 | 0.0465 | 15 | c.74- others(32): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0008 | a0001c0002t0001g0035 a0001c0002t0003g0028 a0001c0002t0003g0133 others(4): Show |
7 | 11 | 0.6364 | 15 | c.166 others(34): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 183 | 0.0055 | 15 | c.194 others(30): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105071643 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 368 | 0.0027 | 15 | c.194 others(30): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105088569 | A | AAACAACA others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03041.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0225 a0001c0001t0005g0007 a0001c0001t0006g0216 others(2): Show |
5 | 19 | 0.2632 | 15 | c.-41 others(26): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4112 | chr12 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68030111 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0072 |
2 | 281 | 0.0071 | 15 | c.*21 others(26): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 836 | chr11 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68030889 | A | AGCCGGCC others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0003t0002others(10): Show | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0056 others(33): Show |
92 | 372 | 0.2473 | 15 | c.*29 others(26): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 1614 | chr11 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 56 | 0.0179 | 15 | c.355 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24506243 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 68 | 0.0147 | 15 | c.726 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24508361 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02602.hp2 others(12): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0002c0002t0020a0003c0003t0001others(1): Show | a0002c0002t0005g0065 a0002c0002t0005g0066 a0002c0002t0005g0069 others(11): Show |
15 | 287 | 0.0523 | 15 | c.726 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0127 | 1 | 202 | 0.0050 | 15 | c.696 others(30): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38313652 | A | ACTGTAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(432): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(85): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(94): Show |
435 | 450 | 0.9667 | 15 | c.-32 others(26): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3121 | chr12 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38333798 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 NA19090.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0045 | a0001c0002t0008g0003 a0001c0003t0045g0004 |
2 | 439 | 0.0046 | 15 | c.*12 others(28): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4078 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 2 | 122 | 0.0164 | 15 | c.*28 others(26): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49923336 | T | TCTGCACC others(8): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 230 | 0.0043 | 15 | c.-51 others(26): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4899 | chr22 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95046973 | A | AAACATAA others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18942.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0353 a0001c0001t0002g0220 a0001c0001t0002g0221 others(3): Show |
6 | 125 | 0.0480 | 15 | c.288 others(34): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 NA18999.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 |
3 | 19 | 0.1579 | 15 | c.-17 others(26): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ALG1_chr16_5066843_5092379 | 5068700 | A | AAAATAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01257.hp1 others(41): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0002a0002c0003t0004a0003c0004t0002others(3): Show | a0001c0002t0002g0002 a0002c0003t0004g0003 a0003c0004t0002g0002 others(13): Show |
44 | 405 | 0.1086 | 15 | c.-31 others(26): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 3142 | chr16 | TogoVar | |||||||
ALG1_chr16_5066843_5092379 | 5087881 | A | AAGTGAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0053 | 1 | 442 | 0.0023 | 15 | c.*30 others(26): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 503 | chr16 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78143317 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0329 |
2 | 113 | 0.0177 | 15 | c.-37 others(26): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111826066 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02109.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0294 others(40): Show |
43 | 46 | 0.9348 | 15 | c.160 others(36): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111850706 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG06807.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0001 | a0001c0001t0006g0142 a0003c0003t0001g0123 a0003c0003t0001g0124 others(1): Show |
4 | 13 | 0.3077 | 15 | c.895 others(32): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/14 | chr11 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGATA others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01981.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0003 a0001c0001t0002g0162 a0001c0001t0002g0164 others(1): Show |
4 | 372 | 0.0108 | 15 | c.852 others(32): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
ALKBH7_chr19_6367794_6380250 | 6378666 | G | GCGACATT others(8): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 15 | c.*36 others(26): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 3417 | chr19 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0039 | a0001c0039t0013 | a0001c0039t0013g0079 | 1 | 4 | 0.2500 | 15 | c.393 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29211774 | G | GAAAAGAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(19): Show |
a0001a0002a0006others(1): Show | a0001c0006a0001c0016a0001c0017others(16): Show | a0001c0006t0007a0001c0016t0007a0001c0017t0001others(16): Show | a0001c0006t0007g0056 a0001c0016t0007g0004 a0001c0017t0001g0012 others(19): Show |
22 | 80 | 0.2750 | 15 | c.374 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 24/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29232035 | G | GCAAGTTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0016a0001c0017others(26): Show | a0001c0004t0001a0001c0004t0008a0001c0016t0007others(27): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(36): Show |
39 | 80 | 0.4875 | 15 | c.263 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 15/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29288951 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 |
a0001a0002 | a0001c0053a0002c0001 | a0001c0053t0001a0002c0001t0001 | a0001c0053t0001g0070 a0002c0001t0001g0061 |
2 | 74 | 0.0270 | 15 | c.181 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29637709 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(2): Show |
a0001a0003a0005 | a0001c0020a0001c0022a0003c0010others(1): Show | a0001c0020t0005a0001c0022t0001a0003c0010t0006others(1): Show | a0001c0020t0005g0005 a0001c0022t0001g0007 a0003c0010t0006g0001 others(2): Show |
5 | 20 | 0.2500 | 15 | c.952 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29677235 | T | TCTCCCCT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0054 | 1 | 23 | 0.0435 | 15 | c.952 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29802409 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0049 | 1 | 63 | 0.0159 | 15 | c.668 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29802409 | G | GAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0016a0001c0027others(9): Show | a0001c0009t0005a0001c0016t0007a0001c0027t0001others(9): Show | a0001c0009t0005g0054 a0001c0016t0007g0004 a0001c0027t0001g0013 others(9): Show |
12 | 74 | 0.1622 | 15 | c.668 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831118 | A | AGAAGGGG others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp2 |
a0004a0005 | a0004c0002a0005c0046 | a0004c0002t0003a0005c0046t0004 | a0004c0002t0003g0025 a0005c0046t0004g0053 |
2 | 71 | 0.0282 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831259 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0056 | 1 | 14 | 0.0714 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29876294 | G | GTGGTGAT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0023a0001c0025a0001c0027others(5): Show | a0001c0023t0010a0001c0025t0011a0001c0027t0001others(5): Show | a0001c0023t0010g0076 a0001c0025t0011g0074 a0001c0027t0001g0013 others(5): Show |
8 | 80 | 0.1000 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690443 | T | TCCCCCCC others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0205 | 1 | 271 | 0.0037 | 15 | c.512 others(32): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73517246 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01261.hp2 others(23): Show |
a0001a0004a0005others(2): Show | a0001c0003a0001c0004a0001c0012others(9): Show | a0001c0003t0002a0001c0004t0001a0001c0012t0001others(9): Show | a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 others(23): Show |
26 | 117 | 0.2222 | 15 | c.954 others(34): 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(8): Show |
intron_variant | MODIFIER | NA18989.hp1 NA19000.hp1 NA19240.hp2 others(1): Show |
a0003a0008a0012 | a0003c0002a0008c0062a0012c0029 | a0003c0002t0001a0008c0062t0001a0012c0029t0001 | a0003c0002t0001g0023 a0003c0002t0001g0028 a0008c0062t0001g0121 others(1): Show |
4 | 99 | 0.0404 | 15 | c.115 others(36): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 31 | 0.0323 | 15 | c.141 others(30): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18973.hp2 NA18977.hp1 |
a0001a0004 | a0001c0005a0004c0006 | a0001c0005t0004a0004c0006t0003 | a0001c0005t0004g0001 a0004c0006t0003g0040 |
3 | 402 | 0.0075 | 15 | c.449 others(30): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG02258.hp2 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0011 | a0001c0001t0001a0003c0004t0001a0003c0004t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0210 a0003c0004t0001g0132 others(4): Show |
7 | 32 | 0.2188 | 15 | c.*17 others(26): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGATAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0044 | 1 | 414 | 0.0024 | 15 | c.*41 others(26): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45384833 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0183 a0001c0002t0002g0292 |
2 | 315 | 0.0063 | 15 | c.349 others(32): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8101810 | T | TTGTGTTT others(8): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0306 | 1 | 420 | 0.0024 | 15 | c.195 others(34): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar |