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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKNA_chr9_114329156_114392982 | 114392104 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01358.hp1 others(9): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(4): Show | a0001c0001t0001g0047 a0001c0001t0003g0165 a0001c0001t0017g0091 others(9): Show |
12 | 199 | 0.0603 | 7 | c.-43 others(18): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4123 | chr9 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00609.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(28): Show |
37 | 46 | 0.8043 | 7 | c.-21 others(18): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549182 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0003 | a0001c0001t0002g0127 a0001c0001t0003g0017 a0001c0001t0003g0218 others(2): Show |
7 | 170 | 0.0412 | 7 | c.-19 others(18): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1643 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243686652 | T | TATATATA | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0181 a0001c0001t0001g0211 others(8): Show |
11 | 220 | 0.0500 | 7 | c.172 others(24): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243845588 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0265 a0001c0001t0002g0153 a0001c0001t0002g0157 others(7): Show |
10 | 106 | 0.0943 | 7 | c.-11 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105548568 | A | AAGTGGAT | intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0280 a0001c0002t0001g0301 a0001c0002t0001g0309 |
3 | 376 | 0.0080 | 7 | c.137 others(26): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(1): Show | a0001c0001t0001g0283 a0001c0002t0001g0018 a0001c0002t0001g0122 others(10): Show |
13 | 17 | 0.7647 | 7 | c.166 others(26): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49454024 | T | TTTTTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00735.hp2 others(58): Show |
a0002a0003a0004others(2): Show | a0002c0003a0002c0007a0003c0004others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(6): Show | a0002c0003t0001g0002 a0002c0003t0001g0007 a0002c0003t0001g0012 others(25): Show |
61 | 332 | 0.1837 | 7 | c.90+ others(20): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49454024 | T | TTTTTTTG | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 a0001c0001t0004g0130 a0001c0001t0004g0131 others(2): Show |
7 | 278 | 0.0252 | 7 | c.90+ others(20): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49454031 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(15): Show | a0001c0001t0001g0045 a0001c0001t0001g0167 a0001c0001t0004g0019 others(65): Show |
98 | 245 | 0.4000 | 7 | c.90+ others(20): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95609769 | A | ATTTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG01517.hp1 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0120 others(8): Show |
14 | 75 | 0.1867 | 7 | c.220 others(24): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 17/17 | chr10 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01169.hp1 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 others(21): Show |
24 | 260 | 0.0923 | 7 | c.117 others(24): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0054 a0001c0001t0004g0051 a0001c0001t0008g0062 others(10): Show |
13 | 96 | 0.1354 | 7 | c.49- others(20): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ALDH3A1_chr17_19732989_19753298 | 19744901 | G | GCCCCCAC | intron_variant | MODIFIER | NA18950.hp1 NA18964.hp1 NA18980.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0014 a0004c0006t0001g0115 |
6 | 81 | 0.0741 | 7 | c.162 others(20): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 2/10 | chr17 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126539014 | A | AGTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(30): Show | a0001c0001t0002g0013 a0001c0001t0002g0050 a0001c0001t0002g0054 others(134): Show |
137 | 144 | 0.9514 | 7 | c.*59 others(18): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2826 | chr5 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02895.hp1 HG03041.hp1 HG03139.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0002t0004a0004c0006t0002 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(2): Show |
9 | 129 | 0.0698 | 7 | c.*28 others(18): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49901827 | G | GTGTGGTA | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0025a0001c0002t0059a0001c0002t0060 | a0001c0002t0025g0030 a0001c0002t0059g0102 a0001c0002t0060g0103 |
4 | 346 | 0.0116 | 7 | c.*20 others(18): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2010 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902514 | C | CTGTGTGG | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02451.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0002c0013others(2): Show | a0001c0002t0006a0001c0002t0024a0001c0008t0023others(3): Show | a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0111 others(12): Show |
20 | 346 | 0.0578 | 7 | c.*13 others(18): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1323 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49921063 | T | TCCACACG | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(35): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0013 | a0001c0004t0009a0001c0004t0018a0001c0004t0021others(8): Show | a0001c0004t0009g0016 a0001c0004t0009g0093 a0001c0004t0009g0094 others(20): Show |
38 | 346 | 0.1098 | 7 | c.-28 others(18): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 2626 | chr22 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(13): Show |
23 | 33 | 0.6970 | 7 | c.-29 others(18): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02735.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0092 others(2): Show |
6 | 22 | 0.2727 | 7 | c.-17 others(18): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ALG2_chr9_99211425_99226942 | 99220674 | A | AAAGAAGT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01256.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0025 a0001c0001t0002g0007 a0002c0003t0001g0005 others(4): Show |
18 | 374 | 0.0481 | 7 | c.348 others(22): Show |
ALG2 | ENSG00000119523.10 | transcript | ENST00000476832.2 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63387532 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0069 others(6): Show |
9 | 125 | 0.0720 | 7 | c.83- others(22): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422322 | A | ATATAAAT | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0010a0001c0003t0012others(3): Show | a0001c0003t0009g0164 a0001c0003t0009g0165 a0001c0003t0009g0166 others(12): Show |
15 | 386 | 0.0389 | 7 | c.105 others(26): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | chr1 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111780394 | G | GTTTTGTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(68): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0210 others(67): Show |
71 | 310 | 0.2290 | 7 | c.*60 others(18): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 1800 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111780405 | T | TGTTTTTC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0231 a0001c0001t0007g0245 a0001c0001t0007g0264 |
3 | 312 | 0.0096 | 7 | c.*59 others(18): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 1789 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111812915 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 others(65): Show |
72 | 85 | 0.8471 | 7 | c.160 others(26): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77678208 | T | TTATGAGG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00733.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 a0001c0001t0005g0031 a0001c0001t0005g0270 |
6 | 358 | 0.0168 | 7 | c.546 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4/5 | chr14 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGATA | intron_variant | MODIFIER | HG01346.hp1 HG02970.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0002 a0001c0001t0002g0134 a0001c0001t0002g0182 others(1): Show |
4 | 372 | 0.0108 | 7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGGTA | intron_variant | MODIFIER | HG00558.hp1 HG01993.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0260 a0001c0001t0002g0003 a0001c0001t0002g0041 others(2): Show |
5 | 373 | 0.0134 | 7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0020a0002c0011a0002c0028others(5): Show | a0001c0020t0005a0002c0011t0001a0002c0028t0001others(5): Show | a0001c0020t0005g0005 a0002c0011t0001g0042 a0002c0028t0001g0014 others(5): Show |
8 | 11 | 0.7273 | 7 | c.393 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29396836 | G | GTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0009a0001c0027a0001c0035others(3): Show | a0001c0009t0005a0001c0027t0001a0001c0035t0001others(3): Show | a0001c0009t0005g0018 a0001c0027t0001g0013 a0001c0035t0001g0068 others(3): Show |
6 | 14 | 0.4286 | 7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29583035 | G | GTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0004 | a0001c0004a0001c0009a0001c0039others(6): Show | a0001c0004t0001a0001c0009t0005a0001c0039t0013others(6): Show | a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0039t0013g0079 others(6): Show |
9 | 70 | 0.1286 | 7 | c.953 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29583042 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0023a0001c0025others(7): Show | a0001c0009t0005a0001c0023t0010a0001c0025t0011others(7): Show | a0001c0009t0005g0054 a0001c0023t0010g0076 a0001c0025t0011g0074 others(8): Show |
11 | 42 | 0.2619 | 7 | c.953 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29637709 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0016a0001c0023a0001c0025others(24): Show | a0001c0016t0007a0001c0023t0010a0001c0025t0011others(24): Show | a0001c0016t0007g0004 a0001c0023t0010g0076 a0001c0025t0011g0074 others(30): Show |
33 | 48 | 0.6875 | 7 | c.952 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29725154 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(26): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(26): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0009t0005g0054 others(32): Show |
35 | 44 | 0.7955 | 7 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29888246 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0003 | a0001c0006a0001c0058a0002c0008others(2): Show | a0001c0006t0001a0001c0058t0001a0002c0008t0001others(2): Show | a0001c0006t0001g0026 a0001c0058t0001g0024 a0002c0008t0001g0049 others(2): Show |
5 | 45 | 0.1111 | 7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690348 | T | TCCCCTCC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0007 a0002c0002t0001g0071 a0002c0002t0001g0085 others(22): Show |
26 | 246 | 0.1057 | 7 | c.512 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690363 | C | CCTCCCCT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0006 a0003c0003t0002g0032 a0003c0003t0002g0033 others(2): Show |
6 | 261 | 0.0230 | 7 | c.512 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01433.hp2 others(9): Show |
a0001a0005 | a0001c0003a0001c0012a0001c0013others(4): Show | a0001c0003t0002a0001c0012t0001a0001c0013t0001others(4): Show | a0001c0003t0002g0083 a0001c0012t0001g0202 a0001c0013t0001g0241 others(9): Show |
12 | 102 | 0.1176 | 7 | c.325 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0005others(5): Show | a0001c0003a0001c0012a0001c0019others(15): Show | a0001c0003t0002a0001c0012t0001a0001c0019t0002others(16): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(41): Show |
44 | 85 | 0.5176 | 7 | c.767 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
a0001a0010a0019 | a0001c0003a0001c0004a0010c0017others(1): Show | a0001c0003t0002a0001c0004t0001a0010c0017t0003others(1): Show | a0001c0003t0002g0070 a0001c0004t0001g0005 a0001c0004t0001g0052 others(3): Show |
6 | 46 | 0.1304 | 7 | c.767 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01361.hp2 others(4): Show |
a0001a0008 | a0001c0003a0001c0012a0001c0039others(3): Show | a0001c0003t0002a0001c0012t0001a0001c0039t0001others(3): Show | a0001c0003t0002g0081 a0001c0012t0001g0202 a0001c0012t0001g0209 others(4): Show |
7 | 124 | 0.0565 | 7 | c.115 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01168.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005 | a0002c0002t0001g0006 a0002c0002t0001g0060 a0002c0002t0001g0084 others(3): Show |
12 | 42 | 0.2857 | 7 | c.141 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAGAAAG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
a0001a0002a0009 | a0001c0005a0002c0002a0002c0003others(1): Show | a0001c0005t0002a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0005t0002g0004 a0001c0005t0004g0001 a0001c0005t0008g0001 others(10): Show |
26 | 425 | 0.0612 | 7 | c.449 others(22): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGATAGA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02145.hp1 others(22): Show |
a0001a0003a0017others(1): Show | a0001c0008a0001c0014a0003c0004others(2): Show | a0001c0008t0001a0001c0014t0001a0003c0004t0001others(4): Show | a0001c0008t0001g0204 a0001c0014t0001g0065 a0003c0004t0001g0059 others(21): Show |
25 | 438 | 0.0571 | 7 | c.*41 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232411113 | G | GGAGGGTA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG03453.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0009 | 4 | 432 | 0.0093 | 7 | c.*12 others(18): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 400 | chr2 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112314366 | G | GTTGGATT | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0090 others(34): Show |
38 | 304 | 0.1250 | 7 | c.-15 others(26): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58479164 | A | ATATTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(18): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0014a0003c0004others(12): Show | a0001c0002t0004a0001c0002t0007a0001c0014t0004others(13): Show | a0001c0002t0004g0121 a0001c0002t0007g0061 a0001c0002t0007g0075 others(18): Show |
21 | 217 | 0.0968 | 7 | c.*26 others(18): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2082 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02809.hp1 others(11): Show |
a0008a0011a0015others(1): Show | a0008c0027a0008c0041a0011c0008others(4): Show | a0008c0027t0002a0008c0041t0003a0011c0008t0001others(9): Show | a0008c0027t0002g0021 a0008c0027t0002g0074 a0008c0041t0003g0135 others(11): Show |
14 | 36 | 0.3889 | 7 | c.566 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar |