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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(422): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0092 | 1 | 228 | 0.0044 | 429 | c.259 others(450): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100058241 | C | CTAACACC others(422): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02451.hp2 HG02630.hp2 others(1): Show |
a0001a0002a0004 | a0001c0005a0002c0051a0004c0003 | a0001c0005t0005a0001c0005t0053a0002c0051t0006others(1): Show | a0001c0005t0005g0193 a0001c0005t0053g0222 a0002c0051t0006g0107 others(1): Show |
4 | 228 | 0.0175 | 429 | c.213 others(448): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69100947 | A | AAGGAAGG others(422): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01257.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0084 a0001c0002t0001g0010 a0001c0002t0002g0113 others(7): Show |
10 | 120 | 0.0833 | 429 | c.248 others(450): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344666 | G | GTGTGTGT others(422): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18967.hp2 |
a0002a0018 | a0002c0002a0018c0027 | a0002c0002t0001a0018c0027t0019 | a0002c0002t0001g0075 a0018c0027t0019g0111 |
2 | 268 | 0.0075 | 429 | c.62+ others(442): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGGGAG others(422): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 350 | 0.0029 | 429 | c.248 others(444): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(422): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 268 | 0.0037 | 429 | c.604 others(444): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(422): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02132.hp1 HG02622.hp2 others(16): Show |
a0001a0003a0015 | a0001c0001a0003c0022a0015c0031 | a0001c0001t0001a0003c0022t0001a0015c0031t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 others(16): Show |
19 | 268 | 0.0709 | 429 | c.604 others(444): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980331 | C | CTGCCCGG others(422): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG03654.hp2 |
a0001a0004 | a0001c0001a0004c0030 | a0001c0001t0007a0001c0001t0019a0004c0030t0007 | a0001c0001t0007g0088 a0001c0001t0019g0020 a0004c0030t0007g0105 |
3 | 268 | 0.0112 | 429 | c.604 others(444): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687097 | A | ACACTGGC others(422): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 246 | 0.0041 | 429 | c.-14 others(440): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1252 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCGTGA others(422): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 246 | 0.0041 | 429 | c.-15 others(440): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(422): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0080 | 1 | 102 | 0.0098 | 429 | c.204 others(450): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(422): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0169 | 1 | 298 | 0.0034 | 429 | c.955 others(446): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829178 | G | GTCAGATG others(422): Show |
intron_variant | MODIFIER | HG01074.hp2 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 a0001c0003t0001g0055 |
2 | 391 | 0.0051 | 429 | c.216 others(444): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82972085 | C | CCACGGGC others(422): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0194 | 1 | 266 | 0.0038 | 429 | c.460 others(446): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467102 | G | GTGGTGGT others(422): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0232 | 1 | 262 | 0.0038 | 429 | c.487 others(446): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432100 | C | CGGTCTGG others(422): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0223 | 1 | 360 | 0.0028 | 429 | c.92- others(444): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(422): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0138 | 1 | 292 | 0.0034 | 429 | c.*21 others(444): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(422): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0028 others(51): Show |
78 | 292 | 0.2671 | 429 | c.*21 others(444): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(422): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 292 | 0.0034 | 429 | c.*21 others(444): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(422): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 292 | 0.0034 | 429 | c.*21 others(444): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279137 | A | AGGGACGG others(422): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 410 | 0.0024 | 429 | c.465 others(442): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004047 | G | GGTGATGA others(422): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 346 | 0.0029 | 429 | c.963 others(446): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(422): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0004 | a0004c0004 | a0004c0004t0059 | a0004c0004t0059g0058 | 1 | 236 | 0.0042 | 429 | c.482 others(446): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(422): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 242 | 0.0041 | 429 | c.-31 others(440): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(422): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 HG02559.hp1 NA18998.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0018 | a0001c0001t0004a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0004g0019 a0001c0001t0004g0148 a0001c0001t0005g0159 others(2): Show |
5 | 242 | 0.0207 | 429 | c.-31 others(440): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025 | 2 | 408 | 0.0049 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 408 | 0.0025 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0032 a0001c0001t0020g0105 |
3 | 408 | 0.0074 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 408 | 0.0025 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG02083.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0008g0084 |
7 | 408 | 0.0172 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 408 | 0.0025 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0016 others(13): Show |
55 | 408 | 0.1348 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 408 | 0.0025 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(59): Show |
301 | 408 | 0.7378 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC163_chr1_45488866_45505073 | 45497643 | C | CGCCACCC others(422): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0077 |
2 | 408 | 0.0049 | 429 | c.178 others(444): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882177 | A | AAGGAAAG others(422): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0006 | 1 | 288 | 0.0035 | 429 | c.303 others(448): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914127 | C | CCCCGAGG others(422): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0017 | a0017c0100 | a0017c0100t0002 | a0017c0100t0002g0114 | 1 | 246 | 0.0041 | 429 | c.212 others(446): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914655 | G | GCCCGAGG others(422): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0016 | a0016c0099 | a0016c0099t0001 | a0016c0099t0001g0119 | 1 | 246 | 0.0041 | 429 | c.212 others(448): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914682 | A | ACCCCGGC others(422): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0015 | a0015c0063 | a0015c0063t0001 | a0015c0063t0001g0155 | 1 | 246 | 0.0041 | 429 | c.212 others(448): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914754 | G | GCCCGAGG others(422): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0068 | a0068c0047 | a0068c0047t0001 | a0068c0047t0001g0143 | 1 | 246 | 0.0041 | 429 | c.212 others(448): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CCTTCCCT others(422): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0167 | 1 | 236 | 0.0042 | 429 | c.321 others(448): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CCTTCCCT others(422): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 |
2 | 236 | 0.0085 | 429 | c.321 others(448): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101223530 | T | TACTTCCA others(422): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03195.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0018a0001c0003t0026a0001c0016t0033others(1): Show | a0001c0001t0018g0058 a0001c0001t0018g0059 a0001c0003t0026g0055 others(2): Show |
5 | 422 | 0.0119 | 429 | c.816 others(448): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79753746 | C | CTGTTTGA others(422): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00609.hp1 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0019a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0019t0002others(11): Show | a0001c0001t0001g0065 a0001c0001t0001g0235 a0001c0001t0002g0197 others(26): Show |
29 | 358 | 0.0810 | 429 | c.111 others(448): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45990459 | A | AGGAGGGA others(422): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0019 | a0019c0055 | a0019c0055t0001 | a0019c0055t0001g0115 | 1 | 128 | 0.0078 | 429 | c.100 others(444): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45990459 | A | AGGAGGGA others(422): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119 | 1 | 128 | 0.0078 | 429 | c.100 others(444): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(422): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 367 | 0.0027 | 429 | c.-42 others(440): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(422): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 204 | 0.0049 | 429 | c.443 others(448): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC5_chr22_31749019_31913033 | 31903383 | C | CCCACCTT others(422): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 204 | 0.0049 | 429 | c.443 others(448): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516740 | G | GTAGGGTG others(422): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 88 | 0.0114 | 429 | c.86- others(446): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar |