| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(835): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 a0001c0001t0004g0087 |
2 | 10 | 0.2000 | 842 | c.4-1 others(855): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(835): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 9 | 0.1111 | 842 | c.4-1 others(855): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(836): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0055 | 1 | 181 | 0.0055 | 843 | c.-37 others(854): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
| ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(836): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG03688.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0030 |
2 | 168 | 0.0119 | 843 | c.-46 others(854): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | |||||||
| ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(836): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 a0001c0002t0002g0157 a0001c0002t0002g0159 others(1): Show |
4 | 221 | 0.0181 | 843 | c.*36 others(854): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGGC others(836): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG03486.hp1 others(1): Show |
a0002a0018 | a0002c0035a0018c0029 | a0002c0035t0001a0018c0029t0001 | a0002c0035t0001g0155 a0002c0035t0001g0288 a0018c0029t0001g0170 others(1): Show |
4 | 106 | 0.0377 | 843 | c.300 others(860): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(836): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0005 | 1 | 5 | 0.2000 | 843 | c.234 others(864): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(836): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02615.hp1 HG02622.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 a0003c0004t0003g0080 a0003c0004t0003g0081 others(2): Show |
6 | 61 | 0.0984 | 843 | c.-29 others(854): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(836): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0171 a0001c0001t0028g0170 |
2 | 39 | 0.0513 | 843 | c.248 others(860): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(836): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 38 | 0.0263 | 843 | c.248 others(860): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(836): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0194 | 1 | 38 | 0.0263 | 843 | c.248 others(860): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(836): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 38 | 0.0263 | 843 | c.248 others(860): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(836): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0007 | a0007c0008 | a0007c0008t0030 | a0007c0008t0030g0041 | 1 | 38 | 0.0263 | 843 | c.248 others(860): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45500846 | G | GTGTGTGT others(836): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 |
a0008 | a0008c0038a0008c0101 | a0008c0038t0001a0008c0101t0002 | a0008c0038t0001g0174 a0008c0101t0002g0003 |
2 | 286 | 0.0070 | 843 | c.268 others(862): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(836): Show |
intron_variant | MODIFIER | HG01358.hp1 HG04115.hp2 |
a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0055 a0005c0009t0004g0056 |
2 | 197 | 0.0102 | 843 | c.181 others(862): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
| CSF2RA_chrX_1263814_1314935 | 1304171 | G | GGCCGAGG others(836): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 152 | 0.0066 | 843 | c.104 others(860): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1304171 | G | GGCCGAGG others(836): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp1 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0051 a0001c0001t0003g0134 a0001c0001t0003g0149 others(1): Show |
4 | 155 | 0.0258 | 843 | c.104 others(860): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1304171 | G | GGCCGAGG others(836): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 152 | 0.0066 | 843 | c.104 others(860): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232275 | T | TATTACTG others(836): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 36 | 0.0278 | 843 | c.513 others(858): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(836): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 2 | 0.5000 | 843 | c.-51 others(854): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | |||||||
| FHL5_chr6_96558128_96623626 | 96607286 | T | TTCAAAGT others(836): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0009a0004c0005t0001 | a0001c0001t0009g0066 a0004c0005t0001g0065 |
2 | 369 | 0.0054 | 843 | c.504 others(860): Show |
FHL5 | ENSG00000112214.11 | transcript | ENST00000450218.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113826410 | G | GGCCTCCT others(836): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0125 | 1 | 92 | 0.0109 | 843 | c.147 others(860): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
| ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(836): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 149 | 0.0067 | 843 | c.804 others(860): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATGGA others(836): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 320 | 0.0031 | 843 | c.666 others(860): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(836): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 312 | 0.0064 | 843 | c.-30 others(854): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(836): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 67 | 0.0149 | 843 | c.683 others(862): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(836): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 80 | 0.0125 | 843 | c.125 others(860): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(836): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0260 | 1 | 80 | 0.0125 | 843 | c.125 others(860): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(836): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 843 | c.-42 others(854): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02132.hp1 NA19072.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0006t0010 | a0001c0001t0002g0049 a0001c0001t0003g0209 a0001c0006t0010g0008 |
3 | 125 | 0.0240 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 123 | 0.0081 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18979.hp1 NA19003.hp1 |
a0001a0015 | a0001c0001a0015c0018 | a0001c0001t0001a0001c0001t0003a0015c0018t0003 | a0001c0001t0001g0154 a0001c0001t0003g0118 a0015c0018t0003g0161 |
3 | 125 | 0.0240 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03516.hp1 |
a0001 | a0001c0013 | a0001c0013t0003a0001c0013t0044 | a0001c0013t0003g0139 a0001c0013t0044g0225 |
2 | 124 | 0.0161 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01261.hp1 others(9): Show |
a0001a0009 | a0001c0001a0001c0006a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0003g0168 others(9): Show |
12 | 134 | 0.0896 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011a0001c0002t0014 | a0001c0002t0001g0097 a0001c0002t0011g0181 a0001c0002t0011g0182 others(2): Show |
5 | 127 | 0.0394 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 123 | 0.0081 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(836): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03471.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0128 a0001c0001t0002g0050 a0001c0001t0014g0016 others(1): Show |
4 | 126 | 0.0317 | 843 | c.213 others(862): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(836): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 173 | 0.0058 | 843 | c.641 others(858): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(836): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 173 | 0.0058 | 843 | c.641 others(858): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(836): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 173 | 0.0058 | 843 | c.641 others(858): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(836): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0310 | 1 | 242 | 0.0041 | 843 | c.-5+ others(858): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| MTERF3_chr8_96234402_96266610 | 96250681 | A | AAGGAGAA others(836): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 161 | 0.0062 | 843 | c.677 others(858): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
| MYRIP_chr3_39804609_40265321 | 40203833 | A | ATAAATAT others(836): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0015 | a0001c0015t0005 | a0001c0015t0005g0038 | 1 | 91 | 0.0110 | 843 | c.166 others(862): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807333 | C | CCTCCCTC others(836): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0103 | 1 | 317 | 0.0032 | 843 | c.-19 others(854): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1859 | chr2 | TogoVar | |||||||
| NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(836): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0015 | 1 | 10 | 0.1000 | 843 | c.326 others(866): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56739350 | C | CCCCCCCC others(836): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0231 | 1 | 351 | 0.0028 | 843 | c.-14 others(860): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56739350 | C | CCCCCCCC others(836): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01496.hp2 HG01978.hp2 |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0004a0003c0015t0004 | a0001c0001t0004g0232 a0001c0001t0004g0234 a0003c0015t0004g0233 |
3 | 353 | 0.0085 | 843 | c.-14 others(860): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56739406 | A | AACCTCCC others(836): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0046 | a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0011g0008 others(3): Show |
6 | 262 | 0.0229 | 843 | c.-14 others(860): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(836): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 248 | 0.0040 | 843 | c.*35 others(854): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
| PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(836): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 67 | 0.0149 | 843 | c.306 others(862): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |