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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(93): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0048 others(10): Show |
13 | 62 | 0.2097 | 100 | c.45- others(115): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(93): Show |
intron_variant | MODIFIER | HG01258.hp1 NA18983.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0176 |
3 | 52 | 0.0577 | 100 | c.45- others(115): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(93): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19063.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0197 others(1): Show |
4 | 53 | 0.0755 | 100 | c.45- others(115): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGCAG others(93): Show |
intron_variant | MODIFIER | HG02015.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0115 |
2 | 243 | 0.0082 | 100 | c.45- others(115): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGCAG others(93): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(21): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 others(21): Show |
24 | 265 | 0.0906 | 100 | c.45- others(115): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATTCTTTC others(93): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 NA19074.hp1 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0025 |
3 | 289 | 0.0104 | 100 | c.-31 others(111): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATTCTTTC others(93): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0049 a0002c0002t0014g0190 |
2 | 288 | 0.0069 | 100 | c.-31 others(111): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATTCTTTC others(93): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 287 | 0.0035 | 100 | c.-31 others(111): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | |||||||
ZNF723_chr19_22827291_22863667 | 22862560 | A | ATGTAATA others(93): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG02258.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0090 others(2): Show |
5 | 315 | 0.0159 | 100 | c.*41 others(111): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3894 | chr19 | TogoVar | |||||||
ZNF723_chr19_22827291_22863667 | 22862560 | A | ATGTAATA others(93): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01978.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0117 |
3 | 313 | 0.0096 | 100 | c.*41 others(111): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3894 | chr19 | TogoVar | |||||||
ZNF732_chr4_265675_310474 | 299444 | T | TATACACA others(93): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03927.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0095 a0004c0004t0001g0238 |
2 | 283 | 0.0071 | 100 | c.4-3 others(113): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ZNF736_chr7_64308961_64361634 | 64357844 | C | CCCACAGC others(93): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(260): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(55): Show | a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 others(221): Show |
263 | 406 | 0.6478 | 100 | c.*86 others(111): Show |
ZNF736 | ENSG00000234444.10 | transcript | ENST00000423484.3 | protein_coding | 1211 | chr7 | TogoVar | |||||||
ZNF98_chr19_22386019_22427346 | 22426345 | A | AATCCCCT others(93): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0139 | 1 | 376 | 0.0027 | 100 | c.-42 others(111): Show |
ZNF98 | ENSG00000197360.9 | transcript | ENST00000357774.9 | protein_coding | 4000 | chr19 | TogoVar | |||||||
ZYG11A_chr1_52837760_52899998 | 52869942 | T | TGGCTGGC others(93): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0020 | a0001c0001t0004g0001 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
11 | 288 | 0.0382 | 100 | c.154 others(119): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11A_chr1_52837760_52899998 | 52869966 | C | CCCCCCAA others(93): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 257 | 0.0039 | 100 | c.154 others(119): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52783838 | A | ATATGTAC others(93): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0153 a0001c0001t0011g0155 a0001c0001t0011g0156 |
3 | 185 | 0.0162 | 100 | c.109 others(119): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52783838 | A | ATATGTAC others(93): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0060 | a0001c0001t0058g0150 a0001c0001t0060g0154 |
2 | 184 | 0.0109 | 100 | c.109 others(119): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52783909 | C | CATACACG others(93): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01433.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0025others(5): Show | a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0178 others(19): Show |
22 | 331 | 0.0665 | 100 | c.109 others(117): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140924 | A | ACCATGGG others(94): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0002c0002others(13): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0011t0001g0195 others(26): Show |
32 | 354 | 0.0904 | 101 | c.56- others(116): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862701 | G | GGCAGGGC others(94): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0005 | a0005c0051 | a0005c0051t0019 | a0005c0051t0019g0210 | 1 | 90 | 0.0111 | 101 | c.422 others(116): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862701 | G | GGCCGGGC others(94): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0268 | 1 | 90 | 0.0111 | 101 | c.422 others(116): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049491 | C | CCCCCCCA others(94): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 20 | 0.0500 | 101 | c.255 others(116): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049592 | G | GCCCCCCC others(94): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0006 | a0006c0019 | a0006c0019t0002 | a0006c0019t0002g0029 | 1 | 15 | 0.0667 | 101 | c.255 others(118): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244644 | A | AGGAAGGA others(94): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0007 | a0007c0069 | a0007c0069t0009 | a0007c0069t0009g0043 | 1 | 155 | 0.0065 | 101 | c.306 others(118): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244644 | A | AGGAAGGA others(94): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0152 | 1 | 155 | 0.0065 | 101 | c.306 others(118): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244652 | A | AGAAAGGA others(94): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG03471.hp2 |
a0002 | a0002c0015a0002c0020a0002c0028 | a0002c0015t0011a0002c0020t0004a0002c0028t0010 | a0002c0015t0011g0016 a0002c0020t0004g0015 a0002c0028t0010g0014 |
3 | 214 | 0.0140 | 101 | c.306 others(118): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244652 | A | AGGAAGGA others(94): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0026 | a0001c0026t0005 | a0001c0026t0005g0133 | 1 | 212 | 0.0047 | 101 | c.306 others(118): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16171923 | G | GATGGATA others(94): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19000.hp2 |
a0001a0038 | a0001c0006a0038c0079 | a0001c0006t0001a0038c0079t0001 | a0001c0006t0001g0329 a0038c0079t0001g0238 |
2 | 352 | 0.0057 | 101 | c.278 others(120): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215427 | C | CCTCCCAA others(94): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 2 | 0.5000 | 101 | c.-32 others(112): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2964 | chr13 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43700732 | C | CCCAGCTA others(94): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03927.hp1 NA18967.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0018a0001c0002t0038 | a0001c0002t0005g0150 a0001c0002t0005g0153 a0001c0002t0018g0154 others(1): Show |
4 | 276 | 0.0145 | 101 | c.133 others(118): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1163490 | G | GCCCCAGA others(94): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 | 1 | 333 | 0.0030 | 101 | c.61+ others(118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC others(94): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 225 | 0.0044 | 101 | c.*37 others(112): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | |||||||
ACR_chr22_50733204_50750339 | 50748737 | C | CCGAGGGG others(94): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 376 | 0.0027 | 101 | c.*35 others(112): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 3399 | chr22 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566645 | C | CTATATAT others(94): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 138 | 0.0072 | 101 | c.-8- others(116): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135028 | A | AGCTCCAG others(94): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp2 |
a0002a0015 | a0002c0108a0015c0084 | a0002c0108t0008a0015c0084t0008 | a0002c0108t0008g0207 a0015c0084t0008g0198 |
2 | 181 | 0.0110 | 101 | c.208 others(118): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135037 | C | CCCCAGCT others(94): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0030 | 1 | 262 | 0.0038 | 101 | c.208 others(118): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72400561 | A | ACGTGTGC others(94): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0001a0003 | a0001c0012a0003c0007 | a0001c0012t0001a0003c0007t0010 | a0001c0012t0001g0018 a0003c0007t0010g0003 |
2 | 180 | 0.0111 | 101 | c.661 others(120): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 906503 | G | GGAGAAAG others(94): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 5 | 0.2000 | 101 | c.389 others(118): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 924446 | C | CAGGTCCA others(94): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 5 | 0.2000 | 101 | c.305 others(118): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1576120 | A | AGGGGGCC others(94): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 106 | 0.0094 | 101 | c.100 others(122): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69031550 | T | TTTCTTTC others(94): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 58 | 0.0172 | 101 | c.210 others(122): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031550 | T | TTTCTTTC others(94): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 58 | 0.0172 | 101 | c.210 others(122): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRG6_chr6_142297007_142451261 | 142318279 | A | ATATATAT others(94): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0062 | 1 | 222 | 0.0045 | 101 | c.103 others(118): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61847874 | A | AAAATATA others(94): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 55 | 0.0182 | 101 | c.148 others(122): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104933898 | G | GCTGAGGG others(94): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 NA19030.hp2 |
a0041a0111 | a0041c0053a0111c0052 | a0041c0053t0002a0111c0052t0002 | a0041c0053t0002g0147 a0111c0052t0002g0146 |
2 | 353 | 0.0057 | 101 | c.*41 others(112): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3354 | chr14 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 324005 | C | CCCTTTCC others(94): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0007 | a0007c0007t0035 | a0007c0007t0035g0228 | 1 | 235 | 0.0043 | 101 | c.-11 others(118): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85613713 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0022 | a0022c0069 | a0022c0069t0002 | a0022c0069t0002g0253 | 1 | 194 | 0.0052 | 101 | c.416 others(122): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85613713 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG02015.hp2 HG04115.hp1 NA18944.hp2 others(5): Show |
a0002a0035 | a0002c0001a0035c0061 | a0002c0001t0002a0002c0001t0007a0002c0001t0045others(1): Show | a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0188 others(5): Show |
8 | 201 | 0.0398 | 101 | c.416 others(122): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85613713 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0165 | 1 | 194 | 0.0052 | 101 | c.416 others(122): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85613713 | T | TATATATG others(94): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03688.hp1 NA19068.hp1 |
a0002a0024 | a0002c0001a0024c0067 | a0002c0001t0002a0002c0001t0007a0024c0067t0029 | a0002c0001t0002g0160 a0002c0001t0007g0235 a0024c0067t0029g0236 |
3 | 196 | 0.0153 | 101 | c.416 others(122): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar |