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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMTL_chrX_1398139_1457909 | 1415214 | T | TCCAGGCA others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG01891.hp2 others(4): Show |
a0001a0007a0012 | a0001c0010a0001c0037a0007c0016others(1): Show | a0001c0010t0001a0001c0037t0001a0007c0016t0001others(1): Show | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(4): Show |
7 | 24 | 0.2917 | 25 | c.152 others(44): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1415214 | T | TCCAGGCG others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(117): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0031others(18): Show | a0001c0001t0001a0001c0008t0001a0001c0031t0001others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(115): Show |
120 | 137 | 0.8759 | 25 | c.152 others(44): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1415214 | T | TCCAGGCG others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0012a0002c0003a0002c0004others(8): Show | a0001c0012t0001a0002c0003t0001a0002c0003t0002others(10): Show | a0001c0012t0001g0070 a0001c0012t0001g0167 a0002c0003t0001g0120 others(36): Show |
39 | 56 | 0.6964 | 25 | c.152 others(44): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1613197 | T | TTCTTTCT others(18): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 NA19010.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0102 a0002c0002t0001g0046 |
2 | 218 | 0.0092 | 25 | c.-20 others(36): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1861 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1625551 | A | AGGGAGGG others(18): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 129 | 0.0078 | 25 | c.374 others(42): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASPM_chr1_197079127_197151669 | 197145868 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0040 | 1 | 289 | 0.0035 | 25 | c.297 others(40): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0134 |
2 | 29 | 0.0690 | 25 | c.-18 others(36): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62362461 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00639.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(27): Show |
30 | 368 | 0.0815 | 25 | c.491 others(42): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362521 | T | TTATATAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0075 others(5): Show |
9 | 308 | 0.0292 | 25 | c.491 others(42): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AAAGAAAA others(18): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0016 | a0003c0016t0004 | a0003c0016t0004g0027 | 1 | 31 | 0.0323 | 25 | c.307 others(46): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32378003 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0264 | 1 | 276 | 0.0036 | 25 | c.252 others(42): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23878025 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 190 | 0.0053 | 25 | c.902 others(42): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123377091 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02523.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0241 others(3): Show |
6 | 52 | 0.1154 | 25 | c.320 others(42): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 2/27 | chr8 | TogoVar | |||||||
ATAD2_chr8_123314850_123401447 | 123381498 | C | CACAAAAC others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0252 a0002c0003t0001g0256 a0002c0003t0001g0257 others(2): Show |
5 | 262 | 0.0191 | 25 | c.172 others(40): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 1/27 | chr8 | TogoVar | |||||||
ATAT1_chr6_30621874_30651821 | 30636269 | G | GAGCAAAG others(18): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0116 | 1 | 404 | 0.0025 | 25 | c.538 others(42): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATE1_chr10_121735424_121933031 | 121903068 | G | GTTGGCCA others(18): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01168.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0102 a0001c0001t0001g0212 a0001c0001t0001g0213 others(28): Show |
31 | 316 | 0.0981 | 25 | c.584 others(40): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 5/11 | chr10 | TogoVar | |||||||
ATE1_chr10_121735424_121933031 | 121903073 | C | CCAGACTG others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0189 others(8): Show |
11 | 297 | 0.0370 | 25 | c.584 others(40): Show |
ATE1 | ENSG00000107669.19 | transcript | ENST00000224652.12 | protein_coding | 5/11 | chr10 | TogoVar | |||||||
ATF6_chr1_161761320_161969070 | 161920294 | C | CTCTTTTT others(18): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0148 | 1 | 2 | 0.5000 | 25 | c.180 others(44): Show |
ATF6 | ENSG00000118217.7 | transcript | ENST00000367942.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATF7_chr12_53507054_53631382 | 53587366 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01109.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0057 a0001c0001t0001g0193 a0001c0001t0001g0195 others(31): Show |
34 | 122 | 0.2787 | 25 | c.48+ others(42): Show |
ATF7 | ENSG00000170653.19 | transcript | ENST00000420353.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81967163 | A | AAAAATAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(11): Show | a0001c0001t0003g0110 a0001c0001t0005g0015 a0001c0001t0005g0020 others(23): Show |
26 | 33 | 0.7879 | 25 | c.-51 others(36): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 4859 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81976263 | C | CGGCCAAA others(18): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0119 | 1 | 224 | 0.0045 | 25 | c.-13 others(42): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01993.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0042a0001c0001t0043others(1): Show | a0001c0001t0005g0010 a0001c0001t0005g0019 a0001c0001t0005g0020 others(6): Show |
9 | 157 | 0.0573 | 25 | c.108 others(42): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03834.hp1 HG04228.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0004 | a0003c0003t0001g0177 a0004c0004t0004g0182 a0004c0004t0004g0196 |
3 | 188 | 0.0160 | 25 | c.217 others(44): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG4B_chr2_241632693_241678857 | 241642871 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0155 | 1 | 63 | 0.0159 | 25 | c.10+ others(40): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02486.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0069 a0001c0001t0005g0177 |
2 | 17 | 0.1176 | 25 | c.187 others(44): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63657208 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0039 | 1 | 196 | 0.0051 | 25 | c.405 others(42): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25732558 | C | CTACATGC others(18): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 16 | 0.0625 | 25 | c.740 others(42): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160650118 | T | TTTATATA others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18906.hp2 |
a0001 | a0001c0008a0001c0029 | a0001c0008t0019a0001c0029t0047 | a0001c0008t0019g0087 a0001c0029t0047g0219 |
2 | 217 | 0.0092 | 25 | c.676 others(40): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653598 | C | CATATATA others(18): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0020 | a0020c0025 | a0020c0025t0033 | a0020c0025t0033g0212 | 1 | 142 | 0.0070 | 25 | c.676 others(42): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653774 | A | ATATATAC others(18): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0004 | a0002c0004t0052 | a0002c0004t0052g0235 | 1 | 232 | 0.0043 | 25 | c.676 others(42): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0014 | a0010c0014t0050 | a0010c0014t0050g0106 | 1 | 33 | 0.0303 | 25 | c.-20 others(46): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182839604 | A | ATTTATTT others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(31): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0004a0001c0002t0006a0001c0002t0010others(4): Show | a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0123 others(29): Show |
34 | 178 | 0.1910 | 25 | c.656 others(42): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24714342 | T | TCGACAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 231 | 0.0043 | 25 | c.*28 others(36): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 1871 | chr13 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18975.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0279 a0003c0005t0001g0287 |
2 | 220 | 0.0091 | 25 | c.60+ others(42): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP2B3_chrX_153512642_153587929 | 153571498 | C | CAGGGGTG others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0228 | 1 | 265 | 0.0038 | 25 | c.334 others(44): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTTCC others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0279 a0001c0001t0001g0280 others(1): Show |
4 | 112 | 0.0357 | 25 | c.6+8 others(38): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18994.hp2 NA18998.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0002t0002a0002c0004t0001others(2): Show | a0001c0001t0002g0199 a0001c0002t0002g0246 a0002c0004t0001g0328 others(2): Show |
5 | 24 | 0.2083 | 25 | c.100 others(40): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84465690 | G | GATTGATA others(18): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(45): Show | a0001c0001t0001g0334 a0001c0002t0001g0114 a0001c0003t0001g0003 others(154): Show |
157 | 430 | 0.3651 | 25 | c.*19 others(36): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1504 | chr16 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48890144 | A | AAAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02818.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(3): Show |
13 | 165 | 0.0788 | 25 | c.-27 others(36): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2642 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02559.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 3 | 10 | 0.3000 | 25 | c.*32 others(36): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 69 | 0.0290 | 25 | c.39+ others(38): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01192.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0000 a0001c0002t0005g0000 |
5 | 65 | 0.0769 | 25 | c.*12 others(36): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138727306 | A | ACAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 374 | 0.0027 | 25 | c.201 others(44): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0212 others(4): Show |
7 | 170 | 0.0412 | 25 | c.157 others(44): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(57): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0040 others(57): Show |
60 | 174 | 0.3448 | 25 | c.132 others(42): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138774655 | T | TATTATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0141 |
2 | 374 | 0.0053 | 25 | c.-17 others(42): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG03195.hp1 |
a0001a0002a0003 | a0001c0035a0002c0029a0003c0022 | a0001c0035t0004a0002c0029t0004a0003c0022t0004 | a0001c0035t0004g0155 a0002c0029t0004g0355 a0003c0022t0004g0243 |
3 | 46 | 0.0652 | 25 | c.114 others(42): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18940.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0171 others(1): Show |
4 | 18 | 0.2222 | 25 | c.295 others(42): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25531388 | A | ATATATGT others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0025others(5): Show | a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 others(5): Show |
8 | 117 | 0.0684 | 25 | c.420 others(40): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25744925 | T | TTTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0099 | 1 | 114 | 0.0088 | 25 | c.238 others(46): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |