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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA6B_chr19_4537593_4564684 | 4561998 | CGGCCTCC others(1332): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 438 | 0.0023 | -1339 | c.-38 others(11): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 2315 | chr19 | TogoVar | |||||||
TRIM52_chr5_181250147_181266143 | 181253074 | TGCCCAGG others(1332): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0006g0009 others(25): Show |
114 | 408 | 0.2794 | -1339 | c.*23 others(11): Show |
TRIM52 | ENSG00000183718.6 | transcript | ENST00000688015.1 | protein_coding | 2072 | chr5 | TogoVar | |||||||
NAA60_chr16_3438680_3491953 | 3445281 | TTTTTTTT others(1331): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 374 | 0.0027 | -1338 | c.-77 others(17): Show |
NAA60 | ENSG00000122390.19 | transcript | ENST00000407558.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TXN2_chr22_36462046_36486640 | 36471705 | CTGCCTGT others(1331): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 338 | 0.0030 | -1338 | c.387 others(17): Show |
TXN2 | ENSG00000100348.10 | transcript | ENST00000216185.7 | protein_coding | 3/3 | chr22 | TogoVar | |||||||
ZNF597_chr16_3427414_3448504 | 3445281 | TTTTTTTT others(1331): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 2 | 408 | 0.0049 | -1338 | c.-33 others(11): Show |
ZNF597 | ENSG00000167981.7 | transcript | ENST00000301744.7 | protein_coding | 1778 | chr16 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161145013 | ATGCTGCC others(1330): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0057a0001c0001t0058 | a0001c0001t0051g0024 a0001c0001t0057g0171 a0001c0001t0058g0032 |
3 | 262 | 0.0115 | -1337 | c.843 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244516614 | TGAGTTCA others(1330): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0003g0189 a0002c0004t0001g0082 others(1): Show |
4 | 204 | 0.0196 | -1337 | c.430 others(16): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79920417 | TGGGGAGA others(1330): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0140 | 1 | 330 | 0.0030 | -1337 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
VCAN_chr5_83466744_83587302 | 83566057 | GGGTTAAG others(1330): Show |
G | intron_variant | MODIFIER | HG01123.hp2 | a0007 | a0007c0021 | a0007c0021t0004 | a0007c0021t0004g0091 | 1 | 348 | 0.0029 | -1337 | c.973 others(19): Show |
VCAN | ENSG00000038427.16 | transcript | ENST00000265077.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129855119 | GCTGCCCT others(1329): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0007a0001c0013t0017 | a0001c0001t0001g0015 a0001c0001t0007g0022 a0001c0013t0017g0021 |
3 | 92 | 0.0326 | -1336 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
ZNF506_chr19_19787711_19826750 | 19816630 | TTACAGGC others(1328): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0328 | 1 | 416 | 0.0024 | -1335 | c.3+3 others(13): Show |
ZNF506 | ENSG00000081665.14 | transcript | ENST00000540806.7 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18597101 | TAAAAGGA others(1326): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(182): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 others(182): Show |
185 | 226 | 0.8186 | -1333 | c.248 others(19): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292582 | TCCCGCGG others(1326): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0385 | 1 | 393 | 0.0025 | -1333 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1238916 | CCCCTCTC others(1323): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0091 | 1 | 105 | 0.0095 | -1330 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2279475 | GAGAGAGA others(1322): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 47 | 0.0213 | -1329 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9916853 | AGAGTACA others(1322): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0001t0005a0001c0012t0005 | a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 others(2): Show |
5 | 222 | 0.0225 | -1329 | c.186 others(21): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
DAD1_chr14_22559907_22594224 | 22583318 | AGAAAGGA others(1321): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0194 a0001c0001t0001g0199 others(1): Show |
4 | 384 | 0.0104 | -1328 | c.211 others(17): Show |
DAD1 | ENSG00000129562.11 | transcript | ENST00000250498.9 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32308199 | AACTCTTA others(1320): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG01361.hp2 others(18): Show |
a0001a0005a0006others(3): Show | a0001c0002a0001c0004a0001c0008others(10): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0005others(12): Show | a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0004t0001g0125 others(18): Show |
21 | 190 | 0.1105 | -1327 | c.393 others(16): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 3/5 | chr18 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105231296 | CGTGGCAC others(1319): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 65 | 0.0154 | -1326 | c.695 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21727194 | GAGTGCTG others(1319): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 |
a0003a0004 | a0003c0081a0004c0010 | a0003c0081t0002a0004c0010t0001 | a0003c0081t0002g0061 a0004c0010t0001g0062 |
2 | 296 | 0.0068 | -1326 | c.744 others(19): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592550 | GCTCCTCC others(1319): Show |
G | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 178 | 0.0056 | -1326 | c.638 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46615601 | GTAGGTTC others(1318): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0048 | a0001c0001t0015g0190 a0001c0001t0015g0191 a0001c0001t0048g0189 |
3 | 326 | 0.0092 | -1325 | c.-50 others(11): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 4784 | chr22 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686569 | TCCCCCGC others(1318): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0001 | a0001c0006t0001g0188 a0002c0002t0001g0022 a0002c0002t0001g0283 |
4 | 347 | 0.0115 | -1325 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1641029 | GTGTGATG others(1317): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 221 | 0.0045 | -1324 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137686873 | AAAAATAT others(1317): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0049 others(197): Show |
204 | 250 | 0.8160 | -1324 | c.526 others(17): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25450570 | CGCCCAGG others(1316): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0091 | 1 | 120 | 0.0083 | -1323 | c.77- others(17): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393444 | CGGGAAGG others(1316): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0257 | 1 | 338 | 0.0030 | -1323 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 321973 | GGGGCTCC others(1315): Show |
G | intron_variant | MODIFIER | NA18747.hp2 NA18970.hp1 NA19007.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0003t0002g0071 |
3 | 88 | 0.0341 | -1322 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
MCM3AP_chr21_46230133_46290611 | 46237437 | CTCTGTTG others(1315): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(131): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0004a0001c0005others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(14): Show | a0001c0002t0001g0043 a0001c0002t0002g0006 a0001c0002t0002g0017 others(124): Show |
134 | 358 | 0.3743 | -1322 | c.563 others(18): Show |
MCM3AP | ENSG00000160294.11 | transcript | ENST00000291688.6 | protein_coding | 26/27 | chr21 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137251591 | CATCAATA others(1315): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0001g0167 a0001c0001t0001g0168 others(3): Show |
6 | 294 | 0.0204 | -1322 | c.289 others(15): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
ZNF57_chr19_2895928_2923473 | 2909500 | TTGACGTC others(1315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(9): Show | a0001c0002t0001g0062 a0001c0002t0001g0193 a0001c0002t0001g0255 others(143): Show |
212 | 396 | 0.5354 | -1322 | c.4-6 others(13): Show |
ZNF57 | ENSG00000171970.14 | transcript | ENST00000306908.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IKBIP_chr12_98619249_98649788 | 98622861 | TAAGCAAA others(1314): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02630.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0011 | a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0123 others(3): Show |
8 | 412 | 0.0194 | -1321 | c.*17 others(11): Show |
IKBIP | ENSG00000166130.15 | transcript | ENST00000299157.5 | protein_coding | 1387 | chr12 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3716045 | CTGGGATT others(1314): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00621.hp2 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0009others(12): Show | a0001c0002t0001a0001c0005t0001a0001c0009t0001others(12): Show | a0001c0002t0001g0300 a0001c0002t0001g0309 a0001c0002t0001g0319 others(27): Show |
30 | 396 | 0.0758 | -1321 | c.-10 others(17): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1313): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 NA21309.hp2 |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0004 | a0001c0001t0005a0002c0009t0008a0003c0004t0003 | a0001c0001t0005g0009 a0002c0009t0008g0235 a0003c0004t0003g0127 |
3 | 188 | 0.0160 | -1320 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932509 | GGAATGAG others(1313): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0007 | a0004c0007t0056 | a0004c0007t0056g0210 | 1 | 361 | 0.0028 | -1320 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133222539 | GTGTGTGT others(1313): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show |
a0011 | a0011c0020a0011c0025 | a0011c0020t0002a0011c0025t0002 | a0011c0020t0002g0257 a0011c0020t0002g0258 a0011c0025t0002g0241 others(1): Show |
4 | 330 | 0.0121 | -1320 | c.501 others(18): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRSS57_chr19_680546_700452 | 698616 | GGAGATGG others(1312): Show |
G | upstream_gene_variant | MODIFIER | NA18948.hp1 NA18966.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 2 | 440 | 0.0045 | -1319 | c.-45 others(11): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3165 | chr19 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116865114 | GAAGCATT others(1312): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0277 |
2 | 364 | 0.0055 | -1319 | c.195 others(19): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 15/24 | chr11 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1638941 | ACATGAGG others(1311): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 219 | 0.0046 | -1318 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431818 | GTCTGGTC others(1311): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114 | 1 | 356 | 0.0028 | -1318 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2034291 | TAATCTCC others(1311): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0012t0013 | a0001c0002t0001g0089 a0001c0003t0001g0067 a0001c0012t0013g0005 |
3 | 102 | 0.0294 | -1318 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1372833 | GCACAGGG others(1311): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 318 | 0.0031 | -1318 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1372851 | TACACTGC others(1311): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 42 | 0.0238 | -1318 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
ATP6V0E1_chr5_172978771_173040445 | 172979059 | GGTGGCTC others(1310): Show |
G | upstream_gene_variant | MODIFIER | NA18975.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0084 |
2 | 292 | 0.0068 | -1317 | c.-48 others(11): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4711 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2278795 | AGAGAGAG others(1310): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 48 | 0.0208 | -1317 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(1309): Show |
G | intron_variant | MODIFIER | HG03540.hp1 NA21309.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0003t0001g0170 a0002c0002t0001g0075 |
3 | 213 | 0.0141 | -1316 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TF_chr3_133741393_133801641 | 133784922 | TAACAATA others(1309): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(126): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(63): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 others(104): Show |
129 | 400 | 0.3225 | -1316 | c.*63 others(11): Show |
TF | ENSG00000091513.16 | transcript | ENST00000402696.9 | protein_coding | 17/17 | 6319 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRIP13_chr5_887884_923120 | 898536 | GTCAGTGT others(1309): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0156 | 1 | 400 | 0.0025 | -1316 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1639446 | CGTGGGCA others(1308): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 220 | 0.0045 | -1315 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32765254 | GTTGCAGT others(1308): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(250): Show |
258 | 352 | 0.7330 | -1315 | c.200 others(18): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |