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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPO_chr2_1408463_1548673 | 1538051 | CCTCAAAT others(79): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0003a0002c0002t0003a0002c0015t0003others(4): Show | a0001c0001t0003g0077 a0001c0001t0003g0128 a0002c0002t0003g0056 others(11): Show |
14 | 130 | 0.1077 | -86 | c.261 others(105): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140112308 | CGAGGAGA others(79): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 NA19240.hp1 others(1): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0002a0001c0005t0008a0001c0007t0002others(1): Show | a0001c0003t0002g0020 a0001c0005t0008g0076 a0001c0007t0002g0031 others(1): Show |
4 | 98 | 0.0408 | -86 | c.255 others(107): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TRIQK_chr8_92878534_92971144 | 92949667 | AGAAGGAA others(79): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show |
6 | 342 | 0.0175 | -86 | c.-22 others(103): Show |
TRIQK | ENSG00000205133.12 | transcript | ENST00000521988.6 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
TRIQK_chr8_92878534_92971144 | 92949696 | GAAAAGAG others(79): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG02129.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0112 |
3 | 342 | 0.0088 | -86 | c.-22 others(103): Show |
TRIQK | ENSG00000205133.12 | transcript | ENST00000521988.6 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028645 | CCCCATCA others(79): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02015.hp1 HG02630.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001a0004c0004t0003 | a0001c0001t0001g0050 a0001c0001t0001g0106 a0001c0001t0001g0122 others(2): Show |
5 | 224 | 0.0223 | -86 | c.225 others(105): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029320 | CCCCACAC others(79): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 224 | 0.0045 | -86 | c.225 others(105): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292037 | GTGTCCCT others(79): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 284 | 0.0035 | -86 | c.121 others(103): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292044 | TCCGTGTC others(79): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 284 | 0.0035 | -86 | c.121 others(103): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044483 | TGGGGGTG others(79): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042 a0001c0001t0003g0012 |
2 | 351 | 0.0057 | -86 | c.-50 others(97): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4915 | chr15 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33939786 | AAGGGGAG others(79): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 HG03540.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0260 a0002c0001t0003g0261 a0002c0001t0003g0262 others(1): Show |
4 | 356 | 0.0112 | -86 | c.192 others(105): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBE2G2_chr21_44763580_44806820 | 44764167 | ACACCCTG others(79): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(282): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(199): Show |
285 | 368 | 0.7745 | -86 | c.*71 others(97): Show |
UBE2G2 | ENSG00000184787.19 | transcript | ENST00000345496.7 | protein_coding | 4412 | chr21 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397512 | CCCCCACC others(79): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02027.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0017a0001c0003t0068others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0106 others(5): Show |
8 | 322 | 0.0248 | -86 | c.735 others(101): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397599 | CCCCCACC others(79): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0269 |
2 | 322 | 0.0062 | -86 | c.735 others(101): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114292183 | CGCGTACA others(79): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 450 | 0.0022 | -86 | c.846 others(101): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UQCRH_chr1_46298698_46321776 | 46318849 | GCAAAACC others(79): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 3 | 434 | 0.0069 | -86 | c.*22 others(97): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 2074 | chr1 | TogoVar | |||||||
USP47_chr11_11836972_11966887 | 11916933 | TGAACCCA others(79): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0009a0001c0005t0024 | a0001c0005t0009g0346 a0001c0005t0009g0347 a0001c0005t0009g0348 others(6): Show |
9 | 386 | 0.0233 | -86 | c.970 others(103): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP48_chr1_21673298_21788149 | 21685833 | TCAGCCTG others(79): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | 364 | 0.0165 | -86 | c.305 others(105): Show |
USP48 | ENSG00000090686.16 | transcript | ENST00000308271.14 | protein_coding | 25/26 | chr1 | TogoVar | |||||||
UTP25_chr1_209822972_209862565 | 209860192 | TAAAATGG others(79): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | -86 | c.*87 others(97): Show |
UTP25 | ENSG00000117597.18 | transcript | ENST00000491415.7 | protein_coding | 2628 | chr1 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573247 | GAAAGAAA others(79): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0250 a0001c0002t0007g0251 a0001c0002t0007g0262 |
3 | 388 | 0.0077 | -86 | c.273 others(103): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
WDFY4_chr10_48679873_48987956 | 48689967 | TTCCACCT others(79): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 202 | 0.0050 | -86 | c.-18 others(103): Show |
WDFY4 | ENSG00000128815.20 | transcript | ENST00000325239.12 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR27_chr6_169452212_169707029 | 169505467 | TCTCTATA others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(38): Show |
a0003a0009a0017others(3): Show | a0003c0002a0009c0038a0017c0048others(3): Show | a0003c0002t0003a0009c0038t0012a0017c0048t0008others(3): Show | a0003c0002t0003g0204 a0003c0002t0003g0208 a0003c0002t0003g0209 others(38): Show |
41 | 294 | 0.1395 | -86 | c.264 others(107): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 25/25 | chr6 | TogoVar | |||||||
WDR86_chr7_151376124_151415038 | 151405898 | GGCTGCCA others(79): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 458 | 0.0022 | -86 | c.163 others(103): Show |
WDR86 | ENSG00000187260.16 | transcript | ENST00000334493.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
XXYLT1_chr3_195063284_195276159 | 195110248 | GGGTGAAG others(79): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01261.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0024 a0001c0001t0001g0167 a0001c0001t0002g0025 others(22): Show |
25 | 198 | 0.1263 | -86 | c.786 others(105): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
ZBED1_chrX_2481435_2505976 | 2485771 | GGAAGGGA others(79): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0082 | 1 | 221 | 0.0045 | -86 | c.*27 others(97): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 663 | chrX | TogoVar | |||||||
ZDHHC2_chr8_17151482_17229799 | 17199568 | GTCTTTGT others(79): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(83): Show |
a0001a0002a0005 | a0001c0001a0002c0006a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0129 a0001c0001t0001g0181 a0001c0001t0001g0333 others(81): Show |
86 | 390 | 0.2205 | -86 | c.476 others(103): Show |
ZDHHC2 | ENSG00000104219.13 | transcript | ENST00000262096.13 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZFAT_chr8_134472788_134718031 | 134543057 | GTACAAAT others(79): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 274 | 0.0037 | -86 | c.297 others(107): Show |
ZFAT | ENSG00000066827.16 | transcript | ENST00000377838.8 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
ZFYVE16_chr5_80403064_80488379 | 80419087 | TTTTTTTT others(79): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 226 | 0.0044 | -86 | c.-93 others(103): Show |
ZFYVE16 | ENSG00000039319.17 | transcript | ENST00000505560.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40601488 | AGAAAGAG others(79): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 228 | 0.0044 | -86 | c.578 others(105): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40601623 | AAAGAAAG others(79): Show |
A | intron_variant | MODIFIER | HG00735.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0020 |
2 | 228 | 0.0088 | -86 | c.578 others(105): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZNF385B_chr2_179436982_179866612 | 179557523 | GTGTATGT others(79): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(110): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(110): Show |
113 | 118 | 0.9576 | -86 | c.299 others(105): Show |
ZNF385B | ENSG00000144331.20 | transcript | ENST00000410066.7 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
ZNF407_chr18_74592870_75070671 | 75067409 | CGCTGGAA others(79): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0010others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(39): Show | a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0063 others(68): Show |
71 | 92 | 0.7717 | -86 | c.*29 others(97): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1739 | chr18 | TogoVar | |||||||
ZNF440_chr19_11809273_11840216 | 11811898 | AAGAAAGA others(79): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02615.hp1 others(6): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0004a0003c0003t0014a0006c0007t0006others(1): Show | a0003c0003t0004g0032 a0003c0003t0004g0095 a0003c0003t0004g0108 others(5): Show |
9 | 376 | 0.0239 | -86 | c.-25 others(97): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2374 | chr19 | TogoVar | |||||||
ZNF491_chr19_11793523_11813503 | 11811898 | AAGAAAGA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0048 others(1): Show |
9 | 390 | 0.0231 | -86 | c.*46 others(97): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3396 | chr19 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965153 | AACGAGCC others(79): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 356 | 0.0084 | -86 | c.103 others(103): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF723_chr19_22827291_22863667 | 22862529 | TATAATAT others(79): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 a0002c0002t0001g0045 a0002c0002t0001g0046 |
3 | 364 | 0.0082 | -86 | c.*40 others(97): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3863 | chr19 | TogoVar | |||||||
ZNF888_chr19_52899415_52928428 | 52919096 | CTCCCTCT others(79): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03139.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0021a0002c0003t0011 | a0001c0004t0021g0204 a0002c0003t0011g0142 a0002c0003t0011g0368 |
3 | 426 | 0.0070 | -86 | c.-17 others(103): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZSCAN12_chr6_28379738_28404747 | 28382909 | GGCTAATA others(79): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00642.hp1 others(117): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(6): Show | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0017 others(42): Show |
120 | 432 | 0.2778 | -86 | c.*74 others(97): Show |
ZSCAN12 | ENSG00000158691.15 | transcript | ENST00000684592.1 | protein_coding | 1828 | chr6 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289823 | CCCCGTGT others(78): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 a0001c0002t0001g0093 |
2 | 295 | 0.0068 | -85 | c.*36 others(96): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2567 | chr1 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735732 | CGGGGCGG others(78): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 314 | 0.0032 | -85 | c.*63 others(96): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4144 | chr19 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54002731 | AACCTGTG others(78): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 a0001c0002t0002g0108 |
2 | 272 | 0.0074 | -85 | c.62+ others(102): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111171 | CGCCGTGA others(78): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02451.hp1 |
a0001 | a0001c0002a0001c0042 | a0001c0002t0001a0001c0002t0006a0001c0042t0035 | a0001c0002t0001g0176 a0001c0002t0006g0074 a0001c0042t0035g0221 |
3 | 368 | 0.0082 | -85 | c.401 others(102): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131020021 | CAGGGCAG others(78): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(124): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0156 others(124): Show |
127 | 242 | 0.5248 | -85 | c.147 others(104): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | chr12 | TogoVar | |||||||
ADH1B_chr4_99299971_99326401 | 99305501 | CATATATA others(78): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0007 | a0001c0007t0070 | a0001c0007t0070g0053 | 1 | 364 | 0.0028 | -85 | c.*22 others(96): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 9/9 | 2254 | chr4 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16790116 | AGTAGGGG others(78): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 a0001c0001t0005g0080 a0001c0001t0005g0081 others(5): Show |
9 | 460 | 0.0196 | -85 | c.*27 others(96): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1694 | chr7 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107880 | AGAAAGAA others(78): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0243 | 1 | 422 | 0.0024 | -85 | c.168 others(102): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ANKRD24_chr19_4177689_4229814 | 4228423 | CTCTCTGT others(78): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0004a0032 | a0004c0009a0032c0053 | a0004c0009t0001a0032c0053t0004 | a0004c0009t0001g0059 a0032c0053t0004g0255 |
2 | 356 | 0.0056 | -85 | c.*39 others(96): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 3610 | chr19 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5902750 | AGGGAGGG others(78): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0019 | 1 | 162 | 0.0062 | -85 | c.534 others(104): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ARHGAP10_chr4_147727088_148077776 | 147784746 | TATATATT others(78): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 106 | 0.0094 | -85 | c.155 others(104): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1849808 | CGTGGACA others(78): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001a0012 | a0001c0102a0012c0132 | a0001c0102t0072a0012c0132t0073 | a0001c0102t0072g0199 a0012c0132t0073g0342 |
2 | 363 | 0.0055 | -85 | c.37+ others(100): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1640775 | CTGTGTGT others(78): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA19030.hp2 |
a0001a0003 | a0001c0003a0003c0009 | a0001c0003t0002a0003c0009t0001 | a0001c0003t0002g0133 a0003c0009t0001g0011 |
2 | 223 | 0.0090 | -85 | c.911 others(102): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |