| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC2A5_chr1_9030106_9074635 | 9053368 | T | TTATATAT others(225): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 336 | 0.0030 | 232 | c.293 others(249): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
| SLC8A1_chr2_40092270_40457090 | 40200207 | A | AATATATA others(225): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0198 | 1 | 236 | 0.0042 | 232 | c.180 others(253): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
| SLC9A9_chr3_143260222_143853468 | 143449349 | T | TATATTAT others(225): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 108 | 0.0093 | 232 | c.146 others(253): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
| SLC9A9_chr3_143260222_143853468 | 143449349 | T | TATATTAT others(225): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0046a0001c0002t0008g0039 | 2 | 108 | 0.0185 | 232 | c.146 others(253): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
| SLC9A9_chr3_143260222_143853468 | 143449381 | A | ATTATATA others(225): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0021 | 1 | 108 | 0.0093 | 232 | c.146 others(253): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
| SMIM36_chr17_55444856_55516452 | 55501220 | A | ATTATATT others(225): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03704.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0222a0001c0001t0003g0223a0001c0001t0004g0169 | 3 | 340 | 0.0088 | 232 | c.*17 others(251): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168614311 | A | AGCACAGG others(225): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 180 | 0.0056 | 232 | c.907 others(249): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SNX29_chr16_11971734_12579287 | 12380952 | C | CCCACCAT others(225): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0067 | a0001c0001t0002g0081a0001c0002t0067g0059 | 2 | 176 | 0.0114 | 232 | c.190 others(253): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SNX6_chr14_34556093_34635148 | 34557531 | T | TCTTCTTC others(225): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 322 | 0.0031 | 232 | c.*55 others(243): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
| SORCS2_chr4_7187538_7747827 | 7448913 | T | TCCCTCCC others(225): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0045 | a0005c0045t0001 | a0005c0045t0001g0148 | 1 | 168 | 0.0060 | 232 | c.548 others(251): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
| SORCS2_chr4_7187538_7747827 | 7449217 | T | TCCTCCCT others(225): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 | 1 | 168 | 0.0060 | 232 | c.548 others(251): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(225): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0017 | a0001c0017t0016 | a0001c0017t0016g0124 | 1 | 168 | 0.0060 | 232 | c.548 others(251): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(225): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0019 | 1 | 168 | 0.0060 | 232 | c.548 others(251): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SORCS3_chr10_104636290_105270242 | 104696219 | C | CATATAAT others(225): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0082a0001c0001t0002g0083a0001c0006t0001g0077 | 3 | 134 | 0.0224 | 232 | c.627 others(251): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SPATA13_chr13_24155720_24312069 | 24190020 | C | CATAATGA others(225): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03669.hp1 HG03688.hp2 |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0006a0001c0005t0046a0001c0006t0013 | a0001c0001t0006g0321a0001c0005t0046g0216a0001c0006t0013g0212 | 3 | 356 | 0.0084 | 232 | c.-11 others(253): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(225): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 260 | 0.0039 | 232 | c.138 others(251): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(225): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 260 | 0.0039 | 232 | c.138 others(251): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
| SPTSSA_chr14_34427788_34467240 | 34443514 | T | TGTGTGTG others(225): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0324 | 1 | 344 | 0.0029 | 232 | c.113 others(249): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637340 | A | ATATATAA others(225): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 268 | 0.0037 | 232 | c.*71 others(243): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3806 | chr10 | TogoVar | |||||||
| SV2C_chr5_76078383_76338956 | 76172288 | T | TGGGGGGG others(225): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0203 | 1 | 234 | 0.0043 | 232 | c.581 others(251): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SVEP1_chr9_110360248_110584741 | 110390315 | G | GTATATAT others(225): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0070 | a0070c0083 | a0070c0083t0001 | a0070c0083t0001g0201 | 1 | 362 | 0.0028 | 232 | c.982 others(249): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
| SVEP1_chr9_110360248_110584741 | 110390336 | C | CTTATATA others(225): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0076 | a0076c0088 | a0076c0088t0004 | a0076c0088t0004g0069 | 1 | 362 | 0.0028 | 232 | c.982 others(249): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48679142 | C | CCTGGCTC others(225): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02155.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0059a0001c0001t0001g0114a0001c0001t0001g0214others(1): Show | 4 | 258 | 0.0155 | 232 | c.263 others(251): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48679142 | C | CCTGGCTC others(225): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 258 | 0.0039 | 232 | c.263 others(251): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TCF12_chr15_56913644_57294853 | 57075835 | T | TTTTCTTT others(225): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19062.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0027 | 2 | 330 | 0.0061 | 232 | c.222 others(251): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| TCN2_chr22_30602174_30632271 | 30623921 | T | TATACACA others(225): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 466 | 0.0022 | 232 | c.122 others(249): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TENM2_chr5_166974029_168269157 | 167515622 | T | TATATATG others(225): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03453.hp2 |
a0001 | a0001c0022a0001c0023a0001c0029 | a0001c0022t0021a0001c0023t0008a0001c0029t0003 | a0001c0022t0021g0024a0001c0023t0008g0004a0001c0029t0003g0019 | 3 | 54 | 0.0556 | 232 | c.502 others(253): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376716 | G | GTGTGCCC others(225): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0011 | a0011c0018 | a0011c0018t0003 | a0011c0018t0003g0356 | 1 | 370 | 0.0027 | 232 | c.-74 others(241): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 691 | chr19 | TogoVar | |||||||
| THEG_chr19_356747_381026 | 377417 | C | CTCTGTGC others(225): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 370 | 0.0027 | 232 | c.-14 others(243): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747593 | G | GCTGGGGT others(225): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0032 | 1 | 314 | 0.0032 | 232 | c.189 others(247): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMEM232_chr5_110414496_110731671 | 110610240 | A | AAGGAAGG others(225): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0012 | a0012c0018 | a0012c0018t0004 | a0012c0018t0004g0211 | 1 | 250 | 0.0040 | 232 | c.903 others(249): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
| TMEM65_chr8_124301189_124377701 | 124302548 | T | TATATTCT others(225): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02056.hp2 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291a0001c0001t0005g0292a0001c0001t0005g0293others(1): Show | 4 | 348 | 0.0115 | 232 | c.*11 others(245): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3640 | chr8 | TogoVar | |||||||
| TMPRSS13_chr11_117895641_117934402 | 117926048 | G | GCACACCT others(225): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0016a0003c0020others(2): Show | a0001c0001t0001a0001c0001t0028a0001c0016t0022others(3): Show | a0001c0001t0001g0372a0001c0001t0028g0373a0001c0016t0022g0369others(3): Show | 6 | 462 | 0.0130 | 232 | c.21+ others(247): Show |
TMPRSS13 | ENSG00000137747.16 | transcript | ENST00000524993.6 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
| TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTCTCC others(225): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 114 | 0.0088 | 232 | c.215 others(249): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TMTC2_chr12_82681906_83139866 | 82876048 | G | GTGGTGGT others(225): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0017 | 1 | 96 | 0.0104 | 232 | c.654 others(251): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMTC2_chr12_82681906_83139866 | 82876048 | G | GTGGTGGT others(225): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0006 | 1 | 96 | 0.0104 | 232 | c.654 others(251): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TMTC2_chr12_82681906_83139866 | 82997352 | A | ATATATAT others(225): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 96 | 0.0104 | 232 | c.207 others(253): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930760 | G | GTTAGGGA others(225): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 466 | 0.0022 | 232 | c.*48 others(243): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4609 | chr11 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930906 | G | GCTGGGGG others(225): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 466 | 0.0022 | 232 | c.*46 others(243): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4463 | chr11 | TogoVar | |||||||
| TPSD1_chr16_1251069_1264008 | 1255003 | T | TAGTCCAT others(225): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0008 | a0001c0008t0050 | a0001c0008t0050g0001 | 1 | 270 | 0.0037 | 232 | c.-12 others(243): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1065 | chr16 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507555 | G | GTGTACAC others(225): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0089 | 1 | 388 | 0.0026 | 232 | c.-23 others(249): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATACGT others(225): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0293 | 1 | 388 | 0.0026 | 232 | c.-23 others(249): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(225): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 388 | 0.0026 | 232 | c.-23 others(249): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(225): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0059 | a0001c0001t0055g0229a0001c0001t0059g0230 | 2 | 388 | 0.0052 | 232 | c.-23 others(249): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507587 | G | GTGTATAC others(225): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 388 | 0.0052 | 232 | c.-23 others(249): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRIM28_chr19_58539064_58555715 | 58541463 | C | CACCCTGC others(225): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 402 | 0.0025 | 232 | c.-32 others(243): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 2600 | chr19 | TogoVar | |||||||
| TRPC6_chr11_101446564_101589007 | 101558204 | T | TGTATACA others(225): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 | 1 | 252 | 0.0040 | 232 | c.170 others(251): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
| UBE4A_chr11_118354600_118404211 | 118355852 | C | CACATATG others(225): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 320 | 0.0031 | 232 | c.-38 others(243): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3747 | chr11 | TogoVar | |||||||
| UCN3_chr10_5359966_5379692 | 5370029 | A | ATGTGTGT others(225): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 468 | 0.0021 | 232 | c.-6- others(247): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(225): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0038 | 1 | 408 | 0.0025 | 232 | c.53+ others(247): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |