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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTP4A3_chr8_141387021_141437454 | 141429798 | A | GCAGGGTG others(452): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02155.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0114 a0001c0001t0005g0118 a0001c0001t0005g0119 others(3): Show |
6 | 323 | 0.0186 | 459 | c.405 others(476): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429798 | A | GCAGGGTG others(452): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0182 | 1 | 323 | 0.0031 | 459 | c.405 others(476): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429798 | A | GCAGGGTG others(452): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 323 | 0.0031 | 459 | c.405 others(476): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429798 | A | GCAGGGTG others(452): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 323 | 0.0031 | 459 | c.405 others(476): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429838 | A | AGGTGGCG others(452): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0157 | 1 | 323 | 0.0031 | 459 | c.405 others(476): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141429889 | A | AGGTGGCG others(452): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0053 | 1 | 323 | 0.0031 | 459 | c.405 others(474): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141429976 | C | CCCGCTGT others(452): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 323 | 0.0031 | 459 | c.405 others(474): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141430013 | G | GCACAGTC others(452): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 323 | 0.0031 | 459 | c.405 others(474): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141430013 | G | GCACAGTC others(452): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 323 | 0.0031 | 459 | c.405 others(474): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(452): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 374 | 0.0027 | 459 | c.-46 others(470): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(452): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 295 | 0.0034 | 459 | c.126 others(478): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205985737 | C | CCCCACCA others(452): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 330 | 0.0030 | 459 | c.397 others(472): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RAB7B_chr1_205971740_206008395 | 205985737 | C | CCCCACCA others(452): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0289 | 1 | 330 | 0.0030 | 459 | c.397 others(472): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RAB7B_chr1_205971740_206008395 | 205985782 | C | CCCCACCA others(452): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 330 | 0.0030 | 459 | c.397 others(474): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2831041 | C | CCCCTTCC others(452): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0204 | 1 | 218 | 0.0046 | 459 | c.80+ others(476): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CCCCTCCT others(452): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01071.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0009a0001c0001t0050a0001c0001t0134others(24): Show | a0001c0001t0009g0004 a0001c0001t0050g0121 a0001c0001t0134g0067 others(26): Show |
29 | 218 | 0.1330 | 459 | c.80+ others(476): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | chr17 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CCCCTCCT others(452): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0135 | a0001c0002t0135g0152 | 1 | 218 | 0.0046 | 459 | c.80+ others(476): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | chr17 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(452): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0011 | a0002c0011t0007 | a0002c0011t0007g0148 | 1 | 218 | 0.0046 | 459 | c.80+ others(476): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106466507 | C | CGTCGGGA others(452): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0145 | 1 | 382 | 0.0026 | 459 | c.72+ others(474): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794584 | G | GGGGGGGA others(452): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0006 | a0006c0016 | a0006c0016t0002 | a0006c0016t0002g0025 | 1 | 40 | 0.0250 | 459 | c.72+ others(470): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669019 | C | CTCCCTCT others(452): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0046 a0002c0002t0004g0210 |
2 | 262 | 0.0076 | 459 | c.249 others(478): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971637 | A | AGCTGAGG others(452): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19070.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193 a0001c0003t0002g0194 |
2 | 384 | 0.0052 | 459 | c.157 others(478): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976110 | G | GTAGAGGG others(452): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0037 | 1 | 116 | 0.0086 | 459 | c.199 others(478): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976187 | A | AGGGTCCC others(452): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0046 | a0001c0046t0022 | a0001c0046t0022g0091 | 1 | 116 | 0.0086 | 459 | c.199 others(478): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(452): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0010 | a0010c0082 | a0010c0082t0001 | a0010c0082t0001g0076 | 1 | 116 | 0.0086 | 459 | c.199 others(478): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101439806 | C | CGTCCGGG others(452): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01496.hp2 HG01993.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0007 a0002c0002t0003g0028 a0002c0002t0003g0038 others(6): Show |
9 | 370 | 0.0243 | 459 | c.284 others(478): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101439806 | C | CGTCCGGG others(452): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19003.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0042 a0002c0002t0003g0362 |
2 | 370 | 0.0054 | 459 | c.284 others(478): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098676 | G | GCCCCCCT others(452): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0104 | 1 | 118 | 0.0085 | 459 | c.125 others(476): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827348 | A | AACATATA others(452): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 302 | 0.0033 | 459 | c.12+ others(474): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827544 | T | TTATAGTT others(452): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0021 a0002c0002t0008g0022 |
2 | 302 | 0.0066 | 459 | c.12+ others(474): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPACA6_chr19_51688330_51710190 | 51704885 | A | AGCCCCTC others(452): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02559.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0032 | 2 | 416 | 0.0048 | 459 | c.942 others(474): Show |
SPACA6 | ENSG00000182310.16 | transcript | ENST00000637797.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190054 | T | TAATGATA others(452): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0146 | 1 | 356 | 0.0028 | 459 | c.-11 others(480): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642043 | G | GGGGGGCC others(452): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 422 | 0.0024 | 459 | c.*66 others(470): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4571 | chr20 | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 79139070 | T | TAAATATA others(452): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0002t0045 | a0001c0001t0042g0048 a0001c0002t0045g0059 |
2 | 94 | 0.0213 | 459 | c.-66 others(476): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242951 | C | CCCACCGC others(452): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0106 | 1 | 396 | 0.0025 | 459 | c.695 others(474): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242951 | C | CCCACCGC others(452): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 396 | 0.0025 | 459 | c.695 others(474): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113816252 | G | GGGGAGAC others(452): Show |
3_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0192 | 1 | 260 | 0.0039 | 459 | c.*43 others(470): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 4355 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0068 | 1 | 132 | 0.0076 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0006 | a0002c0006t0048 | a0002c0006t0048g0007 | 1 | 132 | 0.0076 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03540.hp2 others(1): Show |
a0001a0007 | a0001c0003a0001c0010a0001c0016others(1): Show | a0001c0003t0008a0001c0010t0012a0001c0016t0046others(1): Show | a0001c0003t0008g0114 a0001c0010t0012g0090 a0001c0016t0046g0100 others(1): Show |
4 | 132 | 0.0303 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0005others(37): Show | a0001c0002t0001a0001c0002t0021a0001c0002t0022others(76): Show | a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 others(114): Show |
117 | 132 | 0.8864 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0132 | 1 | 132 | 0.0076 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TNR_chr1_175310194_175748595 | 175650717 | C | CCACCTCA others(452): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0005 | a0005c0011 | a0005c0011t0015 | a0005c0011t0015g0032 | 1 | 132 | 0.0076 | 459 | c.-16 others(480): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(452): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 224 | 0.0045 | 459 | c.102 others(478): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930695 | T | TGGGGTTA others(452): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0141 | 1 | 466 | 0.0022 | 459 | c.*48 others(470): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4674 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(452): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 466 | 0.0022 | 459 | c.*47 others(470): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(452): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 a0001c0001t0003g0076 |
2 | 388 | 0.0052 | 459 | c.-23 others(476): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347373 | C | CTGGACCA others(452): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 198 | 0.0051 | 459 | c.204 others(480): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UBE2D2_chr5_139556339_139633434 | 139631129 | T | TTTTTTTT others(452): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0101 |
2 | 226 | 0.0089 | 459 | c.*43 others(470): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 2696 | chr5 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370540 | C | CGTGTGTA others(452): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0405 | 1 | 468 | 0.0021 | 459 | c.-6- others(474): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |