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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(280): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0246 a0001c0002t0005g0336 a0001c0002t0005g0337 others(1): Show |
4 | 24 | 0.1667 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(280): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02615.hp1 NA18982.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(3): Show | a0001c0001t0001g0281 a0001c0001t0025g0180 a0001c0002t0001g0133 others(3): Show |
6 | 26 | 0.2308 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(280): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03471.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0202 a0001c0001t0006g0031 others(3): Show |
6 | 26 | 0.2308 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(280): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 21 | 0.0476 | 287 | c.127 others(306): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGG others(280): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 136 | 0.0074 | 287 | c.464 others(300): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC others(280): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 227 | 0.0044 | 287 | c.166 others(304): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CCTATATA others(280): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0131 |
2 | 40 | 0.0500 | 287 | c.115 others(304): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7378215 | T | TGGATGGA others(280): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 26 | 0.0385 | 287 | c.100 others(304): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7378215 | T | TGGATGGA others(280): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp1 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0012 a0001c0001t0001g0083 a0001c0001t0001g0103 others(37): Show |
40 | 65 | 0.6154 | 287 | c.100 others(304): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2773881 | A | ACGGCCAC others(280): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 213 | 0.0047 | 287 | c.-23 others(304): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401197 | C | CGCCCCGC others(280): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 226 | 0.0044 | 287 | c.*46 others(298): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4518 | chr11 | TogoVar | |||||||
SLC22A12_chr11_64586220_64607344 | 64596249 | T | TGGATGGA others(280): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 218 | 0.0046 | 287 | c.831 others(304): Show |
SLC22A12 | ENSG00000197891.12 | transcript | ENST00000377574.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC26A5_chr7_103369207_103451207 | 103402580 | T | TAATAGAG others(280): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 340 | 0.0029 | 287 | c.889 others(304): Show |
SLC26A5 | ENSG00000170615.16 | transcript | ENST00000306312.8 | protein_coding | 8/19 | chr7 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 118071064 | G | GTATATAT others(280): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0002 a0001c0001t0005g0141 |
2 | 53 | 0.0377 | 287 | c.174 others(306): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 118071064 | G | GTGTATAT others(280): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 others(26): Show |
29 | 80 | 0.3625 | 287 | c.174 others(306): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 118304985 | C | CAGTCAAA others(280): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0047 | a0001c0001t0032g0118 a0001c0001t0047g0109 |
2 | 71 | 0.0282 | 287 | c.100 others(306): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92143422 | A | ATTATATA others(280): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0143 a0001c0001t0006g0157 |
2 | 162 | 0.0123 | 287 | c.151 others(306): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246324984 | C | CGGGGGGG others(280): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0108 | 1 | 132 | 0.0076 | 287 | c.531 others(304): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(280): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081 | 1 | 129 | 0.0078 | 287 | c.-13 others(304): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOX11_chr2_5687384_5706385 | 5706297 | G | GGGAGGCT others(280): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0180 | a0001c0001t0180g0000 | 1 | 430 | 0.0023 | 287 | c.*12 others(300): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4913 | chr2 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(280): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0134 | 1 | 6 | 0.1667 | 287 | c.138 others(306): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(280): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0039 | 1 | 44 | 0.0227 | 287 | c.190 others(306): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(280): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 44 | 0.0227 | 287 | c.190 others(306): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(280): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0060 |
2 | 45 | 0.0444 | 287 | c.190 others(306): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(280): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01981.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 others(5): Show |
8 | 51 | 0.1569 | 287 | c.190 others(306): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109065 | T | TATATTTA others(280): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 44 | 0.0227 | 287 | c.190 others(306): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637648 | T | TTATAATA others(280): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 256 | 0.0039 | 287 | c.*74 others(298): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4114 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(280): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 9 | 0.1111 | 287 | c.*75 others(298): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32572436 | T | TTCCCTCC others(280): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0143 | 1 | 87 | 0.0115 | 287 | c.774 others(306): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYNPO_chr5_150635660_150664207 | 150652969 | G | GTTGAGGT others(280): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 388 | 0.0026 | 287 | c.202 others(306): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46939060 | G | GGAGACAC others(280): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044 | 1 | 94 | 0.0106 | 287 | c.101 others(308): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF12_chr15_56913644_57294853 | 57075853 | T | TTCTTTCT others(280): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 327 | 0.0031 | 287 | c.222 others(306): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884721 | G | GCCCCTCT others(280): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 265 | 0.0038 | 287 | c.429 others(300): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89907819 | C | CCCAGCTC others(280): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03471.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0261 a0002c0003t0001g0053 a0002c0003t0001g0054 |
3 | 222 | 0.0135 | 287 | c.179 others(304): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89907833 | C | CCCAGCTC others(280): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 2 | 0.5000 | 287 | c.179 others(304): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272985 | C | CCGATCGC others(280): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0136 |
2 | 83 | 0.0241 | 287 | c.228 others(304): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TGM6_chr20_2375901_2437753 | 2391072 | A | AGTGATCT others(280): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01106.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0179 others(11): Show |
14 | 403 | 0.0347 | 287 | c.8-3 others(300): Show |
TGM6 | ENSG00000166948.10 | transcript | ENST00000202625.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
THOP1_chr19_2780503_2820807 | 2818063 | A | ACCAAGGA others(280): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0037 a0001c0002t0006g0154 |
3 | 362 | 0.0083 | 287 | c.*47 others(298): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 2257 | chr19 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19034434 | T | TAAAAATA others(280): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0012 | a0004c0012t0032 | a0004c0012t0032g0189 | 1 | 279 | 0.0036 | 287 | c.858 others(304): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37097657 | G | GCGGCCAC others(280): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0329 | 1 | 343 | 0.0029 | 287 | c.336 others(302): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097701 | T | TTGTAACG others(280): Show |
intron_variant | MODIFIER | HG02056.hp2 HG04199.hp1 NA18995.hp2 |
a0001a0003 | a0001c0005a0003c0002a0003c0052 | a0001c0005t0001a0003c0002t0001a0003c0052t0001 | a0001c0005t0001g0250 a0003c0002t0001g0292 a0003c0052t0001g0235 |
3 | 308 | 0.0097 | 287 | c.336 others(302): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097911 | A | AGGGCCAC others(280): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01261.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011 | 2 | 181 | 0.0110 | 287 | c.336 others(302): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTCCCT others(280): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0063 | 1 | 3 | 0.3333 | 287 | c.215 others(304): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTCCCT others(280): Show |
intron_variant | MODIFIER | HG00280.hp1 HG04184.hp2 NA20752.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001 | a0001c0001t0001g0038 a0001c0001t0001g0054 a0002c0002t0001g0069 others(1): Show |
4 | 6 | 0.6667 | 287 | c.215 others(304): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(280): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 97 | 0.0103 | 287 | c.612 others(302): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | |||||||
TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(280): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 97 | 0.0103 | 287 | c.612 others(302): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144780558 | T | TATATTAT others(280): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 80 | 0.0125 | 287 | c.44- others(304): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TPSB2_chr16_1223336_1235184 | 1231493 | G | GCTCCCCA others(280): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0013 | 1 | 324 | 0.0031 | 287 | c.-13 others(298): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 1310 | chr16 | TogoVar | |||||||
TPSB2_chr16_1223336_1235184 | 1231493 | G | GCTCCCCA others(280): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 324 | 0.0031 | 287 | c.-13 others(298): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 1310 | chr16 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188151385 | G | GGGAGTGA others(280): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0096 | 1 | 225 | 0.0044 | 287 | c.*40 others(298): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 3643 | chr4 | TogoVar |