| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPTOR_chr17_80539838_80971368 | 80963541 | C | CTGCGGCC others(430): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0074 | a0001c0005t0074g0008 | 1 | 196 | 0.0051 | 437 | c.393 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963541 | C | CTGCGGCC others(430): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01934.hp1 |
a0001 | a0001c0003a0001c0025 | a0001c0003t0013a0001c0003t0014a0001c0025t0052 | a0001c0003t0013g0043 a0001c0003t0014g0102 a0001c0025t0052g0181 |
3 | 196 | 0.0153 | 437 | c.393 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963541 | C | CTGCGGCC others(430): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19088.hp1 |
a0001 | a0001c0003a0001c0058 | a0001c0003t0004a0001c0058t0004 | a0001c0003t0004g0119 a0001c0058t0004g0156 |
2 | 196 | 0.0102 | 437 | c.393 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963656 | C | CTGCGGCC others(430): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0033 | a0001c0033t0023 | a0001c0033t0023g0075 | 1 | 196 | 0.0051 | 437 | c.394 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(430): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0025 | a0001c0025t0051 | a0001c0025t0051g0174 | 1 | 196 | 0.0051 | 437 | c.394 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(430): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0031 | a0001c0031t0011 | a0001c0031t0011g0073 | 1 | 196 | 0.0051 | 437 | c.394 others(454): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TATAATAT others(430): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 188 | 0.0053 | 437 | c.193 others(456): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SCAMP1_chr5_78355617_78485739 | 78430042 | T | TTACAGTA others(430): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 332 | 0.0030 | 437 | c.632 others(454): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289848 | T | TCTCTGCT others(430): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0018 | a0018c0029 | a0018c0029t0001 | a0018c0029t0001g0048 | 1 | 290 | 0.0035 | 437 | c.166 others(454): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401787 | C | CCCGCTCA others(430): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0135 |
2 | 242 | 0.0083 | 437 | c.*41 others(448): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3928 | chr11 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(430): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 346 | 0.0029 | 437 | c.-70 others(454): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(430): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | 218 | 0.0092 | 437 | c.212 others(456): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(430): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 150 | 0.0067 | 437 | c.107 others(458): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(430): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 150 | 0.0067 | 437 | c.107 others(458): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(430): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0051 |
2 | 150 | 0.0133 | 437 | c.107 others(458): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798399 | C | CACACCAC others(430): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 150 | 0.0067 | 437 | c.107 others(458): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 246232860 | C | CTCAATTC others(430): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 150 | 0.0067 | 437 | c.531 others(456): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(430): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 302 | 0.0033 | 437 | c.12+ others(452): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
| SRXN1_chr20_641615_658200 | 642169 | G | GGGCCCAG others(430): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0147 | 1 | 422 | 0.0024 | 437 | c.*65 others(448): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4445 | chr20 | TogoVar | |||||||
| ST6GALNAC6_chr9_127880321_127904603 | 127882566 | G | GGAAAGGA others(430): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 360 | 0.0028 | 437 | c.*40 others(448): Show |
ST6GALNAC6 | ENSG00000160408.16 | transcript | ENST00000373146.6 | protein_coding | 2754 | chr9 | TogoVar | |||||||
| STXBP6_chr14_24804454_25055147 | 25017699 | C | CAGGAGTG others(430): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0242 | 1 | 242 | 0.0041 | 437 | c.-33 others(456): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637473 | T | TTATATAT others(430): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 268 | 0.0037 | 437 | c.*73 others(448): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
| TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(430): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0054 a0001c0001t0003g0121 a0001c0001t0011g0055 |
3 | 258 | 0.0116 | 437 | c.113 others(456): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TIMM22_chr17_992129_1008671 | 993888 | C | CTCACATA others(430): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 439 | 0.0023 | 437 | c.-32 others(448): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3240 | chr17 | TogoVar | |||||||
| TNFRSF18_chr1_1198508_1211592 | 1202364 | G | GAGCCCAG others(430): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03225.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0013 |
3 | 386 | 0.0078 | 437 | c.*14 others(448): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1143 | chr1 | TogoVar | |||||||
| TTLL10_chr1_1168880_1202936 | 1202364 | G | GAGCCCAG others(430): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 NA20129.hp2 |
a0003a0012 | a0003c0006a0012c0018 | a0003c0006t0004a0012c0018t0002 | a0003c0006t0004g0038 a0012c0018t0002g0040 |
2 | 382 | 0.0052 | 437 | c.*45 others(448): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4429 | chr1 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238870460 | A | ACACCCCA others(430): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 338 | 0.0030 | 437 | c.*35 others(456): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(430): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 204 | 0.0049 | 437 | c.213 others(456): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
| UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(430): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0013 | a0003c0013t0009 | a0003c0013t0009g0070 | 1 | 204 | 0.0049 | 437 | c.213 others(456): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
| USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(430): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 396 | 0.0025 | 437 | c.*40 others(448): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
| USP37_chr2_218445251_218573351 | 218557668 | G | GCTGTAAT others(430): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0163 others(7): Show |
10 | 282 | 0.0355 | 437 | c.156 others(452): Show |
USP37 | ENSG00000135913.11 | transcript | ENST00000258399.8 | protein_coding | 4/25 | chr2 | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8467213 | G | GGGGAGGG others(430): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0009 | a0009c0009 | a0009c0009t0007 | a0009c0009t0007g0008 | 1 | 271 | 0.0037 | 437 | c.*83 others(446): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 704 | chrX | TogoVar | |||||||
| WDR64_chr1_241647281_241807777 | 241675073 | G | GCCTCCCT others(430): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0307 |
2 | 326 | 0.0061 | 437 | c.483 others(452): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCTTC others(430): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 246 | 0.0041 | 437 | c.-10 others(454): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ZFPM1_chr16_88448280_88542031 | 88461009 | G | GAGGGGCG others(430): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 318 | 0.0031 | 437 | c.40+ others(452): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(430): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 350 | 0.0057 | 437 | c.-36 others(448): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(431): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0249 | 1 | 306 | 0.0033 | 438 | c.130 others(457): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(431): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 306 | 0.0033 | 438 | c.130 others(457): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870977 | A | AAGAGAAA others(431): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 376 | 0.0027 | 438 | c.-11 others(449): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1075 | chr14 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870981 | A | AAGAAAGA others(431): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 376 | 0.0027 | 438 | c.-11 others(449): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1071 | chr14 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1288627 | C | CCGTGTCT others(431): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 295 | 0.0034 | 438 | c.*49 others(449): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3763 | chr1 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1288793 | C | CCGTGTCT others(431): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 295 | 0.0034 | 438 | c.*47 others(449): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3597 | chr1 | TogoVar | |||||||
| ACOT11_chr1_54543228_54615329 | 54561736 | A | ACCCCCCA others(431): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0081 | 1 | 388 | 0.0026 | 438 | c.33+ others(455): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(431): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0009 | a0009c0051 | a0009c0051t0002 | a0009c0051t0002g0259 | 1 | 354 | 0.0028 | 438 | c.523 others(457): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ADGRD1_chr12_130948907_131146469 | 131046300 | G | GTGCTCCC others(431): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 242 | 0.0041 | 438 | c.147 others(459): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ADGRE3_chr19_14614117_14679844 | 14620403 | T | TATATATG others(431): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0018 a0012c0013t0001g0019 |
2 | 372 | 0.0054 | 438 | c.192 others(455): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/15 | chr19 | TogoVar | |||||||
| AFF2_chrX_148495617_149005663 | 148581280 | G | GTATACGT others(431): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0060 | 1 | 169 | 0.0059 | 438 | c.48- others(455): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148581415 | T | TATATACA others(431): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0023 | 1 | 169 | 0.0059 | 438 | c.48- others(455): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(431): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0009 | 1 | 268 | 0.0037 | 438 | c.-36 others(449): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(431): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01070.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0161 a0001c0001t0002g0206 a0001c0001t0003g0072 others(31): Show |
34 | 268 | 0.1269 | 438 | c.-36 others(449): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar |