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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SF3A2_chr19_2231824_2253655 | 2242099 | GGCCACTG others(35): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0064 a0001c0001t0001g0177 a0001c0001t0002g0008 others(2): Show |
10 | 418 | 0.0239 | -42 | c.-37 others(59): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SF3A2_chr19_2231824_2253655 | 2242185 | CCACTGTG others(35): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0176 |
2 | 418 | 0.0048 | -42 | c.-37 others(59): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28564601 | ATGTGTAT others(35): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 344 | 0.0029 | -42 | c.-16 others(61): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01981.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0004g0009 others(9): Show |
12 | 22 | 0.5455 | -42 | c.-23 others(63): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222556549 | CCTCACTC others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0024a0001c0003t0039a0001c0003t0040 | a0001c0003t0024g0160 a0001c0003t0024g0237 a0001c0003t0039g0205 others(1): Show |
4 | 270 | 0.0148 | -42 | c.649 others(59): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151150224 | TATATACA others(35): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 280 | 0.0036 | -42 | c.175 others(59): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103810910 | ACACACAC others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0030others(36): Show | a0001c0001t0004g0020 a0001c0001t0014g0154 a0001c0001t0030g0023 others(43): Show |
46 | 248 | 0.1855 | -42 | c.73- others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 422033 | TGAGACCC others(35): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(127): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0058 others(124): Show |
130 | 210 | 0.6190 | -42 | c.162 others(58): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 11/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 458757 | CGGGGAGG others(35): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 210 | 0.0048 | -42 | c.468 others(59): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182927050 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 HG01884.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0003t0001a0003c0006t0001 | a0001c0001t0001g0216 a0001c0003t0001g0065 a0001c0003t0001g0112 others(10): Show |
13 | 21 | 0.6190 | -42 | c.118 others(61): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11526880 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0048 | a0001c0001t0004g0067 a0001c0009t0048g0188 |
2 | 7 | 0.2857 | -42 | c.896 others(61): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943306 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0137 | 1 | 208 | 0.0048 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943310 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0005 | a0001c0001t0001g0031 a0001c0001t0001g0093 a0001c0001t0002g0177 others(1): Show |
4 | 143 | 0.0280 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943316 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0101 | 1 | 204 | 0.0049 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44266536 | GTGTGTGT others(35): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0065a0001c0003t0011a0001c0003t0023others(2): Show | a0001c0002t0065g0247 a0001c0003t0011g0140 a0001c0003t0023g0031 others(2): Show |
5 | 378 | 0.0132 | -42 | c.600 others(61): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117056536 | GATAGATA others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01099.hp2 others(37): Show |
a0001a0002a0015others(1): Show | a0001c0002a0001c0026a0002c0004others(2): Show | a0001c0002t0002a0001c0002t0024a0001c0026t0002others(3): Show | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(37): Show |
40 | 101 | 0.3960 | -42 | c.273 others(61): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100383529 | CATATATA others(35): Show |
C | downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 318 | 0.0031 | -42 | c.*67 others(53): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 1479 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412595 | GAAAGAAA others(35): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18966.hp1 NA18973.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0094 a0002c0002t0001g0139 a0002c0002t0007g0038 others(2): Show |
5 | 306 | 0.0163 | -42 | c.116 others(61): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572688 | TACATACA others(35): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02896.hp1 others(1): Show |
a0001a0008 | a0001c0002a0001c0003a0008c0014 | a0001c0002t0001a0001c0003t0010a0008c0014t0016 | a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0003t0010g0282 others(1): Show |
4 | 288 | 0.0139 | -42 | c.-27 others(61): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45770204 | CCAGCAGC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 6 | 0.1667 | -42 | c.-14 others(53): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48224046 | GGAGGAGG others(35): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01257.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0233 a0001c0001t0001g0234 others(24): Show |
27 | 290 | 0.0931 | -42 | c.281 others(61): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281813 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA19088.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0058 | a0001c0001t0001g0305 a0001c0001t0007g0282 a0001c0001t0058g0245 |
3 | 262 | 0.0115 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281942 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0239 | 1 | 243 | 0.0041 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281985 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0069 | 1 | 264 | 0.0038 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282201 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | NA19074.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0247 a0001c0001t0026g0246 |
2 | 282 | 0.0071 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282244 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0131 others(12): Show |
15 | 268 | 0.0560 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282287 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0213 | 1 | 259 | 0.0039 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282330 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0252 a0001c0001t0005g0160 a0001c0001t0005g0199 others(4): Show |
7 | 289 | 0.0242 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36609177 | ACACACAC others(35): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0113 |
2 | 358 | 0.0056 | -42 | c.*46 others(53): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3140 | chr20 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(35): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01981.hp2 HG02080.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0061 others(11): Show |
16 | 17 | 0.9412 | -42 | c.177 others(59): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1047018 | GGTGTGTG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp1 NA19074.hp1 NA19091.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0012a0002c0002t0008 | a0001c0007t0012g0001 a0002c0002t0008g0099 a0002c0002t0008g0100 |
3 | 13 | 0.2308 | -42 | c.*53 others(53): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 3365 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1069990 | CGCAGCCC others(35): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG03516.hp2 NA18954.hp1 others(1): Show |
a0001a0002 | a0001c0005a0001c0007a0002c0002others(1): Show | a0001c0005t0002a0001c0007t0006a0002c0002t0002others(1): Show | a0001c0005t0002g0050 a0001c0007t0006g0016 a0002c0002t0002g0040 others(1): Show |
4 | 99 | 0.0404 | -42 | c.224 others(61): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070045 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0093 | 1 | 94 | 0.0106 | -42 | c.224 others(61): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072658 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0003a0002c0004t0001 | a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0003t0003g0014 others(1): Show |
4 | 104 | 0.0385 | -42 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073078 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18942.hp2 NA19074.hp2 |
a0001a0002 | a0001c0001a0001c0035a0002c0011 | a0001c0001t0001a0001c0035t0001a0002c0011t0002 | a0001c0001t0001g0111 a0001c0035t0001g0054 a0002c0011t0002g0031 |
3 | 102 | 0.0294 | -42 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC16A8_chr22_38073137_38089184 | 38086345 | GTGCGGGA others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0002c0002t0001g0005 others(16): Show |
90 | 450 | 0.2000 | -42 | c.-27 others(53): Show |
SLC16A8 | ENSG00000100156.12 | transcript | ENST00000681075.2 | protein_coding | 2162 | chr22 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339143 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0165 a0001c0001t0001g0168 others(27): Show |
33 | 446 | 0.0740 | -42 | c.86+ others(55): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160257824 | AATAGTGC others(35): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 308 | 0.0032 | -42 | c.414 others(57): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
SLC22A4_chr5_132289394_132349190 | 132306384 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(44): Show |
73 | 108 | 0.6759 | -42 | c.394 others(59): Show |
SLC22A4 | ENSG00000197208.6 | transcript | ENST00000200652.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19513166 | ATATATAT others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03516.hp2 NA20300.hp1 |
a0001 | a0001c0008 | a0001c0008t0081a0001c0008t0086 | a0001c0008t0081g0130 a0001c0008t0086g0131 |
2 | 186 | 0.0108 | -42 | c.*29 others(53): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 11/11 | 2945 | chr9 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19711497 | ATTATGAG others(35): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0080 | a0001c0002t0080g0052 | 1 | 186 | 0.0054 | -42 | c.930 others(61): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19506705 | GGATGATT others(35): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0148 a0002c0002t0008g0140 |
2 | 160 | 0.0125 | -42 | c.272 others(59): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
SLC25A21_chr14_36672921_37177606 | 36958131 | TAAGCCAT others(35): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0141 a0001c0001t0004g0124 a0001c0002t0001g0039 |
3 | 164 | 0.0183 | -42 | c.71- others(59): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
SLC25A53_chrX_104094214_104162009 | 104121874 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 a0001c0001t0003g0165 |
2 | 26 | 0.0769 | -42 | c.-31 others(61): Show |
SLC25A53 | ENSG00000269743.3 | transcript | ENST00000594199.3 | protein_coding | 1/1 | chrX | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84906522 | TTGTTTGT others(35): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01123.hp2 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0004a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(16): Show | a0001c0002t0001g0007 a0001c0002t0001g0097 a0001c0002t0002g0002 others(29): Show |
33 | 394 | 0.0838 | -42 | c.717 others(57): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84906539 | TCTTTCTT others(35): Show |
T | intron_variant | MODIFIER | HG02717.hp2 NA19063.hp2 |
a0002a0004 | a0002c0015a0004c0003 | a0002c0015t0004a0004c0003t0001 | a0002c0015t0004g0005 a0004c0003t0001g0170 |
2 | 387 | 0.0052 | -42 | c.717 others(57): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC2A12_chr6_133982581_134057624 | 134032424 | ATTTATAT others(35): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0005a0001c0001t0011a0001c0001t0029others(3): Show | a0001c0001t0005g0065 a0001c0001t0011g0086 a0001c0001t0029g0322 others(3): Show |
6 | 318 | 0.0189 | -42 | c.104 others(59): Show |
SLC2A12 | ENSG00000146411.6 | transcript | ENST00000275230.6 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
SLC2A2_chr3_170991347_171031720 | 171019093 | GTGTGTAT others(35): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0180 | 1 | 262 | 0.0038 | -42 | c.16- others(55): Show |
SLC2A2 | ENSG00000163581.14 | transcript | ENST00000314251.8 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SLC2A2_chr3_170991347_171031720 | 171019095 | GTGTATAT others(35): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 a0001c0002t0001g0161 |
2 | 317 | 0.0063 | -42 | c.16- others(55): Show |
SLC2A2 | ENSG00000163581.14 | transcript | ENST00000314251.8 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SLC37A1_chr21_42508852_42586426 | 42513980 | CGCACCTG others(35): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0118 | 1 | 354 | 0.0028 | -42 | c.-90 others(51): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 1/20 | 4423 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |