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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHQ1_chr3_72744277_72853445 | 72852094 | CTCTCTCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0008 | 1 | 215 | 0.0047 | -40 | c.-37 others(51): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3650 | chr3 | TogoVar | |||||||
SHROOM3_chr4_76430229_76788253 | 76608638 | TAGCATAG others(33): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0002others(6): Show | a0001c0001t0002a0002c0003t0001a0003c0002t0001others(8): Show | a0001c0001t0002g0181 a0002c0003t0001g0163 a0003c0002t0001g0022 others(15): Show |
18 | 216 | 0.0833 | -40 | c.323 others(59): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608673 | TAGCACAG others(33): Show |
T | intron_variant | MODIFIER | HG03579.hp1 NA18906.hp1 |
a0001a0005 | a0001c0001a0005c0040 | a0001c0001t0002a0005c0040t0001 | a0001c0001t0002g0185 a0005c0040t0001g0155 |
2 | 179 | 0.0112 | -40 | c.323 others(59): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50795114 | GATATATA others(33): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(100): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0016a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 others(100): Show |
103 | 167 | 0.6168 | -40 | c.117 others(59): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 410468 | CCAGCTCT others(33): Show |
C | intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 a0001c0004t0001g0191 a0001c0004t0001g0192 others(1): Show |
6 | 240 | 0.0250 | -40 | c.-15 others(57): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411838 | GCGGGGGG others(33): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 232 | 0.0043 | -40 | c.-15 others(59): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 412615 | CCAGCTCT others(33): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01993.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0087 a0001c0001t0001g0111 others(14): Show |
17 | 205 | 0.0829 | -40 | c.-15 others(59): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51495221 | ATGGATGG others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01123.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(7): Show | a0001c0002t0001g0025 a0001c0002t0001g0092 a0001c0003t0001g0012 others(10): Show |
31 | 430 | 0.0721 | -40 | c.159 others(59): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51495325 | ATGGATGG others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01256.hp1 others(11): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0003t0001others(4): Show | a0001c0002t0001g0026 a0001c0002t0005g0084 a0001c0002t0005g0086 others(6): Show |
14 | 430 | 0.0326 | -40 | c.159 others(59): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938572 | GGAGGGGA others(33): Show |
G | intron_variant | MODIFIER | HG02622.hp1 NA19087.hp1 |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0022a0011c0015t0001 | a0001c0001t0022g0159 a0011c0015t0001g0129 |
2 | 360 | 0.0056 | -40 | c.455 others(59): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139112692 | CGCCCGGC others(33): Show |
C | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 198 | 0.0051 | -40 | c.244 others(57): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139170642 | ATCTGAGA others(33): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001a0007 | a0001c0002a0007c0011 | a0001c0002t0001a0007c0011t0001 | a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0104 others(1): Show |
4 | 198 | 0.0202 | -40 | c.-11 others(59): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412599 | GAAAGAAA others(33): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG03834.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001a0002c0002t0003 | a0001c0001t0008g0130 a0002c0002t0001g0033 a0002c0002t0001g0257 others(1): Show |
4 | 311 | 0.0129 | -40 | c.116 others(59): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232415872 | GAGTCAGT others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(16): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0057a0002c0006others(9): Show | a0001c0002t0001a0001c0057t0002a0002c0006t0004others(11): Show | a0001c0002t0001g0156 a0001c0002t0001g0193 a0001c0002t0001g0198 others(16): Show |
19 | 290 | 0.0655 | -40 | c.463 others(57): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232415988 | GAGTCAGT others(33): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0057others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0006others(3): Show | a0001c0002t0001g0198 a0001c0003t0001g0137 a0001c0003t0006g0003 others(4): Show |
7 | 289 | 0.0242 | -40 | c.463 others(57): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38196560 | GTGGAGGT others(33): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0008 | 1 | 162 | 0.0062 | -40 | c.484 others(59): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2309780 | GCCCCCCC others(33): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0307 | 1 | 54 | 0.0185 | -40 | c.*30 others(51): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 7/7 | 3024 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLA2_chr20_36607318_36651196 | 36609179 | ACACACAC others(33): Show |
A | downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 357 | 0.0028 | -40 | c.*46 others(51): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3138 | chr20 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(33): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0097 a0001c0002t0002g0053 a0001c0002t0002g0110 others(9): Show |
12 | 13 | 0.9231 | -40 | c.177 others(57): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837274 | AGAAAGAA others(33): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0258 a0001c0001t0003g0259 others(1): Show |
5 | 348 | 0.0144 | -40 | c.378 others(57): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86842786 | TTTTCTTT others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(16): Show |
20 | 95 | 0.2105 | -40 | c.377 others(57): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48240032 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0181 a0001c0001t0006g0019 a0001c0001t0006g0258 others(5): Show |
8 | 198 | 0.0404 | -40 | c.121 others(59): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1047018 | GGTGTGTG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0033 | a0004c0033t0004 | a0004c0033t0004g0072 | 1 | 11 | 0.0909 | -40 | c.*53 others(51): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 3365 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1047595 | GTGGGTTA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(13): Show |
a0001a0002a0005 | a0001c0003a0001c0013a0001c0014others(3): Show | a0001c0003t0003a0001c0003t0017a0001c0013t0003others(5): Show | a0001c0003t0003g0002 a0001c0003t0003g0005 a0001c0003t0003g0006 others(13): Show |
16 | 118 | 0.1356 | -40 | c.*47 others(51): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 2788 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070351 | CCCCCAGT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 1 | 118 | 0.0085 | -40 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071312 | GGTATCAC others(33): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0018 | a0001c0018t0020 | a0001c0018t0020g0076 | 1 | 118 | 0.0085 | -40 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071973 | GGGCATCA others(33): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0060 | 1 | 116 | 0.0086 | -40 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071976 | CATCACAC others(33): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0014 | 1 | 111 | 0.0090 | -40 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072538 | GGGCATCA others(33): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG02723.hp1 HG02976.hp2 |
a0001a0002a0004 | a0001c0003a0002c0004a0004c0033 | a0001c0003t0003a0002c0004t0022a0004c0033t0004 | a0001c0003t0003g0071 a0002c0004t0022g0087 a0004c0033t0004g0072 |
3 | 117 | 0.0256 | -40 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC15A4_chr12_128788194_128828958 | 128814214 | CGTATGAT others(33): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0071 | 1 | 302 | 0.0033 | -40 | c.842 others(55): Show |
SLC15A4 | ENSG00000139370.12 | transcript | ENST00000266771.10 | protein_coding | 2/7 | chr12 | TogoVar | |||||||
SLC16A11_chr17_7036621_7049092 | 7043209 | GGTTGCCC others(33): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0018 | 1 | 418 | 0.0024 | -40 | c.202 others(54): Show |
SLC16A11 | ENSG00000174326.15 | transcript | ENST00000574600.3 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
SLC17A5_chr6_73588379_73658992 | 73618244 | GAAATAAA others(33): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00673.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 others(84): Show |
93 | 172 | 0.5407 | -40 | c.979 others(57): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339115 | TGTTATAT others(33): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 430 | 0.0023 | -40 | c.86+ others(53): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SLC17A7_chr19_49424401_49446527 | 49444292 | CTTCCTTT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(92): Show |
186 | 412 | 0.4515 | -40 | c.-29 others(51): Show |
SLC17A7 | ENSG00000104888.10 | transcript | ENST00000221485.8 | protein_coding | 2766 | chr19 | TogoVar | |||||||
SLC17A9_chr20_62947709_62974585 | 62961030 | GGGTGGGC others(33): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01109.hp1 others(24): Show |
a0001a0003a0005 | a0001c0001a0001c0019a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0042 others(13): Show |
27 | 430 | 0.0628 | -40 | c.497 others(55): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC17A9_chr20_62947709_62974585 | 62961070 | CGGTGGGC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 224 | 0.0045 | -40 | c.497 others(55): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45544677 | CCCGGCCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0018 | 1 | 316 | 0.0032 | -40 | c.-23 others(51): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 2238 | chr21 | TogoVar | |||||||
SLC20A2_chr8_42411475_42506231 | 42505060 | GGGAGAGG others(33): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 236 | 0.0042 | -40 | c.-43 others(51): Show |
SLC20A2 | ENSG00000168575.10 | transcript | ENST00000520262.6 | protein_coding | 3830 | chr8 | TogoVar | |||||||
SLC22A4_chr5_132289394_132349190 | 132306384 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02486.hp1 HG02970.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0082 others(1): Show |
4 | 39 | 0.1026 | -40 | c.394 others(57): Show |
SLC22A4 | ENSG00000197208.6 | transcript | ENST00000200652.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19620963 | CATGATCA others(33): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0033 a0001c0001t0027g0034 |
2 | 186 | 0.0108 | -40 | c.969 others(57): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 3/10 | chr9 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19678754 | CTGCCGGG others(33): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0036 | 1 | 160 | 0.0063 | -40 | c.768 others(57): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A21_chr14_36672921_37177606 | 37098722 | TAGATAGA others(33): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 92 | 0.0109 | -40 | c.70+ others(57): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
SLC25A43_chrX_119394336_119459478 | 119457092 | AAGAAAGA others(33): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0191 | 1 | 289 | 0.0035 | -40 | c.*40 others(51): Show |
SLC25A43 | ENSG00000077713.19 | transcript | ENST00000217909.8 | protein_coding | 2615 | chrX | TogoVar | |||||||
SLC25A43_chrX_119394336_119459478 | 119457096 | AAGAAAGA others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 |
3 | 298 | 0.0101 | -40 | c.*40 others(51): Show |
SLC25A43 | ENSG00000077713.19 | transcript | ENST00000217909.8 | protein_coding | 2619 | chrX | TogoVar | |||||||
SLC25A53_chrX_104094214_104162009 | 104121874 | GATATATA others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(86): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0218 others(60): Show |
89 | 113 | 0.7876 | -40 | c.-31 others(59): Show |
SLC25A53 | ENSG00000269743.3 | transcript | ENST00000594199.3 | protein_coding | 1/1 | chrX | TogoVar | |||||||
SLC26A4_chr7_107655828_107722809 | 107718990 | AAAGGTAA others(33): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0052 | 1 | 364 | 0.0027 | -40 | c.*35 others(51): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 1182 | chr7 | TogoVar | |||||||
SLC27A2_chr15_50177196_50241385 | 50188963 | GTAGATAG others(33): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 351 | 0.0028 | -40 | c.478 others(57): Show |
SLC27A2 | ENSG00000140284.11 | transcript | ENST00000267842.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84889669 | CTTCCTTC others(33): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0039 | a0002c0039t0001 | a0002c0039t0001g0267 | 1 | 394 | 0.0025 | -40 | c.186 others(55): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84889677 | TTTCCTTC others(33): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0020others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(12): Show | a0001c0002t0001g0007 a0001c0002t0002g0002 a0001c0004t0001g0384 others(19): Show |
23 | 290 | 0.0793 | -40 | c.186 others(55): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84906504 | GTTTGTTT others(33): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02630.hp2 others(2): Show |
a0001a0006a0017 | a0001c0002a0001c0004a0006c0044others(1): Show | a0001c0002t0006a0001c0004t0004a0006c0044t0001others(1): Show | a0001c0002t0006g0285 a0001c0004t0004g0035 a0001c0004t0004g0037 others(2): Show |
5 | 366 | 0.0137 | -40 | c.717 others(55): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |