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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHOX_chrX_625791_656584 | 655596 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0133 | 1 | 202 | 0.0050 | -34 | c.*10 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4013 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655598 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0023a0001c0001t0055others(1): Show | a0001c0001t0009g0008 a0001c0001t0023g0078 a0001c0001t0055g0146 others(1): Show |
4 | 210 | 0.0190 | -34 | c.*10 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4015 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655600 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0173 | a0001c0001t0173g0074 | 1 | 205 | 0.0049 | -34 | c.*10 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4017 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655602 | CTCTCTCT others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0084a0001c0001t0160a0001c0001t0168others(1): Show | a0001c0001t0084g0196 a0001c0001t0160g0114 a0001c0001t0168g0066 others(1): Show |
4 | 199 | 0.0201 | -34 | c.*10 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4019 | chrX | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852082 | CTCTCTCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0129 | 1 | 220 | 0.0045 | -34 | c.-37 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3638 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852084 | CTCTCTCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 218 | 0.0046 | -34 | c.-37 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3640 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852086 | CTCTCTCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 219 | 0.0046 | -34 | c.-37 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3642 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852088 | CTCTCTCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0217 | 1 | 207 | 0.0048 | -34 | c.-37 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3644 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852090 | CTCTCTCT others(27): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 216 | 0.0046 | -34 | c.-37 others(45): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3646 | chr3 | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50696398 | CTGTGTGA others(27): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0049 | 1 | 173 | 0.0058 | -34 | c.118 others(49): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(27): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 4 | 0.2500 | -34 | c.173 others(51): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139145629 | CGTGTGTG others(27): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0196 | 1 | 5 | 0.2000 | -34 | c.-10 others(53): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412603 | GAAAGAAA others(27): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 313 | 0.0032 | -34 | c.116 others(53): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412649 | GAAAGAAA others(27): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0129 a0002c0002t0001g0100 |
2 | 312 | 0.0064 | -34 | c.116 others(53): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458006 | TTCTCTCT others(27): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0067 a0001c0001t0002g0040 a0001c0001t0002g0065 others(46): Show |
49 | 88 | 0.5568 | -34 | c.176 others(51): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIN3B_chr19_16824398_16885349 | 16875760 | TTGGTCTG others(27): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 370 | 0.0027 | -34 | c.259 others(51): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232572662 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00735.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0093 a0001c0001t0002g0019 a0001c0001t0002g0022 others(35): Show |
38 | 290 | 0.1310 | -34 | c.-27 others(53): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572718 | CACACATA others(27): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01978.hp2 HG02273.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0045a0002c0012others(4): Show | a0001c0001t0001a0001c0045t0002a0002c0012t0001others(4): Show | a0001c0001t0001g0218 a0001c0045t0002g0048 a0002c0012t0001g0149 others(4): Show |
7 | 250 | 0.0280 | -34 | c.-27 others(53): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIRPA_chr20_1890407_1945592 | 1938780 | ATGCCTCA others(27): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0030 | 1 | 416 | 0.0024 | -34 | c.*12 others(45): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 8/8 | 1215 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SI_chr3_164973898_165083496 | 164992671 | TTTGGAAG others(27): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 264 | 0.0038 | -34 | c.484 others(51): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 41/47 | chr3 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95492636 | CAAAAAAA others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG03225.hp1 HG03654.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0022 a0003c0003t0004g0064 a0003c0003t0004g0171 others(3): Show |
7 | 165 | 0.0424 | -34 | c.380 others(53): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 36/42 | chr5 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609185 | ACACACAC others(27): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02922.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0010 | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0005t0010g0340 |
3 | 358 | 0.0084 | -34 | c.*46 others(45): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3132 | chr20 | TogoVar | |||||||
SLAMF7_chr1_160734247_160759821 | 160751838 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 438 | 0.0023 | -34 | c.874 others(49): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01952.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0040 others(12): Show |
20 | 21 | 0.9524 | -34 | c.177 others(51): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC10A2_chr13_103038998_103071417 | 103053081 | GGTGTGTG others(27): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0001t0016a0001c0007t0005 | a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0073 others(9): Show |
23 | 40 | 0.5750 | -34 | c.497 others(49): Show |
SLC10A2 | ENSG00000125255.7 | transcript | ENST00000245312.5 | protein_coding | 2/5 | chr13 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1085606 | TGGACGGA others(27): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03209.hp1 |
a0001a0002a0005 | a0001c0009a0002c0015a0005c0037 | a0001c0009t0006a0002c0015t0015a0005c0037t0003 | a0001c0009t0006g0017 a0002c0015t0015g0085 a0005c0037t0003g0008 |
3 | 116 | 0.0259 | -34 | c.676 others(49): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 6/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1085638 | AAGGGACG others(27): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG03654.hp1 HG03927.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0008others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0008t0002others(1): Show | a0001c0001t0001g0109 a0001c0006t0001g0028 a0002c0008t0002g0062 others(1): Show |
4 | 75 | 0.0533 | -34 | c.676 others(49): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 6/23 | chr5 | TogoVar | |||||||
SLC15A2_chr3_121889401_121949188 | 121925726 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 13 | 0.0769 | -34 | c.112 others(51): Show |
SLC15A2 | ENSG00000163406.11 | transcript | ENST00000489711.6 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC15A2_chr3_121889401_121949188 | 121925749 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0006a0002c0002t0021a0002c0003t0006 | a0002c0002t0006g0248 a0002c0002t0021g0250 a0002c0003t0006g0004 others(1): Show |
8 | 336 | 0.0238 | -34 | c.112 others(51): Show |
SLC15A2 | ENSG00000163406.11 | transcript | ENST00000489711.6 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC15A5_chr12_16183485_16282685 | 16193780 | GGAGAGAG others(27): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02630.hp2 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0036a0004c0011others(1): Show | a0002c0002t0002a0003c0036t0002a0004c0011t0002others(2): Show | a0002c0002t0002g0211 a0003c0036t0002g0313 a0004c0011t0002g0059 others(3): Show |
6 | 55 | 0.1091 | -34 | c.159 others(51): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 8/8 | chr12 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224223 | CGTGCAGA others(27): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show |
232 | 407 | 0.5700 | -34 | c.-49 others(45): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4818 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224335 | TGTGCAGT others(27): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0011 | a0001c0001t0001a0001c0001t0017a0001c0008t0005others(1): Show | a0001c0001t0001g0218 a0001c0001t0017g0216 a0001c0008t0005g0217 others(1): Show |
4 | 385 | 0.0104 | -34 | c.-47 others(45): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4706 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224515 | GTGCAGTC others(27): Show |
G | upstream_gene_variant | MODIFIER | HG01943.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0259 a0001c0001t0006g0155 |
2 | 408 | 0.0049 | -34 | c.-46 others(45): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4526 | chr17 | TogoVar | |||||||
SLC16A6_chr17_68262026_68296127 | 68275985 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG03654.hp1 HG03942.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0020 | a0002c0002t0003g0026 a0002c0002t0020g0061 |
3 | 406 | 0.0074 | -34 | c.233 others(51): Show |
SLC16A6 | ENSG00000108932.13 | transcript | ENST00000580666.6 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SLC17A5_chr6_73588379_73658992 | 73595904 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(296): Show |
316 | 322 | 0.9814 | -34 | c.135 others(51): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SLC17A5_chr6_73588379_73658992 | 73595948 | ACGTATAT others(27): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0006 | a0004c0006t0011 | a0004c0006t0011g0012 | 1 | 322 | 0.0031 | -34 | c.135 others(51): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 10/10 | chr6 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339132 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(103): Show |
128 | 447 | 0.2864 | -34 | c.86+ others(47): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC17A6_chr11_22333381_22384503 | 22339144 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18939.hp1 NA19009.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0001 | a0001c0001t0002g0335 a0001c0001t0003g0323 a0001c0001t0003g0345 others(1): Show |
4 | 448 | 0.0089 | -34 | c.86+ others(47): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339147 | ATATAGTT others(27): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 448 | 0.0022 | -34 | c.86+ others(47): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A16_chr6_110419687_110481613 | 110473491 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0376 | 1 | 10 | 0.1000 | -34 | c.53+ others(49): Show |
SLC22A16 | ENSG00000004809.14 | transcript | ENST00000368919.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SLC23A2_chr20_4847358_5006510 | 4857277 | AACACATA others(27): Show |
A | intron_variant | MODIFIER | HG03492.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0098a0001c0004t0058 | a0001c0001t0098g0173 a0001c0004t0058g0012 |
2 | 201 | 0.0100 | -34 | c.172 others(50): Show |
SLC23A2 | ENSG00000089057.15 | transcript | ENST00000338244.6 | protein_coding | 16/16 | chr20 | TogoVar | |||||||
SLC23A3_chr2_219156465_219175029 | 219159554 | TATATATA others(27): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 others(6): Show |
13 | 389 | 0.0334 | -34 | c.*23 others(45): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1910 | chr2 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19230627 | GGGGGGAA others(27): Show |
G | intron_variant | MODIFIER | HG03486.hp2 HG03516.hp2 HG03704.hp2 |
a0001a0002 | a0001c0003a0001c0004a0002c0005 | a0001c0003t0003a0001c0004t0001a0002c0005t0004 | a0001c0003t0003g0042 a0001c0004t0001g0043 a0002c0005t0004g0041 |
3 | 160 | 0.0188 | -34 | c.142 others(53): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A21_chr14_36672921_37177606 | 36961235 | GGAGCCTC others(27): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0142 | 1 | 164 | 0.0061 | -34 | c.71- others(51): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
SLC25A21_chr14_36672921_37177606 | 37108704 | AGTGTGTG others(27): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0141 a0001c0001t0006g0137 a0001c0001t0014g0142 |
3 | 32 | 0.0938 | -34 | c.70+ others(51): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | |||||||
SLC25A24_chr1_108129043_108205343 | 108180616 | ATCTCTCT others(27): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0021a0001c0006t0020 | a0001c0003t0021g0076 a0001c0006t0020g0036 |
2 | 11 | 0.1818 | -34 | c.398 others(51): Show |
SLC25A24 | ENSG00000085491.17 | transcript | ENST00000565488.6 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
SLC25A48_chr5_135829663_135893637 | 135886588 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01074.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0103 others(21): Show |
26 | 254 | 0.1024 | -34 | c.*8- others(49): Show |
SLC25A48 | ENSG00000145832.16 | transcript | ENST00000681962.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84904763 | CAATTCTG others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0002c0015others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(37): Show | a0001c0002t0001g0010 a0001c0002t0001g0388 a0001c0002t0002g0243 others(127): Show |
130 | 150 | 0.8667 | -34 | c.603 others(49): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84906530 | TTCTTTCT others(27): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02976.hp1 |
a0001a0004 | a0001c0004a0004c0003 | a0001c0004t0001a0004c0003t0001 | a0001c0004t0001g0385 a0004c0003t0001g0115 |
2 | 394 | 0.0051 | -34 | c.717 others(49): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84906543 | TCTTTCTT others(27): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0020 | 1 | 394 | 0.0025 | -34 | c.717 others(49): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |