regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC14L1_chr17_77135969_77222101 | 77216175 | AGTAGGTA others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0046 | 1 | 430 | 0.0023 | -43 | c.*21 others(54): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 17/17 | 2158 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SEC14L3_chr22_30454229_30477017 | 30454868 | ACATAATA others(36): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 NA18941.hp2 NA18971.hp2 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005a0004c0004t0001g0007 | 9 | 454 | 0.0198 | -43 | c.*51 others(54): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4360 | chr22 | TogoVar | ||||||
SEMA5B_chr3_122904082_123032763 | 122992888 | CAGGCAGC others(36): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19030.hp1 |
a0007a0010 | a0007c0011a0010c0018 | a0007c0011t0003a0010c0018t0001 | a0007c0011t0003g0181a0010c0018t0001g0180 | 2 | 290 | 0.0069 | -43 | c.-38 others(62): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(36): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0016a0001c0001t0031others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(27): Show | 31 | 436 | 0.0711 | -43 | c.*60 others(54): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739442 | TGGGAAGT others(36): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 445 | 0.0023 | -43 | c.-34 others(54): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3428 | chr17 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1739449 | TGGCCTGA others(36): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01928.hp2 others(21): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004a0003c0003t0010 | a0003c0003t0001g0003a0003c0003t0001g0007a0003c0003t0001g0015others(15): Show | 24 | 445 | 0.0539 | -43 | c.-34 others(54): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3421 | chr17 | TogoVar | ||||||
SFRP1_chr8_41256962_41314473 | 41284353 | GGCCCCTC others(36): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 384 | 0.0026 | -43 | c.623 others(62): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350579 | TATATAGT others(36): Show |
T | intron_variant | MODIFIER | HG02040.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074 | 2 | 318 | 0.0063 | -43 | c.137 others(60): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SH3BGR_chr21_39446970_39520504 | 39457478 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA19009.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0246a0002c0002t0002g0247 | 2 | 302 | 0.0066 | -43 | c.46- others(58): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
SHC2_chr19_411589_466033 | 458192 | CGGGGAAG others(36): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0006 | a0001c0001t0006g0043a0001c0007t0006g0042 | 2 | 212 | 0.0094 | -43 | c.468 others(60): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158101256 | TTTGAAAG others(36): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0213 | 1 | 380 | 0.0026 | -43 | c.556 others(58): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
SIK1_chr21_43409483_43432131 | 43421539 | GGACCCTC others(36): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0007 | a0001c0001t0001g0002a0001c0001t0004g0007a0001c0003t0007g0006 | 9 | 32 | 0.2813 | -43 | c.499 others(56): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 5/13 | chr21 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412599 | GAAAGAAA others(36): Show |
G | intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0101 | 1 | 320 | 0.0031 | -43 | c.116 others(62): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16849395 | CACTTTAT others(36): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0092 | 1 | 372 | 0.0027 | -43 | c.727 others(60): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SIRT5_chr6_13569601_13620158 | 13609487 | GGCCAGGG others(36): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0298 | 1 | 394 | 0.0025 | -43 | c.858 others(60): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 9/9 | chr6 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280807 | AGATCTTC others(36): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0128 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281036 | AGGACGCC others(36): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01169.hp2 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0031others(1): Show | a0001c0001t0006g0324a0001c0001t0007g0281a0001c0001t0031g0321others(1): Show | 4 | 330 | 0.0121 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281065 | CGATCTTC others(36): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281256 | TGCCCGAG others(36): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0308 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281343 | TGCCCGAG others(36): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0144 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281506 | GAGAGAGG others(36): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG03942.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0042 | a0001c0001t0001g0146a0001c0001t0013g0177a0001c0001t0042g0319 | 3 | 330 | 0.0091 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281795 | CGGAGATC others(36): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01243.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0154a0001c0001t0003g0062a0001c0001t0008g0210others(7): Show | 10 | 330 | 0.0303 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281911 | GGACAGGC others(36): Show |
G | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2282165 | CGAGAAGA others(36): Show |
C | intron_variant | MODIFIER | HG00735.hp2 NA18944.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0118a0001c0001t0004g0260a0001c0001t0013g0176 | 3 | 330 | 0.0091 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2282251 | CGAGAAGA others(36): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0144 | 1 | 330 | 0.0030 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2282441 | CGGAGATC others(36): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0031others(1): Show | a0001c0001t0002g0154a0001c0001t0004g0115a0001c0001t0004g0118others(2): Show | 5 | 330 | 0.0152 | -43 | c.970 others(62): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLA2_chr20_36607318_36651196 | 36609196 | CACACACG others(36): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0334 | 1 | 360 | 0.0028 | -43 | c.*46 others(54): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3121 | chr20 | TogoVar | ||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(36): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0036others(33): Show | 49 | 376 | 0.1303 | -43 | c.177 others(60): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
SLC10A6_chr4_86818468_86854384 | 86842831 | TTTCTTTC others(36): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 350 | 0.0029 | -43 | c.377 others(60): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
SLC10A6_chr4_86818468_86854384 | 86842834 | CTTTCTTT others(36): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 350 | 0.0029 | -43 | c.377 others(60): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1069306 | ACAGCCCT others(36): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0097 | 1 | 118 | 0.0085 | -43 | c.224 others(62): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072178 | GCCCCCAG others(36): Show |
G | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0035 | 1 | 118 | 0.0085 | -43 | c.224 others(62): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072985 | GCCCCCAG others(36): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 118 | 0.0085 | -43 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1073027 | GCCCCCAG others(36): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0014 | 1 | 118 | 0.0085 | -43 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1073198 | CGGGCATC others(36): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0060 | 1 | 118 | 0.0085 | -43 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1073217 | GCCCCCAG others(36): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0009t0006 | a0001c0003t0003g0005a0001c0009t0006g0064 | 2 | 118 | 0.0170 | -43 | c.224 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1096687 | GGGGGGAA others(36): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0079 | 1 | 118 | 0.0085 | -43 | c.125 others(60): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC15A3_chr11_60932084_60957176 | 60953275 | AATGAATG others(36): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 382 | 0.0026 | -43 | c.-17 others(54): Show |
SLC15A3 | ENSG00000110446.12 | transcript | ENST00000227880.8 | protein_coding | 1100 | chr11 | TogoVar | ||||||
SLC1A3_chr5_36601606_36693334 | 36692489 | GATGTGGG others(36): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(1): Show | a0001c0001t0001g0128a0001c0001t0006g0061a0001c0001t0006g0063others(7): Show | 10 | 380 | 0.0263 | -43 | c.*62 others(54): Show |
SLC1A3 | ENSG00000079215.15 | transcript | ENST00000265113.9 | protein_coding | 4156 | chr5 | TogoVar | ||||||
SLC22A18_chr11_2897278_2930246 | 2921552 | AAGCCTGT others(36): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(219): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0001c0012others(15): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(150): Show | 222 | 405 | 0.5482 | -43 | c.865 others(58): Show |
SLC22A18 | ENSG00000110628.16 | transcript | ENST00000649076.2 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC25A24_chr1_108129043_108205343 | 108186733 | TCAAAGCT others(36): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 374 | 0.0027 | -43 | c.184 others(58): Show |
SLC25A24 | ENSG00000085491.17 | transcript | ENST00000565488.6 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
SLC25A3_chr12_98588686_98611367 | 98601634 | ATATAATT others(36): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0001 | 1 | 420 | 0.0024 | -43 | c.*10 others(52): Show |
SLC25A3 | ENSG00000075415.15 | transcript | ENST00000228318.8 | protein_coding | 8/8 | 108 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
SLC30A2_chr1_26032252_26051118 | 26033090 | CCAGGCGT others(36): Show |
C | downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 360 | 0.0028 | -43 | c.*60 others(54): Show |
SLC30A2 | ENSG00000158014.15 | transcript | ENST00000374276.4 | protein_coding | 4161 | chr1 | TogoVar | ||||||
SLC35D2_chr9_96315710_96388711 | 96386550 | CATTACAA others(36): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247a0001c0001t0001g0250 | 2 | 284 | 0.0070 | -43 | c.-29 others(54): Show |
SLC35D2 | ENSG00000130958.13 | transcript | ENST00000253270.13 | protein_coding | 2840 | chr9 | TogoVar | ||||||
SLC35E2B_chr1_1656478_1697795 | 1666766 | CCCCAGCA others(36): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0217 | 1 | 348 | 0.0029 | -43 | c.981 others(58): Show |
SLC35E2B | ENSG00000189339.12 | transcript | ENST00000617444.5 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42531175 | ACCGCCTT others(36): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 356 | 0.0028 | -43 | c.139 others(60): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
SLC5A10_chr17_18947165_19027565 | 19003936 | CCAGCGCC others(36): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0223 | 1 | 354 | 0.0028 | -43 | c.983 others(60): Show |
SLC5A10 | ENSG00000154025.16 | transcript | ENST00000395645.4 | protein_coding | 9/14 | chr17 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10890099 | CTGTGGCT others(36): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG03540.hp2 |
a0001 | a0001c0002a0001c0005a0001c0024 | a0001c0002t0002a0001c0005t0002a0001c0024t0005 | a0001c0002t0002g0017a0001c0005t0002g0203a0001c0024t0005g0045 | 3 | 362 | 0.0083 | -43 | c.891 others(62): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A19_chr5_1196595_1230111 | 1219256 | AGGCGTGT others(36): Show |
A | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0347 | 1 | 458 | 0.0022 | -43 | c.137 others(60): Show |
SLC6A19 | ENSG00000174358.16 | transcript | ENST00000304460.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLC6A4_chr17_30189319_30240697 | 30237266 | AGGGCTGC others(36): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(130): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(110): Show | 133 | 286 | 0.4650 | -43 | c.-19 others(54): Show |
SLC6A4 | ENSG00000108576.10 | transcript | ENST00000650711.1 | protein_coding | 1570 | chr17 | TogoVar |