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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHROOM4_chrX_50581796_50819194 | 50795063 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0050 | 1 | 175 | 0.0057 | 176 | c.117 others(195): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402343 | G | GCCCCGCT others(169): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0063 others(1): Show |
4 | 242 | 0.0165 | 176 | c.*35 others(187): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3372 | chr11 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281961 | C | CGGTGGCG others(169): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0160 | 1 | 330 | 0.0030 | 176 | c.970 others(195): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270760 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0223 | 1 | 266 | 0.0038 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270766 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 266 | 0.0038 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270766 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01167.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0115 others(21): Show |
24 | 266 | 0.0902 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270766 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 266 | 0.0038 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270766 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 266 | 0.0038 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48270766 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 a0001c0001t0002g0250 |
2 | 266 | 0.0075 | 176 | c.240 others(195): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072862 | C | CCCAGCAC others(169): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0020 | 1 | 118 | 0.0085 | 176 | c.224 others(193): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC23A3_chr2_219156465_219175029 | 219159576 | C | CATATATA others(169): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 434 | 0.0023 | 176 | c.*23 others(187): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1888 | chr2 | TogoVar | |||||||
SLC25A46_chr5_110734007_110770157 | 110750213 | T | TAGAAAGG others(169): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080 | 1 | 386 | 0.0026 | 176 | c.563 others(193): Show |
SLC25A46 | ENSG00000164209.17 | transcript | ENST00000355943.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC2A5_chr1_9030106_9074635 | 9053317 | A | ATATATTT others(169): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0047 | 1 | 336 | 0.0030 | 176 | c.293 others(193): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
SLC39A12_chr10_17946918_18048285 | 18041721 | A | ATATATGT others(169): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0276 | 1 | 368 | 0.0027 | 176 | c.194 others(193): Show |
SLC39A12 | ENSG00000148482.12 | transcript | ENST00000377369.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203227 | T | TGGAAAGA others(169): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0151 | 1 | 188 | 0.0053 | 176 | c.*83 others(187): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3946 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203228 | G | GGAAAGAG others(169): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0182 | 1 | 188 | 0.0053 | 176 | c.*83 others(187): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3945 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203370 | A | AGAGAGAG others(169): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0186 | 1 | 188 | 0.0053 | 176 | c.*82 others(187): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3803 | chr8 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26680283 | T | TTATATAT others(169): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01515.hp2 others(24): Show |
a0001 | a0001c0003a0001c0009a0001c0012 | a0001c0003t0001a0001c0003t0017a0001c0003t0020others(8): Show | a0001c0003t0001g0015 a0001c0003t0001g0061 a0001c0003t0001g0097 others(22): Show |
27 | 412 | 0.0655 | 176 | c.147 others(193): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26680306 | T | TATATATA others(169): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0003 | a0003c0008 | a0003c0008t0037 | a0003c0008t0037g0038 | 1 | 412 | 0.0024 | 176 | c.147 others(193): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26680306 | T | TATATATA others(169): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0170 | 1 | 412 | 0.0024 | 176 | c.147 others(193): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | |||||||
SLC5A9_chr1_48217716_48253638 | 48244726 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0073 | 1 | 420 | 0.0024 | 176 | c.183 others(195): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
SLC5A9_chr1_48217716_48253638 | 48244736 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02602.hp1 HG02818.hp2 others(5): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0009 | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(1): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0026 others(3): Show |
8 | 420 | 0.0191 | 176 | c.183 others(195): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40200173 | G | GATAAATA others(169): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0106 | 1 | 236 | 0.0042 | 176 | c.180 others(197): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200177 | T | TATATATA others(169): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0018 | 1 | 236 | 0.0042 | 176 | c.180 others(197): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200177 | T | TATATATA others(169): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0078 | 1 | 236 | 0.0042 | 176 | c.180 others(197): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143449381 | A | ATTATATA others(169): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0017 | a0001c0002t0007g0094 a0001c0002t0017g0010 |
2 | 108 | 0.0185 | 176 | c.146 others(197): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92161757 | A | AGAACACC others(169): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 | 1 | 190 | 0.0053 | 176 | c.175 others(193): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472603 | G | GATATATA others(169): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0006 | 1 | 230 | 0.0044 | 176 | c.467 others(193): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246402367 | T | TAACAACG others(169): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01975.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 a0001c0002t0001g0028 |
2 | 150 | 0.0133 | 176 | c.165 others(195): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1221909 | G | GCCTATCT others(169): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 190 | 0.0053 | 176 | c.719 others(195): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNX29_chr16_11971734_12579287 | 12117395 | G | GTGGTCAA others(169): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0014 | 1 | 176 | 0.0057 | 176 | c.140 others(195): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179353209 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0142 | 1 | 382 | 0.0026 | 176 | c.159 others(193): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179353211 | A | ATATATAT others(169): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 382 | 0.0026 | 176 | c.159 others(193): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38389863 | G | GTGTATAT others(169): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 289 | 0.0035 | 176 | c.168 others(195): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7448836 | T | TTCCCTCC others(169): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0117 | 1 | 168 | 0.0060 | 176 | c.548 others(195): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(169): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02970.hp2 HG03017.hp2 others(3): Show |
a0001a0004a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0047a0001c0003t0015others(3): Show | a0001c0001t0004g0138 a0001c0002t0047g0020 a0001c0003t0015g0140 others(3): Show |
6 | 168 | 0.0357 | 176 | c.548 others(195): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(169): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 168 | 0.0060 | 176 | c.548 others(195): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(169): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0045 | 1 | 168 | 0.0060 | 176 | c.548 others(195): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPADH_chr10_122667850_122684494 | 122681397 | A | ATGTGTGA others(169): Show |
downstream_gene_variant | MODIFIER | NA19059.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 414 | 0.0024 | 176 | c.*23 others(187): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 1904 | chr10 | TogoVar | |||||||
SPADH_chr10_122667850_122684494 | 122681515 | A | ATGTGTGA others(169): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 1 | 414 | 0.0024 | 176 | c.*24 others(187): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2022 | chr10 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0034 | 1 | 251 | 0.0040 | 176 | c.*35 others(185): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(169): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 251 | 0.0040 | 176 | c.*35 others(185): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | |||||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(169): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0019 | 1 | 418 | 0.0024 | 176 | c.*54 others(187): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4462554 | C | CACCAGTC others(169): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01106.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0001c0023others(7): Show | a0001c0001t0001a0001c0013t0001a0001c0023t0003others(9): Show | a0001c0001t0001g0266 a0001c0013t0001g0261 a0001c0013t0001g0359 others(40): Show |
43 | 362 | 0.1188 | 176 | c.111 others(195): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462558 | C | CACCAGTC others(169): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00738.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(20): Show | a0001c0001t0001g0034 a0001c0001t0001g0240 a0001c0001t0001g0274 others(41): Show |
44 | 362 | 0.1216 | 176 | c.111 others(195): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(169): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0034 | 1 | 260 | 0.0039 | 176 | c.138 others(195): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(169): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0044 |
2 | 260 | 0.0077 | 176 | c.138 others(195): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(169): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 260 | 0.0039 | 176 | c.138 others(195): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(169): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0019 | a0019c0011 | a0019c0011t0001 | a0019c0011t0001g0072 | 1 | 260 | 0.0039 | 176 | c.138 others(195): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55519335 | A | ATCATGAG others(169): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 412 | 0.0024 | 176 | c.*33 others(185): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 237 | chr19 | TogoVar |