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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAIM_chr3_138603771_138638376 | 138609533 | A | ACTCTCTC others(88): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609533 | A | ACTCTCTC others(88): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609535 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02148.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 |
3 | 368 | 0.0082 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609535 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609537 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609541 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609543 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02809.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0321 a0003c0003t0001g0322 |
2 | 368 | 0.0054 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAIM_chr3_138603771_138638376 | 138609549 | T | TCTCTCTC others(88): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 368 | 0.0027 | 95 | c.-17 others(110): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929819 | T | TCATATAT others(88): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19054.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 3 | 303 | 0.0099 | 95 | c.278 others(112): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45568415 | T | TTTCTGTA others(88): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 346 | 0.0029 | 95 | c.169 others(114): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128540067 | C | CATATATC others(88): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02273.hp1 HG03491.hp1 others(1): Show |
a0002 | a0002c0006a0002c0016 | a0002c0006t0004a0002c0016t0002 | a0002c0006t0004g0046 a0002c0006t0004g0047 a0002c0006t0004g0050 others(1): Show |
4 | 236 | 0.0170 | 95 | c.-24 others(106): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1823 | chr5 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55331766 | T | TACACCAC others(88): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0127 | 1 | 334 | 0.0030 | 95 | c.-10 others(114): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FKBP2_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(88): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 332 | 0.0030 | 95 | c.-40 others(106): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3971 | chr11 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(88): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 95 | c.-40 others(106): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3971 | chr11 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998781 | A | ATATATAT others(88): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0196 | 1 | 292 | 0.0034 | 95 | c.*52 others(106): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4492 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998781 | A | ATATATAT others(88): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0162 | 1 | 292 | 0.0034 | 95 | c.*52 others(106): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4492 | chr13 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180613470 | T | TCCTGCTG others(88): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0019 | a0019c0051 | a0019c0051t0001 | a0019c0051t0001g0249 | 1 | 388 | 0.0026 | 95 | c.333 others(112): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 24/29 | chr5 | TogoVar | |||||||
FMNL2_chr2_152330174_152654826 | 152624051 | C | CTCCCCTC others(88): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0001 | 1 | 200 | 0.0050 | 95 | c.183 others(114): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FN3K_chr17_82730615_82756196 | 82738947 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18952.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 a0001c0001t0003g0113 a0001c0001t0003g0114 |
4 | 402 | 0.0100 | 95 | c.293 others(110): Show |
FN3K | ENSG00000167363.14 | transcript | ENST00000300784.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGAGGGG others(88): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0251 | 1 | 308 | 0.0033 | 95 | c.157 others(110): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586304 | C | CAGTGGGG others(88): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0059 | 1 | 308 | 0.0033 | 95 | c.157 others(112): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGAGGGG others(88): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0089 | 1 | 308 | 0.0033 | 95 | c.157 others(112): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGAGGGG others(88): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 |
a0001a0014 | a0001c0001a0014c0015 | a0001c0001t0006a0014c0015t0006 | a0001c0001t0006g0248 a0014c0015t0006g0189 |
2 | 308 | 0.0065 | 95 | c.157 others(112): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FRMD3_chr9_83239622_83543401 | 83479628 | G | GAAAGAAA others(88): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0019 | 1 | 242 | 0.0041 | 95 | c.147 others(114): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
FRMPD4_chrX_12133473_12729523 | 12193774 | G | GAAAGAAA others(88): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 174 | 0.0058 | 95 | c.41+ others(112): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | chrX | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46135805 | C | CCCCTCCC others(88): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 NA18971.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0003a0002c0006t0001 | a0001c0003t0003g0074 a0002c0006t0001g0099 |
2 | 230 | 0.0087 | 95 | c.*11 others(106): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 973 | chr21 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292413 | G | GATATATA others(88): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202 | 1 | 366 | 0.0027 | 95 | c.220 others(112): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233837 | T | TCCCTAGT others(88): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19063.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0161 a0001c0002t0001g0134 |
2 | 183 | 0.0109 | 95 | c.107 others(116): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GAPVD1_chr9_125256826_125372207 | 125293630 | A | ATATATAT others(88): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03098.hp1 |
a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0121 a0002c0006t0011g0122 |
2 | 340 | 0.0059 | 95 | c.-14 others(114): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GATD1_chr11_762222_782487 | 763236 | C | CCCCGCCC others(88): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01167.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0001t0062a0001c0013t0005 | a0001c0001t0005g0028 a0001c0001t0005g0048 a0001c0001t0062g0138 others(1): Show |
6 | 430 | 0.0140 | 95 | c.*76 others(106): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3985 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763236 | C | CCCCGCCC others(88): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02165.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0017a0001c0003t0039others(1): Show | a0001c0003t0004g0003 a0001c0003t0004g0044 a0001c0003t0004g0146 others(3): Show |
13 | 430 | 0.0302 | 95 | c.*76 others(106): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3985 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763250 | C | CGCCCCGC others(88): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 430 | 0.0023 | 95 | c.*76 others(106): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3971 | chr11 | TogoVar | |||||||
GHRH_chr20_37246086_37266814 | 37265405 | C | CTCAGGAG others(88): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 408 | 0.0025 | 95 | c.-36 others(106): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 3592 | chr20 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2812636 | A | AACATCAC others(88): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0314 a0001c0001t0005g0315 |
2 | 322 | 0.0062 | 95 | c.310 others(114): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GOT1_chr10_99391870_99435624 | 99428626 | G | GGGATTAC others(88): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 354 | 0.0028 | 95 | c.118 others(112): Show |
GOT1 | ENSG00000120053.12 | transcript | ENST00000370508.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92347874 | A | ATTATATA others(88): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 42 | 0.0238 | 95 | c.156 others(118): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
GPR139_chr16_20023239_20078890 | 20041128 | A | AAGGAAAG others(88): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0209 a0001c0001t0023g0036 |
2 | 364 | 0.0055 | 95 | c.128 others(112): Show |
GPR139 | ENSG00000180269.8 | transcript | ENST00000570682.2 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
GPR158_chr10_25170001_25607229 | 25241372 | C | CTCTCTTC others(88): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0021 | 1 | 162 | 0.0062 | 95 | c.100 others(116): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623303 | A | ATGAGGGT others(88): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0018 | a0018c0022 | a0018c0022t0002 | a0018c0022t0002g0109 | 1 | 400 | 0.0025 | 95 | c.-22 others(106): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2176 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623310 | C | TGCAAACA others(88): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0020 | 1 | 400 | 0.0025 | 95 | c.-22 others(106): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2170 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623405 | C | CGCAAACA others(88): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 400 | 0.0025 | 95 | c.-21 others(106): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2074 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623452 | G | GTCGTGAG others(88): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0203 | 1 | 400 | 0.0025 | 95 | c.-21 others(106): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2027 | chr2 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240623462 | T | TGCAAACA others(88): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 400 | 0.0025 | 95 | c.-21 others(106): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2017 | chr2 | TogoVar | |||||||
GREB1_chr2_11529045_11647788 | 11637028 | G | GCGGGGCA others(88): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02922.hp2 HG03453.hp2 others(2): Show |
a0017a0023a0037 | a0017c0022a0023c0074a0037c0048 | a0017c0022t0014a0023c0074t0014a0037c0048t0014 | a0017c0022t0014g0068 a0017c0022t0014g0071 a0017c0022t0014g0073 others(2): Show |
5 | 308 | 0.0162 | 95 | c.534 others(112): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRIK1_chr21_29531933_29944996 | 29888161 | T | TTTTCTTT others(88): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 162 | 0.0062 | 95 | c.118 others(114): Show |
GRIK1 | ENSG00000171189.18 | transcript | ENST00000327783.9 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
GTF2A1L_chr2_48612856_48684604 | 48615466 | A | AGGAGAGG others(88): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01257.hp2 HG02040.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0265 a0002c0002t0001g0203 a0002c0002t0001g0211 others(4): Show |
7 | 344 | 0.0204 | 95 | c.-24 others(106): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2389 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323565 | T | TGTGTGTG others(88): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0029 | a0029c0030 | a0029c0030t0003 | a0029c0030t0003g0102 | 1 | 155 | 0.0065 | 95 | c.-47 others(106): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4770 | chrX | TogoVar | |||||||
HES4_chr1_993964_1005097 | 998757 | C | CGCGGAGG others(88): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 NA18983.hp2 NA19058.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 396 | 0.0152 | 95 | c.*30 others(104): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 206 | chr1 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(88): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA19064.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0026 a0001c0002t0002g0126 others(1): Show |
4 | 380 | 0.0105 | 95 | c.-38 others(106): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(88): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 NA19007.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 3 | 380 | 0.0079 | 95 | c.-38 others(106): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar |