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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3325): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0228 | 1 | 264 | 0.0038 | 3332 | c.400 others(3351): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71680082 | T | TCCCTCCC others(3325): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0010 | 1 | 76 | 0.0132 | 3332 | c.150 others(3351): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3325): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19065.hp1 |
a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0080a0016c0014t0001g0081 | 2 | 292 | 0.0069 | 3332 | c.218 others(3347): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639432 | T | TGGGGGTG others(3325): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 227 | 0.0044 | 3332 | c.719 others(3349): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3325): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 351 | 0.0029 | 3332 | c.-45 others(3343): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3326): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 167 | 0.0060 | 3333 | c.*53 others(3344): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77906317 | A | AGTGTCAC others(3327): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 233 | 0.0043 | 3334 | c.-45 others(3345): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4375 | chrX | TogoVar | ||||||
COX7B_chrX_77894468_77912376 | 77906317 | A | AGTGTCAC others(3327): Show |
intragenic_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0002 | 1 | 294 | 0.0034 | 3334 | n.779 others(3351): Show |
COX7B | ENSG00000131174.7 | gene_variant | ENSG00000131174.7 | chrX | TogoVar | ||||||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3327): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 338 | 0.0030 | 3334 | c.932 others(3351): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3327): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262 | 1 | 338 | 0.0030 | 3334 | c.932 others(3351): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3327): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 338 | 0.0030 | 3334 | c.932 others(3351): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3327): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0004 | a0003c0004t0110 | a0003c0004t0110g0083 | 1 | 250 | 0.0040 | 3334 | c.-21 others(3351): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3327): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 351 | 0.0029 | 3334 | c.-45 others(3345): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3328): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 334 | 0.0030 | 3335 | c.147 others(3352): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3328): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0009 | 1 | 268 | 0.0037 | 3335 | c.139 others(3356): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3328): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0108 | 1 | 268 | 0.0037 | 3335 | c.139 others(3356): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(3328): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 375 | 0.0027 | 3335 | c.-22 others(3346): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3328): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 338 | 0.0030 | 3335 | c.932 others(3352): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3328): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 338 | 0.0059 | 3335 | c.932 others(3352): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3328): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 338 | 0.0030 | 3335 | c.932 others(3352): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3328): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 338 | 0.0030 | 3335 | c.932 others(3352): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NXN_chr17_794310_984776 | 952558 | T | TGGGGGGG others(3328): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 242 | 0.0041 | 3335 | c.360 others(3354): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952634 | G | GGTCAGAC others(3328): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 242 | 0.0041 | 3335 | c.360 others(3354): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3328): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0008 | a0008c0126 | a0008c0126t0004 | a0008c0126t0004g0270 | 1 | 282 | 0.0036 | 3335 | c.299 others(3350): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3328): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0144 | 1 | 214 | 0.0047 | 3335 | c.206 others(3354): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3329): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0205 | 1 | 236 | 0.0042 | 3336 | c.294 others(3353): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3329): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 264 | 0.0038 | 3336 | c.400 others(3355): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3329): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0154 | 1 | 282 | 0.0036 | 3336 | c.258 others(3353): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3329): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0196 | 1 | 282 | 0.0036 | 3336 | c.258 others(3353): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3329): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256a0001c0001t0002g0258 | 2 | 338 | 0.0059 | 3336 | c.932 others(3353): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
METAP1_chr4_98990721_99067809 | 99054001 | T | TAGATTTC others(3329): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 338 | 0.0030 | 3336 | c.932 others(3353): Show |
METAP1 | ENSG00000164024.12 | transcript | ENST00000296411.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TPX2_chr20_31734290_31806800 | 31777678 | T | TTCATTTA others(3329): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 270 | 0.0037 | 3336 | c.882 others(3349): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3330): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 423 | 0.0024 | 3337 | c.*19 others(3348): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3330): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0037 | 1 | 423 | 0.0024 | 3337 | c.*19 others(3348): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3330): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0002a0002c0009t0002 | a0001c0002t0002g0098a0001c0002t0002g0127a0001c0002t0002g0205others(3): Show | 6 | 282 | 0.0213 | 3337 | c.258 others(3354): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3330): Show |
intron_variant | MODIFIER | HG01517.hp2 HG01952.hp2 HG02074.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0002a0001c0002t0055a0001c0004t0001others(2): Show | a0001c0002t0002g0096a0001c0002t0002g0114a0001c0002t0002g0123others(6): Show | 9 | 282 | 0.0319 | 3337 | c.258 others(3354): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3330): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 282 | 0.0036 | 3337 | c.258 others(3354): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 64507003 | T | TCTGTCAC others(3331): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0006 | 1 | 24 | 0.0417 | 3338 | c.564 others(3359): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3331): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0041a0001c0002t0002g0019a0001c0002t0002g0079 | 3 | 423 | 0.0071 | 3338 | c.*19 others(3349): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3331): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0102a0001c0004t0002g0037 | 2 | 423 | 0.0047 | 3338 | c.*19 others(3349): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3331): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 423 | 0.0024 | 3338 | c.*19 others(3349): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(3331): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0095 | 1 | 188 | 0.0053 | 3338 | c.147 others(3355): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGGAC others(3331): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 133 | 0.0075 | 3338 | c.351 others(3357): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044111 | G | GGTATCAT others(3331): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 351 | 0.0029 | 3338 | c.-45 others(3349): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4543 | chr15 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(3331): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 344 | 0.0029 | 3338 | c.218 others(3355): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3332): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0110 | 1 | 298 | 0.0034 | 3339 | c.126 others(3356): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3332): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 423 | 0.0024 | 3339 | c.*19 others(3350): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3332): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158 | 1 | 423 | 0.0024 | 3339 | c.*19 others(3350): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3332): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0116 | 2 | 423 | 0.0047 | 3339 | c.*19 others(3350): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3332): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061a0001c0002t0002g0071 | 2 | 423 | 0.0047 | 3339 | c.*19 others(3350): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar |