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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(843): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0206 | 1 | 272 | 0.0037 | 850 | c.238 others(871): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(843): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 344 | 0.0029 | 850 | c.617 others(867): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243067 | C | CAGGGCCC others(843): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0057 | 1 | 183 | 0.0055 | 850 | c.107 others(869): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243067 | C | CAGGGCCC others(843): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02027.hp1 NA18999.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0065a0001c0011t0001g0116a0001c0011t0001g0129 | 3 | 183 | 0.0164 | 850 | c.107 others(869): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176508 | C | CCGGGGTG others(843): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 444 | 0.0023 | 850 | c.-40 others(865): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 93507944 | T | TTAAAAAT others(843): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0013 | 1 | 34 | 0.0294 | 850 | c.199 others(869): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(843): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 350 | 0.0029 | 850 | c.94- others(863): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(843): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 350 | 0.0029 | 850 | c.94- others(863): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322625 | T | TGGAATAT others(843): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 323 | 0.0031 | 850 | c.-24 others(861): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2344 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(843): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0202a0001c0001t0222 | a0001c0001t0202g0174a0001c0001t0222g0176 | 2 | 276 | 0.0073 | 850 | c.*65 others(861): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(843): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 408 | 0.0025 | 850 | c.-30 others(861): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(843): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0262 | 1 | 375 | 0.0027 | 850 | c.-22 others(861): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997234 | G | GGGGTCGG others(843): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 375 | 0.0027 | 850 | c.-22 others(861): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 436 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997483 | G | GGGGTCGG others(843): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0323 | 1 | 375 | 0.0027 | 850 | c.-19 others(861): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 187 | chr6 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824264 | T | TTATATAT others(843): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 86 | 0.0116 | 850 | c.683 others(869): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(843): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 260 | 0.0039 | 850 | c.125 others(867): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(843): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 850 | c.-42 others(861): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(843): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0004a0002c0012t0001 | a0001c0001t0004g0081a0002c0012t0001g0040 | 2 | 288 | 0.0069 | 850 | c.483 others(865): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NRCAM_chr7_108142649_108461436 | 108163892 | G | GGGTGGGG others(843): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0105 | 1 | 208 | 0.0048 | 850 | c.346 others(869): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841393 | C | CGGCGAGC others(843): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 242 | 0.0041 | 850 | c.361 others(869): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841433 | G | GGCGAGCA others(843): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 242 | 0.0041 | 850 | c.361 others(869): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841437 | A | AGCAGGTC others(843): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 242 | 0.0041 | 850 | c.361 others(869): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCTTC others(843): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0122 | 1 | 178 | 0.0056 | 850 | c.773 others(865): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PASK_chr2_241101099_241154472 | 241116001 | C | CGGTCCTC others(843): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0015 | a0015c0043 | a0015c0043t0001 | a0015c0043t0001g0119 | 1 | 376 | 0.0027 | 850 | c.307 others(867): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
PDCD1_chr2_241844884_241863894 | 241848461 | C | CGCACTGC others(843): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 407 | 0.0025 | 850 | c.*25 others(861): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1422 | chr2 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(843): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0007a0001c0022t0033 | a0001c0001t0007g0057a0001c0022t0033g0328 | 2 | 332 | 0.0060 | 850 | c.112 others(867): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(843): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0027 | a0027c0066 | a0027c0066t0001 | a0027c0066t0001g0261 | 1 | 308 | 0.0033 | 850 | c.371 others(867): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402285 | C | CCCCGCCC others(843): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 216 | 0.0046 | 850 | c.173 others(867): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(843): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0072 | 1 | 374 | 0.0027 | 850 | c.-46 others(861): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(843): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0141 | 1 | 160 | 0.0063 | 850 | c.389 others(871): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 217296 | C | CCCAAGGC others(843): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 133 | 0.0075 | 850 | c.728 others(867): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 217653 | G | TTGGGGCA others(843): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 133 | 0.0075 | 850 | c.728 others(863): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 217823 | C | TTGGGGCA others(843): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0105a0001c0002t0001g0123 | 2 | 133 | 0.0150 | 850 | c.727 others(867): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 217823 | C | TTGGGGCA others(843): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0112 | 1 | 133 | 0.0075 | 850 | c.727 others(867): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 218163 | C | CTGGGGCA others(843): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0126 | 1 | 133 | 0.0075 | 850 | c.727 others(867): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(843): Show |
intron_variant | MODIFIER | HG03704.hp2 HG04115.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0140others(3): Show | 6 | 394 | 0.0152 | 850 | c.135 others(867): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(843): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0104 | 1 | 203 | 0.0049 | 850 | c.-12 others(869): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(843): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02976.hp1 HG02976.hp2 others(1): Show |
a0000a0001 | a0000c0017a0001c0001a0001c0016 | a0000c0017t0001a0001c0001t0001a0001c0001t0008others(1): Show | a0000c0017t0001g0064a0001c0001t0001g0113a0001c0001t0008g0114others(1): Show | 4 | 203 | 0.0197 | 850 | c.-12 others(869): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339790 | T | TAGCTCCA others(843): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0037 | a0002c0037t0070 | a0002c0037t0070g0255 | 1 | 280 | 0.0036 | 850 | c.89- others(863): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246072180 | T | TTAGTTCT others(843): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 150 | 0.0067 | 850 | c.532 others(871): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
THAP8_chr19_36029984_36059285 | 36055621 | A | ACCAAGGT others(843): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 440 | 0.0023 | 850 | c.-14 others(861): Show |
THAP8 | ENSG00000161277.11 | transcript | ENST00000292894.2 | protein_coding | 1337 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311748 | T | TTCCCAGT others(843): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 344 | 0.0029 | 850 | c.327 others(867): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(843): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 850 | c.*29 others(861): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(843): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0124 | 1 | 174 | 0.0058 | 850 | c.41- others(867): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917084 | G | GGAGGCTG others(843): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0176 | 1 | 344 | 0.0029 | 850 | c.218 others(865): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
WDR62_chr19_36049897_36110108 | 36055621 | A | ACCAAGGT others(843): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0284 | 1 | 420 | 0.0024 | 850 | c.177 others(865): Show |
WDR62 | ENSG00000075702.19 | transcript | ENST00000401500.7 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100276383 | A | AATGGGAG others(844): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01258.hp1 |
a0002a0004 | a0002c0078a0004c0008a0004c0077 | a0002c0078t0007a0004c0008t0003a0004c0077t0001 | a0002c0078t0007g0184a0004c0008t0003g0035a0004c0077t0001g0185 | 3 | 228 | 0.0132 | 851 | c.789 others(868): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(844): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0036others(28): Show | 39 | 336 | 0.1161 | 851 | c.94+ others(866): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(844): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0256a0001c0001t0003g0258a0001c0001t0005g0222others(4): Show | 7 | 336 | 0.0208 | 851 | c.94+ others(866): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(844): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 851 | c.*36 others(862): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar |