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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF9_chr1_149047186_149108551 | 149061657 | A | AGTTCAAA others(3177): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0146 | 1 | 344 | 0.0029 | 3184 | c.225 others(3201): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 22/29 | chr1 | TogoVar | ||||||
NEK5_chr13_52028611_52134073 | 52055634 | G | GGCCAATA others(3178): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0040a0009c0007t0001g0054 | 2 | 334 | 0.0060 | 3185 | c.211 others(3204): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3178): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 408 | 0.0025 | 3185 | c.651 others(3200): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9875235 | C | CTCTGTCT others(3178): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 336 | 0.0030 | 3185 | c.129 others(3206): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 10/11 | chr4 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3178): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0025 | 1 | 158 | 0.0063 | 3185 | c.284 others(3204): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3178): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 158 | 0.0063 | 3185 | c.284 others(3204): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3178): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0091 | 1 | 362 | 0.0028 | 3185 | c.-18 others(3206): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43911343 | T | TAAAGACT others(3179): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 342 | 0.0029 | 3186 | c.-49 others(3203): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCTC others(3179): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 296 | 0.0034 | 3186 | c.*67 others(3197): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3179): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0073 | 1 | 264 | 0.0038 | 3186 | c.400 others(3205): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3179): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 264 | 0.0038 | 3186 | c.400 others(3205): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3179): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0051 | a0001c0006t0051g0038 | 1 | 264 | 0.0038 | 3186 | c.400 others(3205): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143860566 | C | CGGCGGCC others(3179): Show |
conservative_inframe_insertion | MODERATE | HG03139.hp2 | a0059 | a0059c0152 | a0059c0152t0001 | a0059c0152t0001g0274 | 1 | 424 | 0.0024 | 3186 | c.126 others(3197): Show |
p.Thr others(3201): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12762/16005 | 12687/15267 | 4229/5088 | chr8 | TogoVar | ||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3179): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19030.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0098a0001c0008t0001g0099 | 2 | 289 | 0.0069 | 3186 | c.269 others(3205): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3179): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013a0001c0002t0001g0102 | 2 | 289 | 0.0069 | 3186 | c.269 others(3205): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(3179): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0009 | a0001c0009t0017a0001c0009t0018 | a0001c0009t0017g0093a0001c0009t0018g0092 | 2 | 289 | 0.0069 | 3186 | c.269 others(3205): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCCTCCA others(3179): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0079 | 1 | 282 | 0.0036 | 3186 | c.258 others(3203): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NBPF9_chr1_149047186_149108551 | 149061657 | A | AGTTCAAA others(3179): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0147 | 1 | 344 | 0.0029 | 3186 | c.225 others(3203): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 22/29 | chr1 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCTC others(3179): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0005 | a0005c0018 | a0005c0018t0002 | a0005c0018t0002g0018 | 1 | 60 | 0.0167 | 3186 | c.299 others(3203): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431903 | A | ATAGGGTG others(3179): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0266 | 1 | 376 | 0.0027 | 3186 | c.101 others(3205): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431984 | A | AGAGGGTG others(3179): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 376 | 0.0027 | 3186 | c.101 others(3203): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3179): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 310 | 0.0032 | 3186 | c.160 others(3205): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693729 | A | ACCACCTC others(3179): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 3186 | c.-30 others(3197): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2922 | chr20 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3179): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0260 | 1 | 272 | 0.0037 | 3186 | c.389 others(3205): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(3180): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0281 | 1 | 298 | 0.0034 | 3187 | c.955 others(3204): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185061 | T | TCCCCCTT others(3180): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0024 | a0024c0051 | a0024c0051t0003 | a0024c0051t0003g0035 | 1 | 174 | 0.0058 | 3187 | c.193 others(3206): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3180): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0005 | a0005c0120 | a0005c0120t0001 | a0005c0120t0001g0196 | 1 | 282 | 0.0036 | 3187 | c.299 others(3202): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771927 | A | AGGGAGGG others(3180): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0083 | 1 | 272 | 0.0037 | 3187 | c.389 others(3206): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25757889 | A | ACTCATTC others(3181): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0252 | 1 | 300 | 0.0033 | 3188 | c.655 others(3207): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154493515 | T | TGGATTTC others(3181): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 38 | 0.0263 | 3188 | c.457 others(3207): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3181): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0030 | a0030c0127 | a0030c0127t0001 | a0030c0127t0001g0066 | 1 | 186 | 0.0054 | 3188 | c.723 others(3205): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NBPF9_chr1_149047186_149108551 | 149061657 | A | AGTTCAAA others(3181): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0148 | 1 | 344 | 0.0029 | 3188 | c.225 others(3205): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 22/29 | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43911343 | T | TAAAGACT others(3182): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 342 | 0.0029 | 3189 | c.-49 others(3206): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131680807 | G | GTGTGTCT others(3182): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 86 | 0.0116 | 3189 | c.83- others(3208): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3182): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 362 | 0.0028 | 3189 | c.-18 others(3210): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3182): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0237 | 1 | 362 | 0.0028 | 3189 | c.-18 others(3210): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3183): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0117 | 1 | 264 | 0.0038 | 3190 | c.400 others(3209): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3183): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0039 | 1 | 214 | 0.0047 | 3190 | c.206 others(3209): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533375 | T | TCCTCCCT others(3183): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 74 | 0.0135 | 3190 | c.*36 others(3199): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 242 | chrX | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7333670 | A | ATGTTTTT others(3184): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 360 | 0.0028 | 3191 | c.243 others(3208): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3184): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0011 | 1 | 318 | 0.0031 | 3191 | c.-91 others(3212): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3184): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0016 | 1 | 168 | 0.0060 | 3191 | c.206 others(3212): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3184): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0122 | 1 | 168 | 0.0060 | 3191 | c.206 others(3212): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24261141 | T | TAAAAGTT others(3184): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0090 | 1 | 240 | 0.0042 | 3191 | c.354 others(3210): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3184): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0028 | a0028c0032 | a0028c0032t0001 | a0028c0032t0001g0238 | 1 | 282 | 0.0036 | 3191 | c.299 others(3206): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(3184): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093a0002c0002t0001g0094 | 2 | 445 | 0.0045 | 3191 | c.-25 others(3202): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(3184): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 445 | 0.0023 | 3191 | c.-25 others(3202): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGGAAG others(3185): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 316 | 0.0032 | 3192 | c.44- others(3205): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG04184.hp2 | a0076 | a0076c0198 | a0076c0198t0003 | a0076c0198t0003g0228 | 1 | 424 | 0.0024 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143866372 | G | GCCGCCCA others(3185): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 | a0166 | a0166c0212 | a0166c0212t0003 | a0166c0212t0003g0109 | 1 | 424 | 0.0024 | 3192 | c.688 others(3201): Show |
p.Gly others(3207): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6956/16005 | 6881/15267 | 2294/5088 | chr8 | TogoVar |