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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGAGGGG others(6472): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0240 | 1 | 271 | 0.0037 | 6479 | c.157 others(6496): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(6478): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 86 | 0.0116 | 6485 | c.269 others(6504): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(6480): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0212 | 1 | 273 | 0.0037 | 6487 | c.269 others(6506): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654618 | A | GTCCTCAC others(6481): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 292 | 0.0034 | 6488 | c.-52 others(6505): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02155.hp1 | a0001 | a0001c0139 | a0001c0139t0001 | a0001c0139t0001g0180 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG01099.hp2 HG02280.hp2 |
a0001a0043 | a0001c0032a0043c0164 | a0001c0032t0001a0043c0164t0001 | a0001c0032t0001g0141 a0001c0032t0001g0236 a0043c0164t0001g0198 |
3 | 215 | 0.0140 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG03704.hp2 NA19081.hp1 NA20905.hp2 |
a0111a0135a0141 | a0111c0118a0135c0232a0141c0233 | a0111c0118t0001a0135c0232t0001a0141c0233t0001 | a0111c0118t0001g0209 a0135c0232t0001g0204 a0141c0233t0001g0107 |
3 | 215 | 0.0140 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 | a0044 | a0044c0191 | a0044c0191t0001 | a0044c0191t0001g0072 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA19007.hp1 | a0001 | a0001c0193 | a0001c0193t0001 | a0001c0193t0001g0009 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02027.hp2 | a0071 | a0071c0050 | a0071c0050t0001 | a0071c0050t0001g0009 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA19057.hp1 | a0001 | a0001c0140 | a0001c0140t0001 | a0001c0140t0001g0179 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA19010.hp1 | a0001 | a0001c0169 | a0001c0169t0001 | a0001c0169t0001g0193 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02683.hp1 | a0001 | a0001c0150 | a0001c0150t0001 | a0001c0150t0001g0071 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 | a0001 | a0001c0151 | a0001c0151t0001 | a0001c0151t0001g0132 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG03492.hp2 | a0001 | a0001c0163 | a0001c0163t0001 | a0001c0163t0001g0277 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp2 HG02080.hp2 HG03688.hp2 others(16): Show |
a0001a0049a0124 | a0001c0002a0001c0141a0001c0144others(6): Show | a0001c0002t0001a0001c0141t0001a0001c0144t0001others(6): Show | a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0194 others(14): Show |
19 | 231 | 0.0823 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA19084.hp2 | a0001 | a0001c0145 | a0001c0145t0001 | a0001c0145t0001g0005 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp2 | a0001 | a0001c0153 | a0001c0153t0001 | a0001c0153t0001g0243 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG01123.hp1 | a0001 | a0001c0143 | a0001c0143t0001 | a0001c0143t0001g0230 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA20805.hp2 | a0001 | a0001c0146 | a0001c0146t0001 | a0001c0146t0001g0076 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | NA18955.hp1 NA19090.hp1 |
a0001 | a0001c0155a0001c0199 | a0001c0155t0001a0001c0199t0001 | a0001c0155t0001g0257 a0001c0199t0001g0190 |
2 | 214 | 0.0093 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 | a0013 | a0013c0047 | a0013c0047t0001 | a0013c0047t0001g0140 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02083.hp2 NA18946.hp2 |
a0007 | a0007c0038 | a0007c0038t0001 | a0007c0038t0001g0234 a0007c0038t0001g0235 |
2 | 214 | 0.0093 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(6491): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp1 | a0001 | a0001c0138 | a0001c0138t0001 | a0001c0138t0001g0192 | 1 | 213 | 0.0047 | 6498 | c.138 others(6509): Show |
p.Thr others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp1 HG01169.hp2 |
a0009 | a0009c0039 | a0009c0039t0001 | a0009c0039t0001g0255 a0009c0039t0001g0256 |
2 | 308 | 0.0065 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | HG04184.hp1 | a0009 | a0009c0205 | a0009c0205t0001 | a0009c0205t0001g0175 | 1 | 307 | 0.0033 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | HG02040.hp1 NA18999.hp2 |
a0009 | a0009c0206a0009c0219 | a0009c0206t0001a0009c0219t0001 | a0009c0206t0001g0050 a0009c0219t0001g0055 |
2 | 308 | 0.0065 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG01243.hp1 NA20752.hp1 |
a0009a0042a0057 | a0009c0207a0042c0201a0057c0227 | a0009c0207t0001a0042c0201t0001a0057c0227t0001 | a0009c0207t0001g0185 a0042c0201t0001g0223 a0057c0227t0001g0144 |
3 | 309 | 0.0097 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp1 | a0104 | a0104c0049 | a0104c0049t0001 | a0104c0049t0001g0036 | 1 | 307 | 0.0033 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004375 | G | CTACCACA others(6491): Show |
disruptive_inframe_insertion | MODERATE | NA18995.hp2 | a0129 | a0129c0204 | a0129c0204t0001 | a0129c0204t0001g0001 | 1 | 307 | 0.0033 | 6498 | c.138 others(6509): Show |
p.Ala others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13870/16366 | 13812/16008 | 4604/5335 | chr7 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 101004395 | C | CAACTCAA others(6491): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 | a0001 | a0001c0128 | a0001c0128t0001 | a0001c0128t0001g0164 | 1 | 192 | 0.0052 | 6498 | c.138 others(6509): Show |
p.Ser others(6513): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13919/16366 | 13861/16008 | 4621/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6493): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 129 | 0.0078 | 6500 | c.86- others(6513): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(6493): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0023 | a0023c0022 | a0023c0022t0012 | a0023c0022t0012g0254 | 1 | 32 | 0.0313 | 6500 | c.218 others(6515): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716477 | T | TTGGTGTC others(6504): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0008 | a0008c0027 | a0008c0027t0001 | a0008c0027t0001g0125 | 1 | 143 | 0.0070 | 6511 | c.86- others(6522): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294452 | G | GTGCCCGG others(6505): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 364 | 0.0027 | 6512 | c.340 others(6529): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294636 | G | AACTCTAG others(6505): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0209 | 1 | 302 | 0.0033 | 6512 | c.340 others(6529): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(6507): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 271 | 0.0037 | 6514 | c.157 others(6531): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586547 | G | GCGGGGGG others(6507): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 277 | 0.0036 | 6514 | c.157 others(6531): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311780 | G | GTGCCCCA others(6508): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 317 | 0.0032 | 6515 | c.327 others(6532): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432079 | G | GTGGAGAG others(6509): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0209 | 1 | 356 | 0.0028 | 6516 | c.101 others(6533): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(6510): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0141 | 1 | 2 | 0.5000 | 6517 | c.126 others(6534): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48973557 | T | TTTATATA others(6511): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 422 | 0.0024 | 6518 | c.*19 others(6529): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 1940 | chr11 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948008 | G | GTGGTGAT others(6512): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0032 | a0004c0032t0004 | a0004c0032t0004g0106 | 1 | 128 | 0.0078 | 6519 | c.47- others(6536): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(6513): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0143 | 1 | 2 | 0.5000 | 6520 | c.126 others(6537): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(6513): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 215 | 0.0047 | 6520 | c.129 others(6537): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586489 | C | CAAAGGTA others(6518): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 172 | 0.0058 | 6525 | c.157 others(6542): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586502 | G | GGGGGGAA others(6518): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0009 | 1 | 284 | 0.0035 | 6525 | c.157 others(6542): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6520): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0125 | 1 | 152 | 0.0066 | 6527 | c.228 others(6548): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66641156 | C | CAAAAAAC others(6522): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 166 | 0.0060 | 6529 | c.289 others(6544): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66641156 | C | CAAAAAAC others(6524): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 166 | 0.0060 | 6531 | c.289 others(6546): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |