| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0205 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG03239.hp1 HG03710.hp1 |
a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0201 a0002c0029t0001g0202 |
2 | 16 | 0.1250 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02293.hp1 HG03654.hp1 HG03831.hp1 others(4): Show |
a0002a0007a0083 | a0002c0034a0002c0156a0002c0157others(3): Show | a0002c0034t0001a0002c0156t0001a0002c0157t0001others(3): Show | a0002c0034t0001g0271 a0002c0034t0001g0274 a0002c0156t0001g0269 others(4): Show |
7 | 21 | 0.3333 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG01993.hp2 | a0002 | a0002c0125 | a0002c0125t0001 | a0002c0125t0001g0247 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02486.hp1 NA19030.hp1 |
a0008 | a0008c0035 | a0008c0035t0001 | a0008c0035t0001g0156 a0008c0035t0001g0254 |
2 | 16 | 0.1250 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp1 | a0035 | a0035c0237 | a0035c0237t0001 | a0035c0237t0001g0008 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp2 | a0055 | a0055c0044 | a0055c0044t0001 | a0055c0044t0001g0138 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02895.hp1 | a0094 | a0094c0107 | a0094c0107t0001 | a0094c0107t0001g0007 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02572.hp1 | a0086 | a0086c0051 | a0086c0051t0001 | a0086c0051t0001g0108 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02698.hp1 | a0002 | a0002c0119 | a0002c0119t0001 | a0002c0119t0001g0074 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp1 | a0104 | a0104c0049 | a0104c0049t0001 | a0104c0049t0001g0036 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp1 | a0091 | a0091c0072 | a0091c0072t0001 | a0091c0072t0001g0267 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp1 | a0090 | a0090c0070 | a0090c0070t0001 | a0090c0070t0001g0157 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02976.hp2 | a0097 | a0097c0067 | a0097c0067t0001 | a0097c0067t0001g0082 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG01361.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
a0027a0037a0087others(1): Show | a0027c0053a0037c0059a0037c0061others(2): Show | a0027c0053t0001a0037c0059t0001a0037c0061t0001others(2): Show | a0027c0053t0001g0259 a0037c0059t0001g0261 a0037c0061t0001g0262 others(2): Show |
5 | 19 | 0.2632 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG01978.hp2 | a0027 | a0027c0055 | a0027c0055t0001 | a0027c0055t0001g0260 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101004216 | T | TAGCCCCA others(2663): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0080 | a0080c0238 | a0080c0238t0001 | a0080c0238t0001g0291 | 1 | 15 | 0.0667 | 2670 | c.136 others(2681): Show |
p.Pro others(2685): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13717/16366 | 13659/16008 | 4553/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2663): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0045 | 1 | 43 | 0.0233 | 2670 | c.-12 others(2691): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SV2C_chr5_76078383_76338956 | 76191190 | C | CTACACAC others(2663): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02523.hp1 NA19007.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0022a0001c0001t0077a0001c0001t0092others(2): Show | a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 others(2): Show |
5 | 154 | 0.0325 | 2670 | c.581 others(2687): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2664): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0098 | 1 | 67 | 0.0149 | 2671 | c.487 others(2686): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
| MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2664): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 398 | 0.0025 | 2671 | c.283 others(2688): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2664): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 23 | 0.0435 | 2671 | c.284 others(2690): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
| ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2664): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0019 | 1 | 280 | 0.0036 | 2671 | c.-18 others(2692): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGGAA others(2665): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 234 | 0.0043 | 2672 | c.157 others(2689): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2666): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 76 | 0.0132 | 2673 | c.955 others(2690): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 402933 | T | TTTCATCA others(2666): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 1 | 87 | 0.0115 | 2673 | c.115 others(2692): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586343 | C | CAAAGGTG others(2666): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 184 | 0.0054 | 2673 | c.157 others(2690): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(2666): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0299 | 1 | 172 | 0.0058 | 2673 | c.157 others(2690): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2666): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0041 | a0041c0050 | a0041c0050t0001 | a0041c0050t0001g0058 | 1 | 8 | 0.1250 | 2673 | c.723 others(2690): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2666): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0029 | 1 | 202 | 0.0050 | 2673 | c.624 others(2690): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877529 | G | GAGGGAGG others(2666): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0015 | a0001c0015t0021 | a0001c0015t0021g0093 | 1 | 234 | 0.0043 | 2673 | c.224 others(2692): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2666): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 259 | 0.0039 | 2673 | c.101 others(2692): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431841 | T | TAGGGTGG others(2666): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0166 | 1 | 337 | 0.0030 | 2673 | c.101 others(2692): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(2666): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 325 | 0.0031 | 2673 | c.101 others(2690): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2667): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222 | 1 | 264 | 0.0038 | 2674 | c.16+ others(2689): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
| ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2667): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0224 | 1 | 264 | 0.0038 | 2674 | c.16+ others(2689): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
| AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2667): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 288 | 0.0035 | 2674 | c.96+ others(2689): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
| AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2668): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0043 | 1 | 371 | 0.0027 | 2675 | c.96+ others(2690): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
| AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2668): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0074 | 1 | 371 | 0.0027 | 2675 | c.96+ others(2690): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
| CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(2668): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0008 | 1 | 3 | 0.3333 | 2675 | c.*14 others(2686): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
| FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(2668): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 261 | 0.0038 | 2675 | c.157 others(2690): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MED16_chr19_862963_898187 | 871903 | A | AGAGCGGG others(2668): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 54 | 0.0185 | 2675 | c.209 others(2690): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
| SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2668): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0086 | 1 | 211 | 0.0047 | 2675 | c.-22 others(2694): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2668): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0084 | 1 | 280 | 0.0036 | 2675 | c.-18 others(2696): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2668): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 404 | 0.0025 | 2675 | c.-16 others(2686): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 411129 | C | CCGGATCC others(2669): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0123 | 1 | 218 | 0.0046 | 2676 | c.-21 others(2687): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2669): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 227 | 0.0044 | 2676 | c.-25 others(2693): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997488 | G | GTCGGGGG others(2669): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0016 | a0016c0023 | a0016c0023t0005 | a0016c0023t0005g0343 | 1 | 189 | 0.0053 | 2676 | c.-19 others(2687): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 182 | chr6 | TogoVar | |||||||
| MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2669): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0006a0001c0013 | a0001c0006t0001a0001c0013t0001 | a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 |
3 | 11 | 0.2727 | 2676 | c.135 others(2693): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar |