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 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18989.hp1 | a0126 | a0126c0110 | a0126c0110t0001 | a0126c0110t0001g0182 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp2 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0037 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18971.hp1 | a0002 | a0002c0112 | a0002c0112t0001 | a0002c0112t0001g0279 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp2 | a0105 | a0105c0113 | a0105c0113t0001 | a0105c0113t0001g0131 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG04228.hp2 | a0007 | a0007c0114 | a0007c0114t0001 | a0007c0114t0001g0272 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18978.hp2 | a0007 | a0007c0115 | a0007c0115t0001 | a0007c0115t0001g0246 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG01257.hp1 | a0059 | a0059c0116 | a0059c0116t0001 | a0059c0116t0001g0096 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
a0001a0002a0007others(29): Show | a0001c0002a0001c0012a0001c0031others(98): Show | a0001c0002t0001a0001c0012t0001a0001c0031t0001others(98): Show | a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0194 others(120): Show |
129 | 303 | 0.4257 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG02027.hp2 NA18948.hp2 others(1): Show |
a0001a0008a0044others(1): Show | a0001c0193a0008c0192a0044c0191others(1): Show | a0001c0193t0001a0008c0192t0001a0044c0191t0001others(1): Show | a0001c0193t0001g0009 a0008c0192t0001g0070 a0044c0191t0001g0072 others(1): Show |
4 | 178 | 0.0225 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18954.hp1 | a0001 | a0001c0194 | a0001c0194t0001 | a0001c0194t0001g0241 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00639.hp2 HG01074.hp2 others(1): Show |
a0013 | a0013c0015a0013c0046a0013c0047 | a0013c0015t0001a0013c0046t0001a0013c0047t0001 | a0013c0015t0001g0137 a0013c0015t0001g0139 a0013c0046t0001g0142 others(1): Show |
4 | 178 | 0.0225 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp2 | a0055 | a0055c0044 | a0055c0044t0001 | a0055c0044t0001g0138 | 1 | 175 | 0.0057 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1067): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 4 | 0.2500 | 1074 | c.279 others(1089): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(1067): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0119 | 1 | 159 | 0.0063 | 1074 | c.106 others(1091): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(1067): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0011 | a0011c0057 | a0011c0057t0002 | a0011c0057t0002g0065 | 1 | 184 | 0.0054 | 1074 | c.533 others(1091): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325239 | T | TGAGTGAG others(1067): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 389 | 0.0026 | 1074 | c.194 others(1091): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1067): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18974.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0027a0001c0001t0035 | a0001c0001t0017g0187 a0001c0001t0027g0241 a0001c0001t0035g0016 |
3 | 238 | 0.0126 | 1074 | c.139 others(1091): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1067): Show |
intron_variant | MODIFIER | HG03041.hp2 HG06807.hp2 NA18961.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0063others(1): Show | a0001c0001t0005g0003 a0001c0001t0009g0209 a0001c0001t0063g0092 others(1): Show |
4 | 239 | 0.0167 | 1074 | c.139 others(1091): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248649 | C | CTAGCAGT others(1067): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0089 | 1 | 302 | 0.0033 | 1074 | c.*12 others(1087): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2555 | chr11 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(1067): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18950.hp2 NA18983.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001 | a0001c0001t0001g0024 a0002c0002t0001g0227 a0003c0006t0001g0228 |
3 | 234 | 0.0128 | 1074 | c.395 others(1091): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(1067): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 144 | 0.0069 | 1074 | c.*28 others(1085): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1067): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 1074 | c.*24 others(1085): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871163 | C | CCACACAC others(1067): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 315 | 0.0032 | 1074 | c.*35 others(1093): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(1067): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 | 1 | 37 | 0.0270 | 1074 | c.181 others(1095): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9491840 | A | ATTCTTAA others(1067): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 355 | 0.0028 | 1074 | c.-57 others(1091): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/9 | chr19 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1068): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0073 | a0002c0001t0073g0227 | 1 | 40 | 0.0250 | 1075 | c.118 others(1094): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345208 | G | GCGGGGGG others(1068): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0006 | a0006c0006 | a0006c0006t0021 | a0006c0006t0021g0245 a0006c0006t0021g0246 |
2 | 264 | 0.0076 | 1075 | c.62+ others(1090): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 3 | 0.3333 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 4 | 0.5000 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 3 | 0.3333 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 3 | 0.3333 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00733.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0001 | a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 others(29): Show |
32 | 34 | 0.9412 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1068): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0055 | 1 | 3 | 0.3333 | 1075 | c.787 others(1090): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251509 | G | GGAAGGAA others(1068): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0235 | 1 | 239 | 0.0042 | 1075 | c.927 others(1092): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1068): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0302 | 1 | 140 | 0.0071 | 1075 | c.37+ others(1088): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1068): Show |
intron_variant | MODIFIER | HG03669.hp2 HG03704.hp1 HG03834.hp1 others(1): Show |
a0001a0002a0013 | a0001c0004a0002c0027a0013c0056others(1): Show | a0001c0004t0002a0002c0027t0005a0013c0056t0002others(1): Show | a0001c0004t0002g0324 a0002c0027t0005g0151 a0013c0056t0002g0222 others(1): Show |
4 | 143 | 0.0280 | 1075 | c.37+ others(1088): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1068): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0237 | 1 | 140 | 0.0071 | 1075 | c.37+ others(1088): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1068): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0131 | a0001c0131t0004 | a0001c0131t0004g0293 | 1 | 140 | 0.0071 | 1075 | c.37+ others(1088): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1068): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03098.hp1 others(4): Show |
a0001a0022 | a0001c0020a0001c0026a0001c0047others(3): Show | a0001c0020t0016a0001c0026t0007a0001c0047t0011others(3): Show | a0001c0020t0016g0308 a0001c0026t0007g0307 a0001c0047t0011g0331 others(4): Show |
7 | 146 | 0.0479 | 1075 | c.37+ others(1088): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1068): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 223 | 0.0045 | 1075 | c.*36 others(1086): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241571043 | G | GTGGTGGA others(1068): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0112 | 1 | 293 | 0.0034 | 1075 | c.513 others(1090): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(1068): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 169 | 0.0059 | 1075 | c.403 others(1090): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1068): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0005 | 1 | 211 | 0.0047 | 1075 | c.342 others(1096): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1068): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 a0002c0002t0002g0195 a0002c0002t0002g0227 |
3 | 179 | 0.0168 | 1075 | c.342 others(1096): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19202405 | C | CCATCCAC others(1068): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0097 | 1 | 326 | 0.0031 | 1075 | c.360 others(1092): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 22/32 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1068): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 217 | 0.0046 | 1075 | c.*51 others(1086): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250920 | A | ACACCCCA others(1068): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 109 | 0.0092 | 1075 | c.207 others(1094): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1068): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0288 | 1 | 229 | 0.0044 | 1075 | c.228 others(1092): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1068): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0050 | a0050c0046 | a0050c0046t0001 | a0050c0046t0001g0034 | 1 | 289 | 0.0035 | 1075 | c.-49 others(1086): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1068): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 a0001c0001t0003g0189 |
2 | 213 | 0.0094 | 1075 | c.193 others(1094): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar |