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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2345): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0051 | 1 | 66 | 0.0152 | 2352 | c.56- others(2365): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2345): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 390 | 0.0026 | 2352 | c.972 others(2365): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2345): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 390 | 0.0026 | 2352 | c.972 others(2365): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406172 | A | AGGCTTCC others(2345): Show |
3_prime_UTR_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0154 | a0001c0001t0154g0118 | 1 | 276 | 0.0036 | 2352 | c.*66 others(2361): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 661 | chr2 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953712 | T | TGTCCACA others(2345): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0011 | a0011c0040 | a0011c0040t0002 | a0011c0040t0002g0264 | 1 | 294 | 0.0034 | 2352 | c.503 others(2367): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787509 | G | GTGACCTG others(2345): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG00738.hp1 HG01346.hp1 others(5): Show |
a0010a0013a0059others(1): Show | a0010c0013a0010c0067a0013c0056others(4): Show | a0010c0013t0001a0010c0067t0001a0013c0056t0001others(4): Show | a0010c0013t0001g0076 a0010c0013t0001g0113 a0010c0067t0001g0073 others(5): Show |
8 | 249 | 0.0321 | 2352 | c.407 others(2361): Show |
p.Gly others(2367): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4182/16756 | 4070/16239 | 1357/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2345): Show |
conservative_inframe_insertion | MODERATE | NA19091.hp1 | a0151 | a0151c0088 | a0151c0088t0001 | a0151c0088t0001g0071 | 1 | 249 | 0.0040 | 2352 | c.390 others(2361): Show |
p.Thr others(2367): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2345): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(15): Show |
a0003a0011a0124others(2): Show | a0003c0002a0003c0038a0003c0096others(10): Show | a0003c0002t0001a0003c0038t0001a0003c0096t0001others(10): Show | a0003c0002t0001g0002 a0003c0002t0001g0120 a0003c0002t0001g0128 others(14): Show |
18 | 249 | 0.0723 | 2352 | c.381 others(2361): Show |
p.Ser others(2367): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2345): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp2 HG02004.hp1 HG02083.hp2 others(1): Show |
a0018a0066a0071 | a0018c0080a0018c0081a0066c0049others(1): Show | a0018c0080t0001a0018c0081t0001a0066c0049t0001others(1): Show | a0018c0080t0001g0202 a0018c0081t0001g0200 a0066c0049t0001g0203 others(1): Show |
4 | 249 | 0.0161 | 2352 | c.381 others(2361): Show |
p.Ser others(2367): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2345): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0136 | 1 | 320 | 0.0031 | 2352 | c.356 others(2367): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954478 | G | GTGGGGAG others(2345): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0066 | 1 | 126 | 0.0079 | 2352 | c.-28 others(2371): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CACCACAG others(2346): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0130 | 1 | 368 | 0.0027 | 2353 | c.401 others(2370): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(2346): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0034 | a0002c0005t0034g0251 | 1 | 368 | 0.0027 | 2353 | c.401 others(2370): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647405 | T | TCCTCCTC others(2346): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 276 | 0.0036 | 2353 | c.*52 others(2364): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2061 | chr15 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2346): Show |
frameshift_variant | HIGH | NA19011.hp1 | a0142 | a0142c0079 | a0142c0079t0001 | a0142c0079t0001g0201 | 1 | 249 | 0.0040 | 2353 | c.381 others(2362): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2346): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 216 | 0.0046 | 2353 | c.801 others(2370): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2346): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0096 | a0096c0086 | a0096c0086t0005 | a0096c0086t0005g0077 | 1 | 216 | 0.0046 | 2353 | c.801 others(2370): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133421497 | A | ACTTCCTC others(2347): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 276 | 0.0036 | 2354 | c.489 others(2373): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318241 | G | GAAGGGGG others(2347): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0096 | a0096c0045 | a0096c0045t0001 | a0096c0045t0001g0091 | 1 | 186 | 0.0054 | 2354 | c.723 others(2371): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121192798 | T | TGGTTCAA others(2347): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0027 | a0027c0032 | a0027c0032t0002 | a0027c0032t0002g0202 | 1 | 366 | 0.0027 | 2354 | c.*79 others(2365): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 4767 | chr12 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2347): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0030 | a0002c0030t0005 | a0002c0030t0005g0094 | 1 | 116 | 0.0086 | 2354 | c.199 others(2373): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111326433 | T | TGTTTATA others(2348): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 100 | 0.0100 | 2355 | c.292 others(2374): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2348): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 390 | 0.0051 | 2355 | c.972 others(2368): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACCACC others(2348): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 314 | 0.0032 | 2355 | c.-25 others(2372): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NHLRC1_chr6_18115440_18127677 | 18115463 | A | AGACCAGG others(2348): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0000 | 1 | 468 | 0.0021 | 2355 | c.*59 others(2366): Show |
NHLRC1 | ENSG00000187566.6 | transcript | ENST00000340650.6 | protein_coding | 4976 | chr6 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2348): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 216 | 0.0046 | 2355 | c.801 others(2372): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2348): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19066.hp1 |
a0001a0091 | a0001c0001a0091c0066 | a0001c0001t0001a0091c0066t0003 | a0001c0001t0001g0067 a0091c0066t0003g0051 |
2 | 216 | 0.0093 | 2355 | c.801 others(2372): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2348): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 375 | 0.0027 | 2355 | c.*44 others(2366): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(2348): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 373 | 0.0027 | 2355 | c.115 others(2372): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(2348): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 246 | 0.0041 | 2355 | c.-10 others(2372): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2349): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0240 | 1 | 432 | 0.0023 | 2356 | c.103 others(2373): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2349): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 116 | 0.0086 | 2356 | c.522 others(2373): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2349): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 116 | 0.0086 | 2356 | c.522 others(2373): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NHLRC1_chr6_18115440_18127677 | 18115463 | A | AGACCAGG others(2349): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0000 | 1 | 468 | 0.0021 | 2356 | c.*59 others(2367): Show |
NHLRC1 | ENSG00000187566.6 | transcript | ENST00000340650.6 | protein_coding | 4976 | chr6 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2349): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 216 | 0.0046 | 2356 | c.801 others(2373): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2349): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 320 | 0.0031 | 2356 | c.356 others(2371): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2349): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 320 | 0.0031 | 2356 | c.356 others(2371): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2350): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03834.hp2 NA18944.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0003 a0002c0002t0003g0084 a0002c0002t0003g0085 others(2): Show |
12 | 390 | 0.0308 | 2357 | c.109 others(2372): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469994 | G | GGGAGGAG others(2350): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 104 | 0.0096 | 2357 | c.354 others(2376): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2350): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 301 | 0.0033 | 2357 | c.-11 others(2368): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2350): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0087 | a0087c0116 | a0087c0116t0001 | a0087c0116t0001g0152 | 1 | 186 | 0.0054 | 2357 | c.723 others(2374): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2350): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 294 | 0.0034 | 2357 | c.515 others(2374): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2350): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 62 | 0.0161 | 2357 | c.*13 others(2370): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073257 | C | CAGCCCCA others(2350): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0025 | 1 | 118 | 0.0085 | 2357 | c.224 others(2374): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2350): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 373 | 0.0027 | 2357 | c.115 others(2374): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2350): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 320 | 0.0031 | 2357 | c.356 others(2372): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2350): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 320 | 0.0031 | 2357 | c.356 others(2372): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2350): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0089 |
2 | 320 | 0.0063 | 2357 | c.356 others(2372): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2350): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01975.hp1 HG01975.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0035 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0045 others(11): Show |
14 | 320 | 0.0438 | 2357 | c.356 others(2372): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2350): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 320 | 0.0031 | 2357 | c.356 others(2372): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |