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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(1018): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0035 | a0035c0084 | a0035c0084t0001 | a0035c0084t0001g0169 | 1 | 186 | 0.0054 | 1025 | c.956 others(1042): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(1018): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0200 | 1 | 278 | 0.0036 | 1025 | c.115 others(1042): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331363 | A | ATACAATA others(1018): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0139 | 1 | 296 | 0.0034 | 1025 | c.240 others(1042): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(1018): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(24): Show |
a0001a0002a0010 | a0001c0005a0001c0007a0001c0012others(2): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(7): Show | a0001c0005t0001g0040a0001c0005t0001g0159a0001c0005t0001g0228others(23): Show | 27 | 296 | 0.0912 | 1025 | c.240 others(1042): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(1018): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18953.hp2 NA19054.hp1 |
a0001a0003 | a0001c0005a0003c0018 | a0001c0005t0001a0003c0018t0001 | a0001c0005t0001g0237a0003c0018t0001g0140a0003c0018t0001g0155 | 3 | 296 | 0.0101 | 1025 | c.240 others(1042): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(1018): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0229 | 1 | 296 | 0.0034 | 1025 | c.240 others(1042): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(1018): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19090.hp1 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0002a0002c0006t0003 | a0001c0005t0002g0122a0002c0006t0003g0246 | 2 | 296 | 0.0068 | 1025 | c.240 others(1042): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1018): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02293.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0163a0003c0004t0001g0238 | 2 | 308 | 0.0065 | 1025 | c.371 others(1042): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1018): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025a0002c0002t0001g0119a0002c0002t0001g0246 | 3 | 334 | 0.0090 | 1025 | c.45- others(1040): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1018): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 NA19056.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0001 | a0001c0001t0004g0121a0001c0001t0005g0095a0001c0002t0001g0099 | 3 | 160 | 0.0188 | 1025 | c.389 others(1046): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0003 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0127 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0004a0002c0017t0001 | a0001c0001t0004g0164a0002c0017t0001g0050 | 2 | 180 | 0.0111 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0002 | a0001c0001t0006g0033a0002c0004t0002g0032 | 2 | 180 | 0.0111 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0117 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0005a0001c0019 | a0001c0001t0001a0001c0005t0007a0001c0019t0003 | a0001c0001t0001g0124a0001c0005t0007g0024a0001c0019t0003g0002 | 3 | 180 | 0.0167 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0003a0002c0004t0007 | a0001c0005t0003g0067a0002c0004t0007g0115 | 2 | 180 | 0.0111 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0159 | 1 | 180 | 0.0056 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1018): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0156 | 2 | 180 | 0.0111 | 1025 | c.148 others(1044): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246072066 | G | GTTAGTTC others(1018): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0123 | 1 | 150 | 0.0067 | 1025 | c.532 others(1046): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1018): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 268 | 0.0037 | 1025 | c.*73 others(1036): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41475639 | A | AGTGAGGG others(1018): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01358.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0006 | 2 | 382 | 0.0052 | 1025 | c.727 others(1040): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CCCCACAC others(1018): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 338 | 0.0030 | 1025 | c.*35 others(1044): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(1019): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01934.hp2 HG01943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0223a0001c0001t0004g0256a0001c0001t0004g0316others(7): Show | 10 | 337 | 0.0297 | 1026 | c.61+ others(1041): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289451 | T | TCCCGTGT others(1019): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 295 | 0.0034 | 1026 | c.*41 others(1037): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2939 | chr1 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(1019): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073a0001c0001t0002g0074 | 2 | 346 | 0.0058 | 1026 | c.116 others(1043): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60349889 | A | AGAAGGCA others(1019): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 334 | 0.0030 | 1026 | c.838 others(1041): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349903 | C | CAGGGGAA others(1019): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 334 | 0.0030 | 1026 | c.838 others(1041): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(1019): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 334 | 0.0030 | 1026 | c.838 others(1041): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350065 | C | CAGGGGAA others(1019): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 334 | 0.0030 | 1026 | c.838 others(1041): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1019): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092a0001c0001t0002g0176 | 2 | 238 | 0.0084 | 1026 | c.787 others(1041): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(1019): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0137 | 1 | 168 | 0.0060 | 1026 | c.318 others(1045): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007 | 2 | 318 | 0.0063 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG02155.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0069a0001c0001t0001g0074a0001c0001t0001g0099others(1): Show | 4 | 318 | 0.0126 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG02280.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0007c0017t0001 | a0001c0001t0001g0084a0001c0001t0001g0096a0001c0001t0001g0134others(2): Show | 5 | 318 | 0.0157 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0155 | 2 | 318 | 0.0063 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18977.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0094a0001c0016t0001g0302 | 2 | 318 | 0.0063 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 318 | 0.0031 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229 | 1 | 318 | 0.0031 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 318 | 0.0031 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1019): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0253 | 1 | 318 | 0.0031 | 1026 | c.285 others(1045): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60467270 | G | GTGGTGGT others(1019): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 262 | 0.0038 | 1026 | c.487 others(1043): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1019): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 326 | 0.0031 | 1026 | c.327 others(1043): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(1019): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0018 | a0018c0045 | a0018c0045t0002 | a0018c0045t0002g0167 | 1 | 284 | 0.0035 | 1026 | c.411 others(1043): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61353603 | A | ACTGCCTT others(1019): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 106 | 0.0094 | 1026 | c.169 others(1045): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366229 | G | GTGGGAAG others(1019): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0047 | a0047c0063 | a0047c0063t0003 | a0047c0063t0003g0099 | 1 | 104 | 0.0096 | 1026 | c.830 others(1043): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1019): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0049 | 1 | 236 | 0.0042 | 1026 | c.342 others(1047): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |