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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1061): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 50 | 0.0200 | 1068 | c.*24 others(1079): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1061): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 149 | 0.0067 | 1068 | c.129 others(1085): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1061): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 149 | 0.0067 | 1068 | c.129 others(1085): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241674957 | T | TCCCTCCT others(1061): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 236 | 0.0042 | 1068 | c.483 others(1083): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501492 | C | CATCCCGC others(1061): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0308 | 1 | 271 | 0.0037 | 1068 | c.268 others(1087): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345208 | G | GCGGGGGG others(1062): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0007 | a0007c0007t0035 | a0007c0007t0035g0228 | 1 | 263 | 0.0038 | 1069 | c.62+ others(1084): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1062): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0011g0141 |
3 | 5 | 0.6000 | 1069 | c.787 others(1084): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(1062): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0004 | a0001c0001t0001g0302 a0001c0001t0009g0053 a0001c0001t0009g0228 others(3): Show |
6 | 218 | 0.0275 | 1069 | c.-13 others(1088): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0050 | a0005c0050t0001 | a0005c0050t0001g0047 | 1 | 8 | 0.1250 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 NA19240.hp1 |
a0001a0017a0045 | a0001c0010a0017c0034a0045c0095 | a0001c0010t0007a0017c0034t0001a0045c0095t0001 | a0001c0010t0007g0015 a0017c0034t0001g0076 a0045c0095t0001g0040 |
3 | 10 | 0.3000 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1062): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0037 | a0037c0062 | a0037c0062t0001 | a0037c0062t0001g0245 | 1 | 8 | 0.1250 | 1069 | c.328 others(1086): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135097 | G | GCTCCTCC others(1062): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 250 | 0.0080 | 1069 | c.*41 others(1080): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1496 | chr12 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137379038 | G | GGCCGAGG others(1062): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0066 | 1 | 80 | 0.0125 | 1069 | c.120 others(1086): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1319737 | A | ATGGTGGC others(1062): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02630.hp2 others(4): Show |
a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 7 | 347 | 0.0202 | 1069 | c.*58 others(1080): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4980 | chr6 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(1062): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 1069 | c.*50 others(1080): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 147 | 0.0068 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 147 | 0.0068 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1062): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0013a0001c0002t0008 | a0001c0001t0006g0012 a0001c0001t0013g0010 a0001c0002t0008g0011 |
3 | 149 | 0.0201 | 1069 | c.193 others(1088): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1062): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 NA20129.hp1 |
a0004a0070a0079 | a0004c0079a0070c0081a0079c0077 | a0004c0079t0001a0070c0081t0001a0079c0077t0001 | a0004c0079t0001g0095 a0070c0081t0001g0016 a0079c0077t0001g0168 |
3 | 104 | 0.0288 | 1069 | c.252 others(1088): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1062): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03579.hp2 |
a0030a0071 | a0030c0051a0030c0052a0071c0050 | a0030c0051t0001a0030c0052t0001a0071c0050t0001 | a0030c0051t0001g0071 a0030c0052t0001g0106 a0071c0050t0001g0081 |
3 | 104 | 0.0288 | 1069 | c.252 others(1088): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0253 | 1 | 116 | 0.0086 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show |
31 | 146 | 0.2123 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show |
5 | 120 | 0.0417 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0003g0041 others(2): Show |
5 | 120 | 0.0417 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1062): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 116 | 0.0086 | 1069 | c.310 others(1086): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGAA others(1062): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0095 | 1 | 2 | 0.5000 | 1069 | c.162 others(1088): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1062): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 315 | 0.0032 | 1069 | c.115 others(1086): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(1063): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0322 | 1 | 202 | 0.0050 | 1070 | c.61+ others(1085): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1063): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 52 | 0.0192 | 1070 | c.927 others(1087): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1063): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 10 | 0.1000 | 1070 | c.327 others(1087): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1063): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 10 | 0.1000 | 1070 | c.327 others(1087): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185978 | C | CGGGGTGT others(1063): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0007 | a0007c0004 | a0007c0004t0004 | a0007c0004t0004g0020 | 1 | 336 | 0.0030 | 1070 | c.300 others(1087): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186074 | C | CGGGGTGT others(1063): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0074 | a0074c0103 | a0074c0103t0001 | a0074c0103t0001g0061 | 1 | 336 | 0.0030 | 1070 | c.300 others(1087): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1063): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0217 | 1 | 177 | 0.0056 | 1070 | c.342 others(1091): 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(1063): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 177 | 0.0056 | 1070 | c.342 others(1091): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1063): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0017 | a0017c0034 | a0017c0034t0001 | a0017c0034t0001g0140 | 1 | 8 | 0.1250 | 1070 | c.328 others(1087): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1063): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 8 | 0.1250 | 1070 | c.328 others(1087): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CH25H_chr10_89200629_89212317 | 89204838 | T | TGGATTTC others(1063): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 382 | 0.0026 | 1070 | c.*16 others(1081): Show |
CH25H | ENSG00000138135.7 | transcript | ENST00000371852.4 | protein_coding | 790 | chr10 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110481833 | T | TGCTGGAG others(1063): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 |
a0002 | a0002c0054a0002c0056 | a0002c0054t0045a0002c0056t0004 | a0002c0054t0045g0233 a0002c0056t0004g0266 |
2 | 368 | 0.0054 | 1070 | c.275 others(1087): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1063): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0185 | 1 | 13 | 0.0769 | 1070 | c.109 others(1089): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1063): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 13 | 0.0769 | 1070 | c.109 others(1089): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(1063): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0210 | 1 | 137 | 0.0073 | 1070 | c.724 others(1089): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(1063): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 | 1 | 145 | 0.0069 | 1070 | c.86- others(1083): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716082 | G | GTGGTGGG others(1063): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 145 | 0.0069 | 1070 | c.86- others(1083): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322045 | A | AAAAAAAA others(1063): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 151 | 0.0066 | 1070 | c.-32 others(1081): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3250 | chrX | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120118 | G | GGGAGAGG others(1063): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0209 | 1 | 326 | 0.0031 | 1070 | c.353 others(1087): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349830 | G | GTGAATGG others(1063): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 130 | 0.0077 | 1070 | c.*54 others(1081): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1553 | chr19 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(1063): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0013 | 1 | 117 | 0.0085 | 1070 | c.450 others(1087): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13262129 | C | CGTGGGGG others(1063): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0092 | 1 | 135 | 0.0074 | 1070 | c.-46 others(1091): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCGCTTAC others(1063): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0025 | 1 | 6 | 0.1667 | 1070 | c.368 others(1087): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar |