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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL18_chr3_47277944_47351816 | 47316723 | G | GTGTATAT others(93): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 330 | 0.0030 | 100 | c.130 others(117): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(93): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0088 a0001c0001t0010g0055 |
2 | 38 | 0.0526 | 100 | c.180 others(119): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(93): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 37 | 0.0270 | 100 | c.180 others(119): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(93): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0058 |
2 | 38 | 0.0526 | 100 | c.180 others(119): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69721062 | G | GATATATA others(93): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 37 | 0.0270 | 100 | c.180 others(119): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
KLHL25_chr15_85754326_85799925 | 85757581 | T | TCCTCCTC others(93): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0337 | 1 | 33 | 0.0303 | 100 | c.*34 others(111): Show |
KLHL25 | ENSG00000183655.13 | transcript | ENST00000337975.6 | protein_coding | 1744 | chr15 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183534073 | C | CCTTTAAA others(93): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0104a0003c0009t0016 | a0001c0001t0104g0059 a0003c0009t0016g0003 a0003c0009t0016g0069 others(1): Show |
5 | 138 | 0.0362 | 100 | c.294 others(117): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562376 | T | TATATATA others(93): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 420 | 0.0024 | 100 | c.-10 others(111): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1063 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30743599 | T | TATATATA others(93): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 280 | 0.0071 | 100 | c.*33 others(111): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 3194 | chr21 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117606501 | C | CCTCCTTC others(93): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0043a0001c0002t0001a0001c0002t0002others(31): Show | a0001c0001t0043g0017 a0001c0002t0001g0112 a0001c0002t0002g0108 others(37): Show |
40 | 104 | 0.3846 | 100 | c.117 others(121): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129200253 | T | TACACGTG others(93): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0005 | a0005c0042 | a0005c0042t0002 | a0005c0042t0002g0007 | 1 | 65 | 0.0154 | 100 | c.178 others(119): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(93): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0005a0001c0007others(23): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(25): Show | a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0121 others(34): Show |
37 | 122 | 0.3033 | 100 | c.450 others(117): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360602 | G | GTGGGTGG others(93): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0084 | 1 | 86 | 0.0116 | 100 | c.450 others(117): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360614 | A | ATGGATAG others(93): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0160 | 1 | 120 | 0.0083 | 100 | c.450 others(117): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LASP1NB_chr17_38920614_38934381 | 38930756 | G | GCGGGGGA others(93): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 |
71 | 410 | 0.1732 | 100 | c.*44 others(111): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 1376 | chr17 | TogoVar | |||||||
LASP1NB_chr17_38920614_38934381 | 38930762 | G | GAGCTGAC others(93): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01516.hp2 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 390 | 0.0205 | 100 | c.*44 others(111): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 1382 | chr17 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769256 | A | ACCCCTCC others(93): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 322 | 0.0031 | 100 | c.-47 others(111): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4739 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769290 | A | ACCCCCCC others(93): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 309 | 0.0032 | 100 | c.-48 others(111): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4773 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769432 | T | TCCCCCCC others(93): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 254 | 0.0039 | 100 | c.-49 others(111): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4915 | chr9 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507279 | T | TGGGGGGG others(93): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 235 | 0.0043 | 100 | c.624 others(117): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIG4_chr13_108202442_108220536 | 108215427 | C | CCTCCCAA others(93): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0053 | 1 | 2 | 0.5000 | 100 | c.-10 others(115): Show |
LIG4 | ENSG00000174405.15 | transcript | ENST00000442234.6 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
LIG4_chr13_108202442_108220536 | 108215427 | C | CCTCCCAA others(93): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0054 | 1 | 2 | 0.5000 | 100 | c.-10 others(115): Show |
LIG4 | ENSG00000174405.15 | transcript | ENST00000442234.6 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
LIN28B_chr6_104952107_105088332 | 105023557 | A | ATATATTA others(93): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 31 | 0.0323 | 100 | c.199 others(117): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023557 | A | ATATATTA others(93): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 31 | 0.0323 | 100 | c.199 others(117): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023557 | A | ATATATTA others(93): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 31 | 0.0323 | 100 | c.199 others(117): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189601 | G | GAGGGAGG others(93): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 37 | 0.0270 | 100 | c.-36 others(121): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LIPM_chr10_88797730_88825546 | 88808910 | C | CATTTTAT others(93): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 31 | 0.0323 | 100 | c.265 others(115): Show |
LIPM | ENSG00000173239.14 | transcript | ENST00000404743.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(93): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 88 | 0.0114 | 100 | c.171 others(117): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 198004926 | T | TATCTATA others(93): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 256 | 0.0039 | 100 | c.131 others(119): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMO2_chr11_33853576_33897076 | 33880162 | C | CATGATAT others(93): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0355 | 1 | 121 | 0.0083 | 100 | c.-27 others(119): Show |
LMO2 | ENSG00000135363.12 | transcript | ENST00000257818.3 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LOC122319696_chrX_149409877_149420506 | 149418487 | A | ATATATAT others(93): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 106 | 0.0189 | 100 | c.-30 others(111): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2982 | chrX | TogoVar | |||||||
LOC122319696_chrX_149409877_149420506 | 149418487 | A | ATATATAT others(93): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(114): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0002g0009 others(3): Show |
117 | 221 | 0.5294 | 100 | c.-30 others(111): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2982 | chrX | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323504 | C | CAGGGCAG others(93): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp2 HG02040.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0040 others(17): Show |
20 | 302 | 0.0662 | 100 | c.10- others(115): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323526 | G | GGGCAGGG others(93): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0147 |
2 | 366 | 0.0055 | 100 | c.10- others(115): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323579 | A | AAGCCCAG others(93): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 179 | 0.0056 | 100 | c.10- others(115): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11494117 | G | GGGGGCGG others(93): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0037 | a0037c0011 | a0037c0011t0001 | a0037c0011t0001g0173 | 1 | 260 | 0.0038 | 100 | c.143 others(117): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LOXHD1_chr18_46472273_46662220 | 46546293 | T | TACTCCAT others(93): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0260 | 1 | 268 | 0.0037 | 100 | c.351 others(117): Show |
LOXHD1 | ENSG00000167210.17 | transcript | ENST00000642948.1 | protein_coding | 22/40 | chr18 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483711 | A | AAGGAACA others(93): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0213 | 1 | 384 | 0.0026 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483728 | T | TTAACATC others(93): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0089 a0001c0001t0004g0044 |
2 | 364 | 0.0055 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483728 | T | TTAACATC others(93): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0042 | 1 | 363 | 0.0028 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | G | AAGCTGGA others(93): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0360 |
2 | 214 | 0.0093 | 100 | c.668 others(112): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | G | GAGCTGGA others(93): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0089 a0001c0001t0002g0187 a0001c0001t0002g0345 others(24): Show |
28 | 240 | 0.1167 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483742 | G | GAGCTGGA others(93): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 213 | 0.0047 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483778 | A | ATAACATT others(93): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 a0001c0001t0005g0263 |
2 | 378 | 0.0053 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483787 | C | CGCACGAG others(93): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 384 | 0.0026 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LPCAT1_chr5_1456427_1528960 | 1483936 | G | GCGCACCA others(93): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 | 1 | 384 | 0.0026 | 100 | c.668 others(115): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 5/13 | chr5 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150660238 | C | CGTCCGGG others(93): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 a0001c0001t0002g0121 |
2 | 62 | 0.0323 | 100 | c.592 others(121): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRFN5_chr14_41601876_41909549 | 41826848 | T | TAATAAGT others(93): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0095 others(31): Show |
34 | 143 | 0.2378 | 100 | c.-20 others(119): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283477 | T | TTACTACA others(93): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03195.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0010 | a0001c0004t0002g0257 a0002c0002t0010g0051 |
2 | 292 | 0.0068 | 100 | c.368 others(117): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC14B_chr5_186495_201334 | 194146 | A | ACTGTCCT others(93): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(162): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0019 others(34): Show |
165 | 432 | 0.3819 | 100 | c.900 others(115): Show |
LRRC14B | ENSG00000185028.4 | transcript | ENST00000328278.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |