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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP5-5_chr11_1624775_1635930 | 1628405 | TGTATCAG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02572.hp2 others(3): Show |
a0001a0004 | a0001c0007a0004c0004 | a0001c0007t0001a0004c0004t0001 | a0001c0007t0001g0000 a0004c0004t0001g0000 |
6 | 445 | 0.0135 | -44 | c.-14 others(55): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1369 | chr11 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117740465 | ATATGTAA others(37): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0070a0001c0001t0078a0001c0003t0139 | a0001c0001t0070g0051 a0001c0001t0078g0072 a0001c0003t0139g0136 |
3 | 196 | 0.0153 | -44 | c.986 others(63): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54509747 | CTGTGATG others(37): Show |
C | intron_variant | MODIFIER | HG03490.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0105 a0002c0002t0001g0090 |
2 | 475 | 0.0042 | -44 | c.415 others(59): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129206106 | GAGGAAGG others(37): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02572.hp2 others(5): Show |
a0002a0003a0007others(3): Show | a0002c0029a0003c0044a0007c0007others(5): Show | a0002c0029t0002a0003c0044t0003a0007c0007t0002others(5): Show | a0002c0029t0002g0064 a0003c0044t0003g0020 a0007c0007t0002g0081 others(5): Show |
8 | 88 | 0.0909 | -44 | c.178 others(65): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112190911 | CTTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 314 | 0.0032 | -44 | c.718 others(59): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33541032 | TGGTGGCT others(37): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0078 others(6): Show |
9 | 110 | 0.0818 | -44 | c.787 others(63): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33541036 | GGCTGGGG others(37): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0081 | 1 | 110 | 0.0091 | -44 | c.787 others(63): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007664 | GTGTGTAT others(37): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03209.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0048 a0003c0005t0002g0049 |
2 | 316 | 0.0063 | -44 | c.343 others(63): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LBHD2_chr14_103079210_103095027 | 103082401 | TGGTGGAC others(37): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 432 | 0.0023 | -44 | c.-19 others(55): Show |
LBHD2 | ENSG00000283071.1 | transcript | ENST00000634353.1 | protein_coding | 1808 | chr14 | TogoVar | |||||||
LBHD2_chr14_103079210_103095027 | 103083092 | GATTGTGG others(37): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0031 | 1 | 432 | 0.0023 | -44 | c.-12 others(55): Show |
LBHD2 | ENSG00000283071.1 | transcript | ENST00000634353.1 | protein_coding | 1117 | chr14 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170290970 | AAGAAAGA others(37): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0124 a0001c0002t0006g0125 |
2 | 384 | 0.0052 | -44 | c.141 others(61): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 2/20 | chr5 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568859 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0219 |
2 | 434 | 0.0046 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2862 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568861 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0006t0001 | a0001c0001t0007g0091 a0001c0006t0001g0073 |
2 | 434 | 0.0046 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2864 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568863 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 434 | 0.0023 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2866 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568865 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 434 | 0.0023 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2868 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568867 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01167.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(3): Show |
9 | 434 | 0.0207 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2870 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568869 | CACACACA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0036 |
5 | 434 | 0.0115 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2872 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568885 | TATATATA others(37): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 434 | 0.0023 | -44 | c.-30 others(55): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2888 | chr15 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16897902 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02300.hp2 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 others(3): Show |
6 | 162 | 0.0370 | -44 | c.132 others(59): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18467926 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG00597.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0322 a0001c0001t0005g0329 |
2 | 420 | 0.0048 | -44 | c.418 others(61): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LEKR1_chr3_156821353_157051129 | 156899603 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 244 | 0.0041 | -44 | c.264 others(63): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LEKR1_chr3_156821353_157051129 | 156899679 | CGCATATA others(37): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0230 | 1 | 244 | 0.0041 | -44 | c.264 others(63): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LGALS16_chr19_39650913_39665647 | 39663855 | TATATATG others(37): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show |
143 | 442 | 0.3235 | -44 | c.*33 others(55): Show |
LGALS16 | ENSG00000249861.4 | transcript | ENST00000392051.4 | protein_coding | 3209 | chr19 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824362 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02897.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0002t0012 | a0001c0001t0003g0070 a0001c0001t0011g0057 a0001c0002t0012g0008 |
3 | 86 | 0.0349 | -44 | c.683 others(63): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39352926 | TGTATATA others(37): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012 | a0001c0001t0010g0220 a0001c0001t0012g0206 |
2 | 242 | 0.0083 | -44 | c.485 others(61): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124457311 | CTCTCTCT others(37): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 260 | 0.0039 | -44 | c.-45 others(55): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 4511 | chr10 | TogoVar | |||||||
LIMD1_chr3_45589751_45691341 | 45594778 | AACACACA others(37): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01993.hp1 NA18944.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0199 | a0001c0001t0050g0060 a0001c0001t0050g0064 a0001c0001t0199g0072 |
3 | 358 | 0.0084 | -44 | c.-79 others(51): Show |
LIMD1 | ENSG00000144791.10 | transcript | ENST00000273317.5 | protein_coding | 1/8 | 36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LINGO2_chr9_27932617_29218601 | 28226626 | GGAAAGAA others(37): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 62 | 0.0161 | -44 | c.-36 others(63): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LIPC_chr15_58426991_58574844 | 58567306 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0042 | 1 | 358 | 0.0028 | -44 | c.138 others(63): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LIPI_chr21_14103813_14215955 | 14106184 | AAAAAAAA others(37): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0079 | 1 | 362 | 0.0028 | -44 | c.*27 others(55): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2628 | chr21 | TogoVar | |||||||
LIPN_chr10_88755020_88784626 | 88761735 | CTATCTAT others(37): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03098.hp1 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0038 a0003c0008t0001g0196 a0003c0008t0001g0197 others(1): Show |
5 | 394 | 0.0127 | -44 | c.108 others(59): Show |
LIPN | ENSG00000204020.6 | transcript | ENST00000404459.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LIPT1_chr2_99149967_99168137 | 99161271 | AAAAAAAA others(37): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0185 a0001c0002t0001g0133 |
2 | 406 | 0.0049 | -44 | c.-1- others(57): Show |
LIPT1 | ENSG00000144182.17 | transcript | ENST00000651691.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326837 | GAAAGAAA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG03540.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0002g0006 |
2 | 376 | 0.0053 | -44 | c.*52 others(55): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4729 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326841 | GAAAGAAA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0251 |
2 | 376 | 0.0053 | -44 | c.*52 others(55): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4725 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326845 | GAAAGAAA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 NA18962.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0119 others(4): Show |
7 | 376 | 0.0186 | -44 | c.*51 others(55): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4721 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326857 | GAAAGAAA others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | 376 | 0.0053 | -44 | c.*51 others(55): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4709 | chr5 | TogoVar | |||||||
LMO3_chr12_16543372_16611162 | 16565983 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG00408.hp2 NA18956.hp1 NA18990.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0043 others(4): Show |
8 | 354 | 0.0226 | -44 | c.207 others(61): Show |
LMO3 | ENSG00000048540.16 | transcript | ENST00000537304.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11499163 | GGGGAGGG others(37): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0054 | a0054c0256 | a0054c0256t0003 | a0054c0256t0003g0184 | 1 | 310 | 0.0032 | -44 | c.124 others(63): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11499168 | GGGGGGAG others(37): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0187 | a0187c0134 | a0187c0134t0002 | a0187c0134t0002g0090 | 1 | 310 | 0.0032 | -44 | c.124 others(63): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 10/66 | chr16 | TogoVar | |||||||
LPAR1_chr9_110868263_111043470 | 110892810 | AAGGAAGG others(37): Show |
A | intron_variant | MODIFIER | HG01167.hp2 NA19062.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003 | a0001c0001t0007g0223 a0001c0002t0003g0123 |
2 | 302 | 0.0066 | -44 | c.794 others(63): Show |
LPAR1 | ENSG00000198121.15 | transcript | ENST00000683809.1 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160576332 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp2 |
a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0114 a0010c0014t0001g0119 |
2 | 148 | 0.0135 | -44 | c.463 others(61): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 28/38 | chr6 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160654006 | TATATATT others(37): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02622.hp2 others(4): Show |
a0002a0006a0024others(1): Show | a0002c0002a0006c0005a0024c0029others(1): Show | a0002c0002t0002a0006c0005t0002a0024c0029t0002others(1): Show | a0002c0002t0002g0009 a0002c0002t0002g0011 a0006c0005t0002g0001 others(4): Show |
7 | 148 | 0.0473 | -44 | c.50- others(59): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 1/38 | chr6 | TogoVar | |||||||
LPA_chr6_160526482_160669275 | 160654054 | TATTATAT others(37): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03209.hp2 |
a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0016 a0009c0010t0002g0017 a0009c0010t0002g0018 |
3 | 148 | 0.0203 | -44 | c.50- others(59): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 1/38 | chr6 | TogoVar | |||||||
LPIN3_chr20_41335821_41365582 | 41342698 | TGAGCAGG others(37): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 404 | 0.0025 | -44 | c.-9+ others(59): Show |
LPIN3 | ENSG00000132793.12 | transcript | ENST00000373257.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150639767 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 180 | 0.0056 | -44 | c.592 others(65): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150639775 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02647.hp2 others(2): Show |
a0001a0019a0022 | a0001c0001a0019c0027a0022c0030 | a0001c0001t0002a0019c0027t0002a0022c0030t0002 | a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0041 others(2): Show |
5 | 180 | 0.0278 | -44 | c.592 others(65): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150658696 | CCTCTCCC others(37): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 180 | 0.0056 | -44 | c.592 others(65): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRFN5_chr14_41601876_41909549 | 41808529 | TGGAGGAA others(37): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0010a0001c0002t0003 | a0001c0001t0007g0093 a0001c0001t0010g0269 a0001c0001t0010g0270 others(1): Show |
4 | 280 | 0.0143 | -44 | c.-21 others(63): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRP12_chr8_104484236_104594258 | 104547564 | TTAATAAT others(37): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 |
3 | 318 | 0.0094 | -44 | c.80- others(61): Show |
LRP12 | ENSG00000147650.12 | transcript | ENST00000276654.10 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
LRP2_chr2_169122109_169367534 | 169299070 | GGAAAGAA others(37): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01192.hp2 others(13): Show |
a0001a0002a0003others(9): Show | a0001c0009a0001c0013a0001c0069others(13): Show | a0001c0009t0001a0001c0013t0001a0001c0069t0007others(13): Show | a0001c0009t0001g0024 a0001c0013t0001g0063 a0001c0069t0007g0100 others(13): Show |
16 | 250 | 0.0640 | -44 | c.428 others(61): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 4/78 | chr2 | TogoVar |