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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KMT2C_chr7_152129925_152441003 | 152290280 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0029 | 1 | 164 | 0.0061 | -29 | c.850 others(48): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02280.hp2 others(7): Show |
a0002a0007a0009 | a0002c0003a0007c0012a0009c0015 | a0002c0003t0001a0007c0012t0001a0009c0015t0001 | a0002c0003t0001g0269 a0002c0003t0001g0272 a0002c0003t0001g0274 others(7): Show |
10 | 11 | 0.9091 | -29 | c.284 others(46): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KRT12_chr17_40856303_40872223 | 40870906 | TCTTGAGA others(22): Show |
T | upstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 424 | 0.0024 | -29 | c.-37 others(40): Show |
KRT12 | ENSG00000187242.6 | transcript | ENST00000251643.5 | protein_coding | 3684 | chr17 | TogoVar | |||||||
KRT20_chr17_40870889_40890242 | 40870906 | TCTTGAGA others(22): Show |
T | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 450 | 0.0022 | -29 | c.*54 others(40): Show |
KRT20 | ENSG00000171431.4 | transcript | ENST00000167588.4 | protein_coding | 4982 | chr17 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52405664 | AAGACAAG others(22): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 368 | 0.0027 | -29 | c.411 others(44): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41105868 | CCGCCCCT others(22): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -29 | c.-36 others(40): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3660 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41105868 | CCGCCCCT others(22): Show |
C | frameshift_variant | HIGH | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -29 | c.482 others(36): Show |
p.Arg others(5): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1/1 | 482/1100 | 482/633 | 161/210 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630158 | GGGGGCCT others(22): Show |
G | frameshift_variant | HIGH | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 444 | 0.0023 | -29 | c.323 others(36): Show |
p.Ala others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 389/1156 | 323/714 | 108/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630188 | GGGGGGCT others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0000 | 1 | 444 | 0.0023 | -29 | c.354 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 420/1156 | 354/714 | 118/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630207 | GGGGGGTC others(22): Show |
G | frameshift_variant | HIGH | NA18976.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 444 | 0.0023 | -29 | c.373 others(36): Show |
p.Ser others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 439/1156 | 373/714 | 125/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630391 | GCCAGTCC others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0000 | 1 | 444 | 0.0023 | -29 | c.552 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 618/1156 | 552/714 | 184/237 | chr11 | TogoVar | |||
KSR2_chr12_117448012_117973990 | 117484250 | CAGAGCAG others(22): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0004t0011 | a0001c0001t0011g0067 a0001c0004t0011g0070 |
2 | 194 | 0.0103 | -29 | c.245 others(46): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 16/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117793751 | TACACCAA others(22): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0082 | 1 | 194 | 0.0052 | -29 | c.473 others(48): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55581745 | TGCTGGTG others(22): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03516.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0007 a0001c0004t0003g0003 a0001c0004t0003g0005 others(1): Show |
4 | 312 | 0.0128 | -29 | c.-31 others(46): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55646431 | CTTTCCTT others(22): Show |
C | intron_variant | MODIFIER | HG06807.hp1 NA18906.hp2 NA18986.hp2 others(1): Show |
a0001a0012 | a0001c0001a0001c0009a0012c0014 | a0001c0001t0003a0001c0009t0001a0012c0014t0001 | a0001c0001t0003g0022 a0001c0009t0001g0082 a0001c0009t0001g0084 others(1): Show |
4 | 312 | 0.0128 | -29 | c.217 others(46): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153859466 | AGGAAGGA others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0001a0001c0007t0001 | a0001c0001t0001g0053 a0001c0004t0001g0049 a0001c0007t0001g0050 |
3 | 281 | 0.0107 | -29 | c.*31 others(40): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2049 | chrX | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129520373 | TAAAAAAA others(22): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03139.hp1 |
a0023a0024a0030 | a0023c0071a0024c0014a0030c0032 | a0023c0071t0005a0024c0014t0005a0030c0032t0005 | a0023c0071t0005g0050 a0024c0014t0005g0063 a0030c0032t0005g0048 |
3 | 5 | 0.6000 | -29 | c.*40 others(40): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3808 | chr6 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23695796 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0026 | a0026c0026 | a0026c0026t0001 | a0026c0026t0001g0152 | 1 | 17 | 0.0588 | -29 | c.294 others(46): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301639 | AAAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0005 | a0003c0003t0002g0286 a0003c0003t0005g0030 a0003c0003t0005g0031 others(6): Show |
10 | 308 | 0.0325 | -29 | c.61+ others(44): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301641 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02622.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0031 a0003c0003t0005g0281 a0003c0003t0005g0282 others(1): Show |
4 | 287 | 0.0139 | -29 | c.61+ others(44): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LANCL2_chr7_55360337_55438737 | 55401521 | TTTTTTTT others(22): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18612.hp1 NA18968.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0003a0003c0005t0005 | a0001c0002t0003g0137 a0001c0002t0003g0165 a0003c0005t0005g0294 |
3 | 350 | 0.0086 | -29 | c.825 others(44): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33531316 | CCCAGCTA others(22): Show |
C | intron_variant | MODIFIER | HG02523.hp2 HG02717.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0088 a0001c0001t0003g0050 a0001c0001t0005g0076 others(3): Show |
6 | 108 | 0.0556 | -29 | c.787 others(48): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARP4B_chr10_804497_936705 | 915692 | TACTCAGG others(22): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03453.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 |
3 | 286 | 0.0105 | -29 | c.-40 others(48): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969694 | AAAAATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA18980.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 a0001c0001t0002g0203 |
2 | 308 | 0.0065 | -29 | c.*51 others(40): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3341 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0034 | a0002c0034t0035 | a0002c0034t0035g0029 | 1 | 201 | 0.0050 | -29 | c.*51 others(40): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969709 | TATATATA others(22): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0049 | 1 | 284 | 0.0035 | -29 | c.*51 others(40): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3326 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21007579 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0054 | 1 | 310 | 0.0032 | -29 | c.343 others(48): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LAX1_chr1_203760183_203781372 | 203769434 | AAAGAAAG others(22): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 416 | 0.0024 | -29 | c.90- others(44): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LBH_chr2_30226534_30265028 | 30252875 | TAGACCTG others(22): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0267 | 1 | 394 | 0.0025 | -29 | c.130 others(46): Show |
LBH | ENSG00000213626.13 | transcript | ENST00000395323.9 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
LCN8_chr9_136749386_136763243 | 136752526 | TTCATGTA others(22): Show |
T | downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -29 | c.*19 others(40): Show |
LCN8 | ENSG00000204001.10 | transcript | ENST00000371688.8 | protein_coding | 1859 | chr9 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17998976 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0244 | 1 | 290 | 0.0034 | -29 | c.154 others(48): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17998978 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(24): Show |
a0001a0006a0010others(2): Show | a0001c0003a0006c0007a0010c0015others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0025others(4): Show | a0001c0003t0001g0239 a0001c0003t0003g0214 a0001c0003t0003g0215 others(23): Show |
27 | 290 | 0.0931 | -29 | c.154 others(48): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17998980 | AAAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG02027.hp1 HG02056.hp1 others(4): Show |
a0001a0010a0015 | a0001c0003a0010c0015a0015c0014 | a0001c0003t0003a0010c0015t0003a0015c0014t0015 | a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0267 others(4): Show |
7 | 289 | 0.0242 | -29 | c.154 others(48): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17998982 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0220 | 1 | 290 | 0.0034 | -29 | c.154 others(48): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LCORL_chr4_17836187_18026755 | 17998986 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0224 | 1 | 265 | 0.0038 | -29 | c.154 others(48): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LDLRAD1_chr1_54002298_54023186 | 54009100 | CACCCAGG others(22): Show |
C | frameshift_variant others(1): Show |
HIGH | HG03017.hp2 | a0004 | a0004c0008 | a0004c0008t0008 | a0004c0008t0008g0066 | 1 | 398 | 0.0025 | -29 | c.471 others(36): Show |
p.Thr others(5): Show |
LDLRAD1 | ENSG00000203985.11 | transcript | ENST00000371360.2 | protein_coding | 6/6 | 573/2376 | 471/618 | 157/205 | chr1 | TogoVar | |||
LDLRAD2_chr1_21807265_21830225 | 21819473 | CTTTATAA others(22): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 a0001c0001t0004g0213 |
4 | 451 | 0.0089 | -29 | c.644 others(46): Show |
LDLRAD2 | ENSG00000187942.12 | transcript | ENST00000344642.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LENG1_chr19_54150161_54164721 | 54150569 | TGCCCAGG others(22): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01069.hp2 HG01071.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show |
60 | 307 | 0.1954 | -29 | c.*51 others(40): Show |
LENG1 | ENSG00000105617.4 | transcript | ENST00000222224.4 | protein_coding | 4591 | chr19 | TogoVar | |||||||
LGMN_chr14_92698809_92753627 | 92719312 | CCGCCGCC others(22): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0408 | 1 | 410 | 0.0024 | -29 | c.139 others(44): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LHB_chr19_49010980_49022091 | 49015868 | CCTGTTTT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -29 | c.*17 others(38): Show |
LHB | ENSG00000104826.15 | transcript | ENST00000649238.3 | protein_coding | 111 | chr19 | TogoVar | |||||||
LHX4_chr1_180225264_180283984 | 180234189 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0005g0096 others(2): Show |
6 | 400 | 0.0150 | -29 | c.76+ others(44): Show |
LHX4 | ENSG00000121454.6 | transcript | ENST00000263726.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
LIAT1_chr17_405325_419666 | 413611 | CCCCGACC others(22): Show |
C | frameshift_variant | HIGH | NA18987.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 432 | 0.0023 | -29 | c.772 others(36): Show |
p.Asp others(5): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 790/1841 | 772/1272 | 258/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIMS2_chr2_127633426_127680530 | 127668685 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0022 | a0001c0001t0018g0120 a0001c0001t0018g0121 a0001c0002t0022g0122 |
3 | 343 | 0.0087 | -29 | c.11+ others(44): Show |
LIMS2 | ENSG00000072163.20 | transcript | ENST00000355119.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
LIMS4_chr2_110440883_110477816 | 110447986 | CAGCTCGA others(22): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 90 | 0.0111 | -29 | c.974 others(44): Show |
LIMS4 | ENSG00000256671.7 | transcript | ENST00000632897.2 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769500 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0036 | 1 | 62 | 0.0161 | -29 | c.-39 others(50): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769502 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0047 a0001c0001t0003g0033 a0001c0001t0004g0021 |
3 | 60 | 0.0500 | -29 | c.-39 others(50): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28769504 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0045 a0001c0001t0007g0006 |
2 | 56 | 0.0357 | -29 | c.-39 others(50): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
LIPA_chr10_89208572_89256775 | 89248439 | TTTATATT others(22): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01069.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0105 a0001c0001t0001g0108 others(41): Show |
46 | 245 | 0.1878 | -29 | c.-1- others(42): Show |
LIPA | ENSG00000107798.18 | transcript | ENST00000336233.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
LIPC_chr15_58426991_58574844 | 58571120 | ACCAAAAG others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(34): Show | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0079 others(210): Show |
213 | 246 | 0.8659 | -29 | c.*22 others(40): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 1277 | chr15 | TogoVar | |||||||
LIPI_chr21_14103813_14215955 | 14106193 | AAAAAAAA others(22): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 NA18968.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002 | a0001c0001t0001g0043 a0001c0001t0008g0023 a0002c0002t0002g0008 |
3 | 329 | 0.0091 | -29 | c.*27 others(40): Show |
LIPI | ENSG00000188992.12 | transcript | ENST00000681601.1 | protein_coding | 2619 | chr21 | TogoVar |