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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL38_chr8_123639442_123658801 | 123650499 | ATTGCTGG others(22): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0105 | 1 | 446 | 0.0022 | -29 | c.135 others(48): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183534103 | TTAAAAGT others(22): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0002 | a0002c0007 | a0002c0007t0013a0002c0007t0090 | a0002c0007t0013g0077a0002c0007t0090g0068 | 2 | 298 | 0.0067 | -29 | c.294 others(46): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
KLK3_chr19_50849915_50865764 | 50865302 | TTTTCTTT others(22): Show |
T | downstream_gene_variant | MODIFIER | NA18949.hp2 NA18967.hp2 NA20905.hp2 |
a0001a0002 | a0001c0007a0002c0003 | a0001c0007t0001a0002c0003t0004 | a0001c0007t0001g0022a0002c0003t0004g0009 | 3 | 462 | 0.0065 | -29 | c.*51 others(40): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 4539 | chr19 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152290280 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0029 | 1 | 172 | 0.0058 | -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 |
a0002a0008a0011 | a0002c0003a0008c0012a0011c0015 | a0002c0003t0001a0008c0012t0001a0011c0015t0001 | a0002c0003t0001g0272a0002c0003t0001g0275a0002c0003t0001g0277others(7): Show | 10 | 320 | 0.0313 | -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 | 425 | 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 | 451 | 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 | a0001c0001t0002g0110 | 1 | 370 | 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 | a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 1 | 423 | 0.0024 | -29 | c.-36 others(40): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3660 | chr17 | TogoVar | ||||||
KRTAP5-5_chr11_1624775_1635930 | 1630158 | GGGGGCCT others(22): Show |
G | frameshift_variant | HIGH | NA18968.hp2 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0000 | 1 | 445 | 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 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 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 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0000 | 1 | 445 | 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 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 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 | a0001c0001t0014a0001c0004t0014 | a0001c0001t0014g0066a0001c0004t0014g0070 | 2 | 196 | 0.0102 | -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 | a0001c0001t0137 | a0001c0001t0137g0082 | 1 | 196 | 0.0051 | -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 | a0001c0001t0003g0007a0001c0004t0003g0003a0001c0004t0003g0005others(1): Show | 4 | 314 | 0.0127 | -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 |
a0001a0009 | a0001c0001a0001c0009a0009c0014 | a0001c0001t0003a0001c0009t0001a0009c0014t0001 | a0001c0001t0003g0022a0001c0009t0001g0084a0001c0009t0001g0086others(1): Show | 4 | 314 | 0.0127 | -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 | a0001c0001t0001g0050a0001c0004t0001g0046a0001c0007t0001g0048 | 3 | 283 | 0.0106 | -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 |
a0017a0023a0025 | a0017c0071a0023c0014a0025c0032 | a0017c0071t0005a0023c0014t0005a0025c0032t0005 | a0017c0071t0005g0050a0023c0014t0005g0062a0025c0032t0005g0048 | 3 | 88 | 0.0341 | -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 | a0032 | a0032c0026 | a0032c0026t0001 | a0032c0026t0001g0152 | 1 | 280 | 0.0036 | -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 | a0003c0003t0002g0324a0003c0003t0005g0017a0003c0003t0005g0322others(6): Show | 10 | 354 | 0.0283 | -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 | a0003c0003t0005g0319a0003c0003t0005g0320a0003c0003t0005g0325others(1): Show | 4 | 354 | 0.0113 | -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 | a0001c0002t0003g0134a0001c0002t0003g0163a0003c0005t0005g0298 | 3 | 352 | 0.0085 | -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 | a0001c0001t0002g0088a0001c0001t0003g0050a0001c0001t0005g0076others(3): Show | 6 | 110 | 0.0546 | -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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018 | 3 | 288 | 0.0104 | -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 | a0001c0001t0002g0201a0001c0001t0002g0207 | 2 | 316 | 0.0063 | -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 | a0002c0034t0035g0027 | 1 | 316 | 0.0032 | -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 | a0003c0007t0008g0047 | 1 | 316 | 0.0032 | -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 | a0001c0010t0001g0056 | 1 | 316 | 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 | a0001c0001t0003g0041 | 1 | 422 | 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 | 396 | 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 | 368 | 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 | 292 | 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 | a0001c0003a0006c0007a0010c0014others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0025others(4): Show | a0001c0003t0001g0239a0001c0003t0003g0214a0001c0003t0003g0215others(23): Show | 27 | 292 | 0.0925 | -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 | a0001c0003a0010c0014a0015c0015 | a0001c0003t0003a0010c0014t0015a0015c0015t0003 | a0001c0003t0003g0260a0001c0003t0003g0261a0001c0003t0003g0267others(4): Show | 7 | 292 | 0.0240 | -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 | 292 | 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 | 292 | 0.0034 | -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 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0072 | 1 | 400 | 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 | a0001c0001t0004g0032a0001c0001t0004g0216 | 4 | 454 | 0.0088 | -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(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(5): Show | 61 | 421 | 0.1449 | -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 | a0001c0001t0001g0412 | 1 | 420 | 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 | 410 | 0.0024 | -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 | a0001c0001t0003g0078a0001c0001t0003g0079a0001c0001t0005g0077others(2): Show | 6 | 402 | 0.0149 | -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 | a0034 | a0034c0036 | a0034c0036t0001 | a0034c0036t0001g0003 | 1 | 434 | 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 | a0001c0001t0018g0120a0001c0001t0018g0121a0001c0002t0022g0122 | 3 | 348 | 0.0086 | -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 | a0001c0001t0026g0013 | 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 | a0001c0001t0001g0048a0001c0001t0003g0034a0001c0001t0004g0022 | 3 | 62 | 0.0484 | -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 | a0001c0001t0002g0045a0001c0001t0007g0006 | 2 | 62 | 0.0323 | -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 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0108others(42): Show | 46 | 384 | 0.1198 | -29 | c.-1- others(42): Show |
LIPA | ENSG00000107798.18 | transcript | ENST00000336233.10 | protein_coding | 1/9 | chr10 | TogoVar |