| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KRTAP2-1_chr17_41041541_41052316 | 41050794 | T | TATATATT others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01192.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000a0001c0001t0004g0000 | 17 | 407 | 0.0418 | 30 | c.-35 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3479 | chr17 | TogoVar | ||||||
| KRTAP2-1_chr17_41041541_41052316 | 41050833 | C | CATATATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18957.hp1 NA18963.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 407 | 0.0147 | 30 | c.-35 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3518 | chr17 | TogoVar | ||||||
| KRTAP2-1_chr17_41041541_41052316 | 41050976 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 407 | 0.0025 | 30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3661 | chr17 | TogoVar | ||||||
| KRTAP2-1_chr17_41041541_41052316 | 41051034 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 7 | 407 | 0.0172 | 30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3719 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41050794 | T | TATATATT others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0018others(1): Show | a0001c0001t0002a0002c0003t0001a0003c0018t0002others(1): Show | a0001c0001t0002g0000a0002c0003t0001g0000a0003c0018t0002g0000others(1): Show | 16 | 411 | 0.0389 | 30 | c.*40 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3703 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41050833 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18957.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 4 | 411 | 0.0097 | 30 | c.*40 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3664 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41050976 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 411 | 0.0024 | 30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3521 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41051034 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02572.hp1 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0000 | 7 | 411 | 0.0170 | 30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3463 | chr17 | TogoVar | ||||||
| KRTAP21-2_chr21_30741794_30752259 | 30742110 | T | TCCATATC others(23): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0000 | 1 | 380 | 0.0026 | 30 | c.*48 others(41): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4683 | chr21 | TogoVar | ||||||
| KRTAP3-1_chr17_41003521_41014128 | 41007665 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0000a0001c0001t0008g0000 | 4 | 439 | 0.0091 | 30 | c.*11 others(41): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 855 | chr17 | TogoVar | ||||||
| KRTAP3-1_chr17_41003521_41014128 | 41007667 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 439 | 0.0023 | 30 | c.*11 others(41): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 853 | chr17 | TogoVar | ||||||
| KRTAP4-16_chr17_41096502_41107209 | 41097890 | A | ACAGCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(231): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0000a0001c0002t0000a0001c0009t0000others(10): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0009t0000g0000others(10): Show | 234 | 423 | 0.5532 | 30 | c.*36 others(41): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3611 | chr17 | TogoVar | ||||||
| KRTAP4-8_chr17_41091981_41103142 | 41097890 | A | ACAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0007others(4): Show | a0001c0001a0003c0003a0003c0010others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(11): Show | 235 | 416 | 0.5649 | 30 | c.194 others(37): Show |
p.Cys others(41): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 252/1162 | 194/558 | 65/185 | chr17 | TogoVar | ||
| KRTAP5-10_chr11_71560563_71571735 | 71565863 | G | GGGCTGTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(241): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0005a0003c0003others(8): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(13): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0005g0000others(13): Show | 244 | 468 | 0.5214 | 30 | c.305 others(37): Show |
p.Gly others(43): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 331/1173 | 306/609 | 102/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| KRTAP5-11_chr11_71576855_71587875 | 71579744 | A | ACAGCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(306): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(8): Show | 309 | 464 | 0.6660 | 30 | c.*26 others(41): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 2110 | chr11 | TogoVar | ||||||
| KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp2 others(26): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0000a0005c0005t0001g0000 | 29 | 429 | 0.0676 | 30 | c.*53 others(39): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | ||||||
| KRTAP5-5_chr11_1624775_1635930 | 1629939 | T | TGGCTGTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(16): Show |
a0005a0024 | a0005c0005a0024c0019 | a0005c0005t0004a0024c0019t0004 | a0005c0005t0004g0000a0024c0019t0004g0000 | 19 | 445 | 0.0427 | 30 | c.128 others(37): Show |
p.Gly others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 224/1156 | 158/714 | 53/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| KRTAP5-5_chr11_1624775_1635930 | 1630163 | C | CCTGTGGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG01433.hp1 | a0017 | a0017c0024 | a0017c0024t0009 | a0017c0024t0009g0000 | 1 | 445 | 0.0023 | 30 | c.420 others(37): Show |
p.Gly others(43): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 516/1156 | 450/714 | 150/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| KRTAP5-7_chr11_71522267_71533669 | 71527629 | C | CCTGCTGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0007a0010 | a0001c0001a0007c0007a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(4): Show | 213 | 460 | 0.4630 | 30 | c.366 others(37): Show |
p.Cys others(43): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 1/1 | 430/1403 | 396/498 | 132/165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| KSR1_chr17_27451448_27631435 | 27461859 | C | CTGCCCGC others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0001t0002g0015others(74): Show | 77 | 246 | 0.3130 | 30 | c.231 others(47): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| KSR1_chr17_27451448_27631435 | 27525991 | A | ACTTTTCT others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03471.hp2 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0005t0002a0002c0004t0004 | a0001c0001t0021g0008a0001c0005t0002g0240a0002c0004t0004g0168others(1): Show | 4 | 246 | 0.0163 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| KSR1_chr17_27451448_27631435 | 27526044 | T | TTTCTTTT others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02132.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171a0001c0001t0001g0216a0001c0001t0002g0033others(1): Show | 4 | 246 | 0.0163 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| KSR1_chr17_27451448_27631435 | 27526094 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0072a0001c0001t0017g0012 | 2 | 246 | 0.0081 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| KSR2_chr12_117448012_117973990 | 117452573 | A | ATTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0012 | a0001c0012t0073 | a0001c0012t0073g0071 | 1 | 196 | 0.0051 | 30 | c.*14 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 438 | chr12 | TogoVar | ||||||
| KSR2_chr12_117448012_117973990 | 117607654 | A | AAGGAGAG others(23): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0179 | 1 | 196 | 0.0051 | 30 | c.117 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
| KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0035a0001c0001t0045others(12): Show | a0001c0001t0004g0102a0001c0001t0035g0015a0001c0001t0045g0017others(12): Show | 15 | 196 | 0.0765 | 30 | c.117 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
| KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0008 | a0001c0008t0130 | a0001c0008t0130g0143 | 1 | 196 | 0.0051 | 30 | c.-28 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | ||||||
| KTN1_chr14_55575207_55689579 | 55631341 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA18906.hp2 |
a0001a0009a0010 | a0001c0009a0009c0014a0010c0011 | a0001c0009t0001a0009c0014t0001a0010c0011t0005 | a0001c0009t0001g0084a0009c0014t0001g0172a0010c0011t0005g0173 | 3 | 314 | 0.0096 | 30 | c.122 others(49): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| KTN1_chr14_55575207_55689579 | 55631341 | G | GATTGATA others(23): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 314 | 0.0032 | 30 | c.122 others(49): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| KTN1_chr14_55575207_55689579 | 55646460 | T | TTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0123a0001c0001t0001g0149others(4): Show | 7 | 314 | 0.0223 | 30 | c.217 others(47): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| KYNU_chr2_142872664_143060833 | 142977372 | G | GAGATATA others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0166 | a0001c0001t0166g0211 | 1 | 332 | 0.0030 | 30 | c.730 others(47): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0048others(33): Show | 36 | 332 | 0.1084 | 30 | c.730 others(47): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0026a0002c0002t0001g0053 | 2 | 94 | 0.0213 | 30 | c.120 others(49): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0005a0002c0002t0001a0002c0006t0001 | a0001c0001t0005g0057a0001c0001t0005g0088a0002c0002t0001g0066others(1): Show | 4 | 94 | 0.0426 | 30 | c.119 others(51): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6181707 | T | TGACAAGA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 94 | 0.0106 | 30 | c.982 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6405603 | A | AGCCCGAG others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01192.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0028a0001c0001t0002g0029others(14): Show | 17 | 94 | 0.1809 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6405603 | A | AGCCCGAG others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 94 | 0.0106 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6405616 | A | ACTAAACA others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0005a0002c0002t0001others(1): Show | a0001c0001t0002g0027a0001c0003t0005g0002a0002c0002t0001g0001others(2): Show | 5 | 94 | 0.0532 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 6405653 | A | ACAGGGGC others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0052a0001c0001t0004g0049a0001c0001t0007g0016others(3): Show | 6 | 94 | 0.0638 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879778 | T | TGAGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 456 | 0.0022 | 30 | c.-37 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 125 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18956.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048a0001c0003t0005g0091 | 2 | 456 | 0.0044 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0039 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43897797 | G | GTGTATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0086 | 1 | 456 | 0.0022 | 30 | c.*63 others(41): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 3866 | chr13 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349406 | G | GTGGATGG others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0015others(48): Show | 126 | 462 | 0.2727 | 30 | c.*58 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1977 | chr19 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349415 | G | GGGAGGAC others(23): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01192.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0001g0005a0001c0001t0007g0024a0001c0001t0007g0079others(17): Show | 25 | 462 | 0.0541 | 30 | c.*58 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1968 | chr19 | TogoVar | ||||||
| LAIR1_chr19_54346384_54369931 | 54349787 | A | ACAGATCC others(23): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 462 | 0.0022 | 30 | c.*54 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1596 | chr19 | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 NA18747.hp1 |
a0007a0012a0026 | a0007c0066a0012c0005a0026c0060 | a0007c0066t0001a0012c0005t0003a0026c0060t0001 | a0007c0066t0001g0067a0012c0005t0003g0034a0026c0060t0001g0044 | 3 | 88 | 0.0341 | 30 | c.178 others(51): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 NA18522.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240a0001c0002t0001g0242a0001c0002t0001g0243others(1): Show | 4 | 280 | 0.0143 | 30 | c.-19 others(41): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar |