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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP1-3_chr17_41028884_41039874 | 41035763 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 others(1): Show |
5 | 435 | 0.0115 | 9 | c.-94 others(18): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 890 | chr17 | TogoVar | |||||||
KRTAP10-6_chr21_44586268_44597505 | 44594642 | C | CTATTGCA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(72): Show |
a0002a0003a0005others(12): Show | a0002c0002a0003c0004a0003c0007others(18): Show | a0002c0002t0002a0003c0004t0001a0003c0007t0001others(18): Show | a0002c0002t0002g0000 a0003c0004t0001g0000 a0003c0007t0001g0000 others(18): Show |
75 | 428 | 0.1752 | 9 | c.-21 others(20): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 2138 | chr21 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310372 | A | AGAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01258.hp1 others(5): Show |
a0001a0004a0014 | a0001c0001a0004c0003a0014c0018 | a0001c0001t0001a0004c0003t0001a0014c0018t0001 | a0001c0001t0001g0000 a0004c0003t0001g0000 a0014c0018t0001g0000 |
8 | 421 | 0.0190 | 9 | c.-11 others(20): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1064 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310372 | A | AGAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG01258.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0003c0004t0001g0000 |
7 | 413 | 0.0170 | 9 | c.*49 others(20): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4539 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051028 | A | AATATATT others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG01070.hp1 others(67): Show |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0002a0002c0002t0012a0010c0012t0002 | a0002c0002t0002g0000 a0002c0002t0012g0000 a0010c0012t0002g0000 |
70 | 407 | 0.1720 | 9 | c.-37 others(20): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3713 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051084 | A | AATATATT others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp2 HG03579.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 3 | 407 | 0.0074 | 9 | c.-38 others(20): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3769 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051028 | A | AATATATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG01070.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 others(4): Show |
73 | 411 | 0.1776 | 9 | c.*38 others(20): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3469 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051084 | A | AATATATT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp2 HG03579.hp1 |
a0003a0008 | a0003c0006a0008c0017 | a0003c0006t0003a0008c0017t0007 | a0003c0006t0003g0000 a0008c0017t0007g0000 |
3 | 411 | 0.0073 | 9 | c.*37 others(20): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3413 | chr17 | TogoVar | |||||||
KRTAP24-1_chr21_30276309_30287950 | 30279860 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01169.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 36 | 452 | 0.0797 | 9 | c.*23 others(20): Show |
KRTAP24-1 | ENSG00000188694.6 | transcript | ENST00000340345.6 | protein_coding | 1448 | chr21 | TogoVar | |||||||
KRTAP29-1_chr17_41296826_41307851 | 41305691 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02615.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 399 | 0.0075 | 9 | c.-28 others(20): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 2841 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158573 | A | AGAGGAGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02165.hp1 HG02572.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 |
9 | 420 | 0.0214 | 9 | c.*16 others(20): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1075 | chr17 | TogoVar | |||||||
KRTAP5-3_chr11_1602565_1613463 | 1612798 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00738.hp1 others(22): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0003others(1): Show | a0001c0001t0001g0000 a0001c0002t0003g0000 a0002c0003t0003g0000 others(1): Show |
25 | 427 | 0.0586 | 9 | c.-44 others(20): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 4336 | chr11 | TogoVar | |||||||
KRTAP6-2_chr21_30593590_30603902 | 30597387 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01496.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 442 | 0.0136 | 9 | c.*12 others(20): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1202 | chr21 | TogoVar | |||||||
KRTAP6-3_chr21_30587440_30598075 | 30597387 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01496.hp2 HG02738.hp1 others(3): Show |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0001a0008c0007t0003 | a0002c0002t0001g0000 a0008c0007t0003g0000 |
6 | 434 | 0.0138 | 9 | c.*46 others(20): Show |
KRTAP6-3 | ENSG00000212938.3 | transcript | ENST00000391624.1 | protein_coding | 4313 | chr21 | TogoVar | |||||||
KRTAP7-1_chr21_30824039_30834759 | 30826651 | T | TAGATAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(81): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0000 a0002c0004t0001g0000 |
84 | 426 | 0.1972 | 9 | c.*27 others(20): Show |
KRTAP7-1 | ENSG00000274749.1 | transcript | ENST00000621162.1 | protein_coding | 2387 | chr21 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41263273 | A | AAGAAAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(121): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0000a0001c0006t0000a0001c0007t0000others(1): Show | a0001c0001t0000g0000 a0001c0006t0000g0000 a0001c0007t0000g0000 others(1): Show |
124 | 248 | 0.5000 | 9 | c.-21 others(20): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 2104 | chr17 | TogoVar | |||||||
KSR1_chr17_27451448_27631435 | 27579878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02451.hp1 others(5): Show |
a0001a0004a0008 | a0001c0001a0004c0008a0008c0019 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0076 others(5): Show |
8 | 246 | 0.0325 | 9 | c.520 others(26): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117467911 | A | AGGGTTTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(158): Show | a0001c0001t0001g0079 a0001c0001t0001g0152 a0001c0001t0001g0153 others(177): Show |
180 | 196 | 0.9184 | 9 | c.284 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 19/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117606601 | C | CTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0042others(13): Show | a0001c0001t0001g0157 a0001c0001t0020g0149 a0001c0001t0042g0020 others(13): Show |
16 | 196 | 0.0816 | 9 | c.117 others(30): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117637675 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(17): Show | a0001c0001t0001g0079 a0001c0001t0001g0152 a0001c0001t0001g0153 others(20): Show |
23 | 196 | 0.1174 | 9 | c.117 others(30): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117639629 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0047a0001c0001t0084others(38): Show | a0001c0001t0002g0114 a0001c0001t0047g0007 a0001c0001t0084g0067 others(41): Show |
44 | 196 | 0.2245 | 9 | c.117 others(30): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117798720 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01361.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0025a0001c0002t0002a0001c0002t0012others(2): Show | a0001c0001t0025g0192 a0001c0002t0002g0091 a0001c0002t0012g0032 others(2): Show |
5 | 196 | 0.0255 | 9 | c.473 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117848841 | G | GTGATGGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01071.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(34): Show | a0001c0001t0002g0114 a0001c0001t0018g0147 a0001c0001t0019g0144 others(37): Show |
40 | 196 | 0.2041 | 9 | c.472 others(26): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117936530 | T | TTAGTAGT others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19065.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0032a0001c0003t0138 | a0001c0001t0032g0006 a0001c0003t0138g0134 |
2 | 196 | 0.0102 | 9 | c.180 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117950746 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02074.hp1 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0017a0001c0001t0025a0001c0002t0001others(5): Show | a0001c0001t0017g0155 a0001c0001t0025g0192 a0001c0002t0001g0166 others(5): Show |
8 | 196 | 0.0408 | 9 | c.180 others(28): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55646442 | T | TTTCCTTT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18612.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0002t0003g0183 |
3 | 314 | 0.0096 | 9 | c.217 others(26): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128832897 | A | AAACAACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00673.hp1 others(27): Show |
a0001a0010 | a0001c0001a0001c0009a0010c0007 | a0001c0001t0002a0001c0009t0002a0010c0007t0002 | a0001c0001t0002g0141 a0001c0001t0002g0156 a0001c0001t0002g0162 others(27): Show |
30 | 326 | 0.0920 | 9 | c.*68 others(18): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 44 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128858395 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01361.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 others(20): Show |
23 | 326 | 0.0706 | 9 | c.-6- others(26): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 143003893 | A | AGAAAAAC others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(54): Show | a0001c0001t0006g0004 a0001c0001t0006g0027 a0001c0001t0006g0039 others(80): Show |
83 | 332 | 0.2500 | 9 | c.902 others(28): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153860529 | T | TTCTTTCT others(2): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 283 | 0.0035 | 9 | c.*21 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 986 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860530 | T | TCTTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0003 a0001c0007t0001g0040 |
2 | 283 | 0.0071 | 9 | c.*21 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 985 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860728 | C | CTCTCTCT others(2): Show |
downstream_gene_variant | MODIFIER | NA19006.hp1 | a0015 | a0015c0010 | a0015c0010t0007 | a0015c0010t0007g0175 | 1 | 283 | 0.0035 | 9 | c.*19 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 787 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860762 | T | TCTCTCTC others(2): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 283 | 0.0035 | 9 | c.*19 others(20): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 753 | chrX | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153863749 | G | GGATGATC others(2): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0015 | a0015c0010 | a0015c0010t0007 | a0015c0010t0007g0175 | 1 | 283 | 0.0035 | 9 | c.345 others(26): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 26/28 | chrX | TogoVar | |||||||
L3MBTL3_chr6_130013581_130146438 | 130018514 | A | AGCGGCGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG03098.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0055 |
3 | 298 | 0.0101 | 9 | c.-24 others(18): Show |
L3MBTL3 | ENSG00000198945.8 | transcript | ENST00000361794.7 | protein_coding | 66 | chr6 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6285809 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02257.hp1 HG02486.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0044 others(8): Show |
11 | 94 | 0.1170 | 9 | c.127 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACTACTA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02809.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0047 a0001c0001t0004g0076 a0002c0002t0001g0091 |
3 | 94 | 0.0319 | 9 | c.-91 others(28): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43898747 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01069.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0006 a0001c0001t0004g0015 a0001c0001t0004g0019 others(7): Show |
28 | 456 | 0.0614 | 9 | c.*73 others(20): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 4816 | chr13 | TogoVar | |||||||
LACTBL1_chr1_22948043_22977866 | 22950371 | T | TTTATTAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG02148.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0005 a0001c0001t0001g0050 a0002c0004t0001g0098 |
3 | 450 | 0.0067 | 9 | c.*26 others(20): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 2671 | chr1 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54346700 | T | TAAATAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0027 others(2): Show |
10 | 462 | 0.0217 | 9 | c.*85 others(20): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4683 | chr19 | TogoVar | |||||||
LALBA_chr12_48562684_48575046 | 48571386 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG02055.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(4): Show |
8 | 452 | 0.0177 | 9 | c.-13 others(20): Show |
LALBA | ENSG00000167531.6 | transcript | ENST00000301046.6 | protein_coding | 1341 | chr12 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 6957785 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02717.hp1 others(4): Show |
a0030a0064a0070others(3): Show | a0030c0020a0064c0042a0070c0179others(3): Show | a0030c0020t0001a0030c0020t0002a0064c0042t0001others(4): Show | a0030c0020t0001g0243 a0030c0020t0002g0113 a0064c0042t0001g0192 others(4): Show |
7 | 278 | 0.0252 | 9 | c.796 others(26): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 55/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7115814 | C | CAAAACAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG02080.hp1 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0092others(6): Show | a0001c0001t0002a0001c0002t0002a0002c0092t0002others(6): Show | a0001c0001t0002g0024 a0001c0002t0002g0020 a0002c0092t0002g0021 others(6): Show |
9 | 278 | 0.0324 | 9 | c.61+ others(24): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 1/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129210003 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03139.hp2 others(1): Show |
a0003a0007a0010others(1): Show | a0003c0044a0007c0017a0010c0034others(1): Show | a0003c0044t0003a0007c0017t0007a0010c0034t0002others(1): Show | a0003c0044t0003g0020 a0007c0017t0007g0025 a0010c0034t0002g0036 others(1): Show |
4 | 88 | 0.0455 | 9 | c.178 others(30): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129219863 | G | GATATACC others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03041.hp1 others(2): Show |
a0002a0006a0007others(1): Show | a0002c0004a0002c0035a0006c0047others(2): Show | a0002c0004t0007a0002c0035t0006a0006c0047t0006others(2): Show | a0002c0004t0007g0024 a0002c0035t0006g0028 a0006c0047t0006g0026 others(2): Show |
5 | 88 | 0.0568 | 9 | c.178 others(30): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129258521 | A | AGAGAATG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 NA21309.hp2 |
a0009a0019 | a0009c0070a0019c0055 | a0009c0070t0001a0019c0055t0002 | a0009c0070t0001g0051 a0019c0055t0002g0030 |
2 | 88 | 0.0227 | 9 | c.209 others(28): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 14/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318215 | G | GAGAGGGG others(2): Show |
intron_variant | MODIFIER | HG02004.hp2 NA20752.hp2 |
a0001a0119 | a0001c0007a0119c0112 | a0001c0007t0001a0119c0112t0001 | a0001c0007t0001g0141 a0119c0112t0001g0140 |
2 | 186 | 0.0108 | 9 | c.723 others(26): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349698 | G | GTGGGGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
a0001a0002a0003others(69): Show | a0001c0001a0001c0007a0001c0008others(84): Show | a0001c0001t0001a0001c0007t0001a0001c0008t0001others(85): Show | a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0105 others(113): Show |
116 | 186 | 0.6237 | 9 | c.956 others(26): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108126554 | C | CCTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG03516.hp2 |
a0008a0029a0035 | a0008c0044a0029c0036a0035c0033 | a0008c0044t0002a0029c0036t0002a0035c0033t0001 | a0008c0044t0002g0091 a0029c0036t0002g0089 a0035c0033t0001g0090 |
3 | 292 | 0.0103 | 9 | c.-33 others(26): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 1/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183140245 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0016others(11): Show | a0001c0002t0002g0019 a0001c0002t0002g0023 a0001c0002t0002g0024 others(28): Show |
31 | 308 | 0.1007 | 9 | c.447 others(26): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |