| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIF25_chr6_167992671_168050091 | 168001540 | TCTGAGGC others(26): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02293.hp2 NA19011.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0013a0003c0004t0001 | a0001c0001t0001g0172a0001c0001t0001g0216a0001c0001t0001g0227others(2): Show | 5 | 375 | 0.0133 | -33 | c.-36 others(50): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 168001644 | CAGGCGTG others(26): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0001g0172a0001c0001t0001g0216a0001c0001t0001g0227others(27): Show | 32 | 375 | 0.0853 | -33 | c.-36 others(50): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 168001869 | AAAGACAC others(26): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp2 HG02895.hp2 others(1): Show |
a0006a0010 | a0006c0008a0010c0013 | a0006c0008t0016a0010c0013t0016 | a0006c0008t0016g0167a0006c0008t0016g0169a0006c0008t0016g0170others(1): Show | 4 | 375 | 0.0107 | -33 | c.-36 others(50): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 168002104 | AAAGACAC others(26): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(113): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0018others(12): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(110): Show | 116 | 375 | 0.3093 | -33 | c.-36 others(50): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF27_chr9_83829099_83926432 | 83920863 | TGGGAAAT others(26): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0084 | 1 | 346 | 0.0029 | -33 | c.-88 others(48): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 1/17 | chr9 | TogoVar | ||||||
| KIF3A_chr5_132687631_132742546 | 132724807 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp2 NA18747.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0051others(2): Show | 5 | 346 | 0.0145 | -33 | c.510 others(50): Show |
KIF3A | ENSG00000131437.16 | transcript | ENST00000403231.6 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
| KIRREL3_chr11_126418358_127005770 | 126923242 | TCTTCTTC others(26): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0019a0001c0004t0006g0020 | 2 | 114 | 0.0175 | -33 | c.55+ others(50): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| KLF12_chr13_73681089_74139404 | 73901581 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0105 | 1 | 120 | 0.0083 | -33 | c.123 others(52): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| KLF17_chr1_44113821_44140140 | 44119132 | AATGGGAG others(26): Show |
A | intron_variant | MODIFIER | NA19088.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0066 | 1 | 444 | 0.0023 | -33 | c.81+ others(46): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KLF4_chr9_107479852_107494769 | 107493254 | GGAGGTGG others(26): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 428 | 0.0047 | -33 | c.-41 others(44): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 3486 | chr9 | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23979571 | AAAAAAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 286 | 0.0035 | -33 | c.*83 others(44): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4148 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23979581 | AAAAAAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02976.hp1 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0003c0007t0003 | a0001c0001t0003g0158a0001c0001t0003g0167a0003c0007t0003g0017 | 3 | 286 | 0.0105 | -33 | c.*83 others(44): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4138 | chrX | TogoVar | ||||||
| KLHL17_chr1_955584_970719 | 964529 | AGGTCCGC others(26): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 HG01243.hp2 others(8): Show |
a0000 | a0000c0006a0000c0020 | a0000c0006t0007a0000c0020t0016 | a0000c0006t0007g0010a0000c0006t0007g0019a0000c0006t0007g0053others(1): Show | 11 | 432 | 0.0255 | -33 | c.170 others(48): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KLK10_chr19_51007739_51024709 | 51021474 | TCTTCAAC others(26): Show |
T | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0013 | 1 | 450 | 0.0022 | -33 | c.-18 others(44): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 1766 | chr19 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9606701 | ATATATAA others(26): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327a0001c0001t0004g0330 | 2 | 436 | 0.0046 | -33 | c.85+ others(48): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152290272 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0022 | 1 | 172 | 0.0058 | -33 | c.850 others(52): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133188717 | CCGCCGTC others(26): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show |
a0003a0006a0007 | a0003c0011a0003c0015a0003c0032others(5): Show | a0003c0011t0001a0003c0015t0002a0003c0032t0010others(7): Show | a0003c0011t0001g0018a0003c0011t0001g0022a0003c0011t0001g0153others(24): Show | 27 | 332 | 0.0813 | -33 | c.144 others(48): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(26): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02071.hp1 HG04184.hp2 others(4): Show |
a0001a0005a0018 | a0001c0001a0005c0007a0018c0019 | a0001c0001t0001a0005c0007t0001a0018c0019t0001 | a0001c0001t0001g0153a0001c0001t0001g0176a0001c0001t0001g0177others(4): Show | 7 | 320 | 0.0219 | -33 | c.284 others(50): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KRT76_chr12_52763155_52782345 | 52763592 | CAATCTTT others(26): Show |
C | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0014 | 1 | 444 | 0.0023 | -33 | c.*50 others(44): Show |
KRT76 | ENSG00000185069.2 | transcript | ENST00000332411.2 | protein_coding | 4562 | chr12 | TogoVar | ||||||
| KRTAP10-11_chr21_44641414_44652650 | 44645405 | GGGGTGCA others(26): Show |
G | upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | -33 | c.-10 others(44): Show |
KRTAP10-11 | ENSG00000243489.4 | transcript | ENST00000334670.9 | protein_coding | 1008 | chr21 | TogoVar | ||||||
| KRTAP10-4_chr21_44568729_44580371 | 44578085 | TCCTCAGC others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 476 | 0.0021 | -33 | c.*31 others(44): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 2715 | chr21 | TogoVar | ||||||
| KRTAP2-1_chr17_41041541_41052316 | 41050879 | TATATAAT others(26): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 4 | 407 | 0.0098 | -33 | c.-36 others(44): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3564 | chr17 | TogoVar | ||||||
| KRTAP2-1_chr17_41041541_41052316 | 41050907 | TATATAAT others(26): Show |
T | upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 407 | 0.0025 | -33 | c.-36 others(44): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3592 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41050879 | TATATAAT others(26): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03471.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 3 | 411 | 0.0073 | -33 | c.*39 others(44): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3618 | chr17 | TogoVar | ||||||
| KRTAP2-2_chr17_41049498_41060230 | 41050907 | TATATAAT others(26): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 411 | 0.0024 | -33 | c.*39 others(44): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3590 | chr17 | TogoVar | ||||||
| KRTAP4-4_chr17_41154649_41165748 | 41158501 | GGAAGAAG others(26): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01123.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 15 | 420 | 0.0357 | -33 | c.*16 others(44): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1147 | chr17 | TogoVar | ||||||
| KRTAP4-4_chr17_41154649_41165748 | 41164625 | ATGCTTTT others(26): Show |
A | upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -33 | c.-39 others(44): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 3878 | chr17 | TogoVar | ||||||
| KYAT1_chr9_128827942_128886950 | 128865324 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01496.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0074a0001c0001t0001g0083others(1): Show | 4 | 326 | 0.0123 | -33 | c.-7+ others(50): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| KYAT1_chr9_128827942_128886950 | 128865326 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0116a0001c0001t0001g0123others(2): Show | 5 | 326 | 0.0153 | -33 | c.-7+ others(50): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 5958056 | GAGAAGGA others(26): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 94 | 0.0106 | -33 | c.167 others(52): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | ||||||
| L3MBTL4_chr18_5949717_6419911 | 5958127 | GAAAAAGA others(26): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0007a0001c0004t0006a0002c0002t0001 | a0001c0001t0007g0016a0001c0001t0007g0077a0001c0004t0006g0087others(2): Show | 5 | 94 | 0.0532 | -33 | c.167 others(52): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879794 | GGGGCGAG others(26): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0016a0001c0001t0003g0029others(2): Show | 13 | 456 | 0.0285 | -33 | c.-35 others(42): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 109 | chr13 | TogoVar | ||||||
| LACC1_chr13_43874904_43898932 | 43879803 | CGAGGCGG others(26): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 2 | 456 | 0.0044 | -33 | c.-35 others(42): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 100 | chr13 | TogoVar | ||||||
| LACRT_chr12_54625811_54639895 | 54639035 | TGGGAGTG others(26): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 414 | 0.0024 | -33 | c.-42 others(44): Show |
LACRT | ENSG00000135413.9 | transcript | ENST00000257867.5 | protein_coding | 4141 | chr12 | TogoVar | ||||||
| LACTB2_chr8_70632266_70674185 | 70651649 | GTTTTCTG others(26): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0118others(16): Show | 28 | 352 | 0.0796 | -33 | c.413 others(50): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129180014 | AATTTAAA others(26): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(42): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0011a0001c0012others(39): Show | a0001c0001t0001a0001c0011t0002a0001c0012t0001others(39): Show | a0001c0001t0001g0052a0001c0011t0002g0003a0001c0012t0001g0074others(42): Show | 45 | 88 | 0.5114 | -33 | c.146 others(52): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 10/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62316035 | TGGCACCC others(26): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01515.hp1 | a0051 | a0051c0117 | a0051c0117t0001 | a0051c0117t0001g0072 | 1 | 186 | 0.0054 | -33 | c.775 others(45): Show |
p.Val others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 58/80 | 7846/11426 | 7757/11088 | 2586/3695 | chr20 | TogoVar | ||
| LAMB4_chr7_108018553_108135361 | 108043545 | GTTTTTTT others(26): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02738.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0193a0001c0001t0001g0262a0001c0002t0001g0008others(1): Show | 4 | 292 | 0.0137 | -33 | c.447 others(50): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 29/33 | chr7 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183145095 | ACTGCCAA others(26): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0002 | 1 | 308 | 0.0033 | -33 | c.*23 others(44): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 28/28 | 2307 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| LARP4_chr12_50395885_50485004 | 50436068 | TGTGTGTG others(26): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0301 | 1 | 318 | 0.0031 | -33 | c.535 others(48): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(26): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 NA19030.hp1 |
a0004 | a0004c0019 | a0004c0019t0020 | a0004c0019t0020g0305a0004c0019t0020g0306 | 2 | 316 | 0.0063 | -33 | c.*51 others(44): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | ||||||
| LATS2_chr13_20968036_21066586 | 21007697 | ATAGTATG others(26): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0054 | 1 | 316 | 0.0032 | -33 | c.343 others(52): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
| LBR_chr1_225396502_225433038 | 225426581 | ACAACAAT others(26): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0202 | 1 | 338 | 0.0030 | -33 | c.-15 others(50): Show |
LBR | ENSG00000143815.15 | transcript | ENST00000272163.9 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| LCE7A_chr1_152854996_152866252 | 152860609 | TAGAAAAA others(26): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 398 | 0.0025 | -33 | c.-21 others(46): Show |
LCE7A | ENSG00000285946.2 | transcript | ENST00000650277.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LCE7A_chr1_152854996_152866252 | 152865241 | GCGCTTTT others(26): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -33 | c.*42 others(44): Show |
LCE7A | ENSG00000285946.2 | transcript | ENST00000650277.2 | protein_coding | 3990 | chr1 | TogoVar | ||||||
| LCN15_chr9_136754634_136769518 | 136769246 | CCCCCCCG others(26): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 356 | 0.0028 | -33 | c.-47 others(44): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4729 | chr9 | TogoVar | ||||||
| LCN15_chr9_136754634_136769518 | 136769280 | CCCCCCCG others(26): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG02717.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 2 | 356 | 0.0056 | -33 | c.-48 others(44): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4763 | chr9 | TogoVar | ||||||
| LCNL1_chr9_136977993_136990758 | 136978681 | CGTGAGGG others(26): Show |
C | upstream_gene_variant | MODIFIER | NA18979.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | -33 | c.-49 others(44): Show |
LCNL1 | ENSG00000214402.7 | transcript | ENST00000408973.3 | protein_coding | 4311 | chr9 | TogoVar | ||||||
| LCNL1_chr9_136977993_136990758 | 136978692 | TGGTCAGC others(26): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0005a0001c0001t0008g0007 | 3 | 382 | 0.0079 | -33 | c.-48 others(44): Show |
LCNL1 | ENSG00000214402.7 | transcript | ENST00000408973.3 | protein_coding | 4300 | chr9 | TogoVar | ||||||
| LDLRAP1_chr1_25538606_25573886 | 25573853 | AGTGCCCA others(26): Show |
A | downstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0026 | 1 | 364 | 0.0028 | -33 | c.*68 others(44): Show |
LDLRAP1 | ENSG00000157978.12 | transcript | ENST00000374338.5 | protein_coding | 4968 | chr1 | TogoVar |