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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIFAP3_chr1_169916329_170079695 | 170018573 | A | AATTTAAT others(24): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 309 | 0.0032 | 31 | c.102 others(50): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 9/19 | chr1 | TogoVar | |||||||
KIFBP_chr10_68983803_69021982 | 69008391 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 109 | 0.0092 | 31 | c.790 others(46): Show |
KIFBP | ENSG00000198954.9 | transcript | ENST00000361983.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIFBP_chr10_68983803_69021982 | 69008391 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0208 a0002c0002t0002g0010 |
2 | 110 | 0.0182 | 31 | c.790 others(46): Show |
KIFBP | ENSG00000198954.9 | transcript | ENST00000361983.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 127004476 | G | GAGGCAAC others(24): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0061 | 1 | 108 | 0.0093 | 31 | c.-39 others(42): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 3707 | chr11 | TogoVar | |||||||
KLC3_chr19_45335750_45356519 | 45337474 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0063 | 1 | 219 | 0.0046 | 31 | c.-33 others(42): Show |
KLC3 | ENSG00000104892.17 | transcript | ENST00000391946.7 | protein_coding | 3275 | chr19 | TogoVar | |||||||
KLF12_chr13_73681089_74139404 | 73752450 | T | TATATAAA others(24): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01167.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0059 others(36): Show |
39 | 118 | 0.3305 | 31 | c.869 others(50): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
KLF15_chr3_126337635_126362408 | 126343152 | G | GCCCCCCA others(24): Show |
3_prime_UTR_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 142 | 0.0070 | 31 | c.*57 others(40): Show |
KLF15 | ENSG00000163884.4 | transcript | ENST00000296233.4 | protein_coding | 3/3 | 574 | chr3 | TogoVar | ||||||
KLF15_chr3_126337635_126362408 | 126343152 | G | GCCCCCCC others(24): Show |
3_prime_UTR_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 142 | 0.0070 | 31 | c.*57 others(40): Show |
KLF15 | ENSG00000163884.4 | transcript | ENST00000296233.4 | protein_coding | 3/3 | 574 | chr3 | TogoVar | ||||||
KLHDC10_chr7_130065534_130140705 | 130128889 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0069 | 1 | 173 | 0.0058 | 31 | c.980 others(46): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC10_chr7_130065534_130140705 | 130128889 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0283 | 1 | 173 | 0.0058 | 31 | c.980 others(46): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC10_chr7_130065534_130140705 | 130128889 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0371 | 1 | 173 | 0.0058 | 31 | c.980 others(46): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49693748 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02523.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 |
3 | 74 | 0.0405 | 31 | c.96+ others(44): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0131 |
2 | 27 | 0.0741 | 31 | c.*22 others(42): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAT others(24): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 26 | 0.0385 | 31 | c.*22 others(42): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 26 | 0.0385 | 31 | c.*22 others(42): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC2_chr14_49763153_49791385 | 49766569 | A | ATTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 11 | 0.0909 | 31 | c.-19 others(42): Show |
KLHDC2 | ENSG00000165516.11 | transcript | ENST00000298307.10 | protein_coding | 1583 | chr14 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87717745 | C | CGTCAGCA others(24): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02451.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0024 | a0001c0001a0002c0002a0024c0031 | a0001c0001t0001a0002c0002t0001a0024c0031t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(7): Show |
10 | 378 | 0.0265 | 31 | c.760 others(48): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 117991137 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0202 a0001c0002t0003g0197 a0001c0002t0003g0199 others(2): Show |
5 | 149 | 0.0336 | 31 | c.50+ others(48): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 2/7 | chrX | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118089620 | G | GAAAAGAA others(24): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0090 | 1 | 55 | 0.0182 | 31 | c.-25 others(50): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118089620 | G | GAGAAAGA others(24): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193 | 1 | 55 | 0.0182 | 31 | c.-25 others(50): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32773926 | G | GTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 10 | 0.1000 | 31 | c.-13 others(42): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 904 | chr18 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69818219 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0100 | 1 | 130 | 0.0077 | 31 | c.141 others(52): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53665964 | A | AAAAGAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG04115.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0020 | a0001c0002t0010g0009 a0001c0002t0020g0014 |
3 | 349 | 0.0086 | 31 | c.-39 others(40): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 209 | chr6 | TogoVar | |||||||
KLHL32_chr6_96919728_97145753 | 97129660 | T | TCACCTGA others(24): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 242 | 0.0041 | 31 | c.141 others(50): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 36 | 0.0278 | 31 | c.748 others(48): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL36_chr16_84643511_84672686 | 84644155 | G | GAAAGAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0039 | 1 | 411 | 0.0024 | 31 | c.-45 others(42): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 4355 | chr16 | TogoVar | |||||||
KLHL9_chr9_21324665_21340404 | 21338261 | A | ACAATCTT others(24): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 31 | c.-34 others(42): Show |
KLHL9 | ENSG00000198642.7 | transcript | ENST00000359039.5 | protein_coding | 2858 | chr9 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959757 | G | GGAGGAAG others(24): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 250 | 0.0040 | 31 | c.583 others(46): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK8_chr19_50991008_51006604 | 50991751 | G | GAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(54): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(34): Show |
57 | 254 | 0.2244 | 31 | c.*43 others(42): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4256 | chr19 | TogoVar | |||||||
KLRF1_chr12_9822481_9850005 | 9834072 | A | AGGCAGGA others(24): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0002g0054 |
6 | 386 | 0.0155 | 31 | c.334 others(46): Show |
KLRF1 | ENSG00000150045.12 | transcript | ENST00000617889.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178015 | T | TTAAAAAA others(24): Show |
splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 58 | 0.0172 | 31 | c.744 others(44): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | |||||||
KMT5B_chr11_68149863_68218296 | 68191173 | T | TGTGTGTG others(24): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 67 | 0.0149 | 31 | c.-76 others(48): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 48 | 0.0208 | 31 | c.-21 others(46): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120082 | A | AACAGGGA others(24): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02080.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0006a0001c0002t0003a0002c0003t0003others(6): Show | a0001c0001t0006g0346 a0001c0002t0003g0045 a0002c0003t0003g0001 others(23): Show |
27 | 291 | 0.0928 | 31 | c.353 others(48): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120626 | A | AGGAGAGG others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(202): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0170 a0001c0001t0002g0008 a0001c0001t0002g0009 others(198): Show |
205 | 275 | 0.7455 | 31 | c.353 others(46): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120645 | A | ACAGAGGA others(24): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0323 | 1 | 366 | 0.0027 | 31 | c.353 others(46): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KRI1_chr19_10548085_10571010 | 10570547 | C | CAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0021 |
2 | 10 | 0.2000 | 31 | c.-45 others(42): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40818870 | G | GCCGCCGG others(24): Show |
frameshift_variant | HIGH | NA19055.hp1 | a0020 | a0020c0022 | a0020c0022t0001 | a0020c0022t0001g0029 | 1 | 424 | 0.0024 | 31 | c.166 others(40): Show |
p.Gly others(5): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1693/2143 | 1664/1755 | 555/584 | chr17 | TogoVar | |||
KRT84_chr12_52372812_52390652 | 52384328 | C | CAAAACTT others(24): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 422 | 0.0024 | 31 | c.547 others(46): Show |
KRT84 | ENSG00000161849.3 | transcript | ENST00000257951.3 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
KRTAP10-1_chr21_44533981_44545195 | 44536602 | C | CTTTGACG others(24): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 436 | 0.0023 | 31 | c.*26 others(42): Show |
KRTAP10-1 | ENSG00000215455.4 | transcript | ENST00000400375.1 | protein_coding | 2378 | chr21 | TogoVar | |||||||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TCTCTCTC others(24): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 26 | 0.0385 | 31 | c.-14 others(42): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 254 | 0.0039 | 31 | c.-11 others(42): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41097881 | G | GCTGGGGG others(24): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 31 | c.*36 others(42): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3620 | chr17 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583918 | G | GTGTGTGT others(24): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG03491.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 419 | 0.0048 | 31 | c.*49 others(40): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 423 | chr11 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41263263 | A | AGGAAGGA others(24): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 247 | 0.0040 | 31 | c.-21 others(42): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 2114 | chr17 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0100a0001c0015t0020 | a0001c0001t0100g0148 a0001c0015t0020g0142 |
2 | 62 | 0.0323 | 31 | c.-28 others(42): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 142980225 | T | TAGCTTAT others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 330 | 0.0030 | 31 | c.730 others(48): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153859490 | A | AGGAAGGA others(24): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0090 a0001c0001t0004g0142 |
2 | 274 | 0.0073 | 31 | c.*31 others(42): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2025 | chrX | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0036 | 1 | 44 | 0.0227 | 31 | c.119 others(52): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54502216 | T | TGTGTTTG others(24): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 474 | 0.0021 | 31 | c.-70 others(40): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 614 | chr19 | TogoVar |