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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLK8_chr19_50991008_51006604 | 50991738 | G | GACTCCAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(40): Show |
74 | 414 | 0.1787 | 27 | c.*43 others(38): Show |
KLK8 | ENSG00000129455.16 | transcript | ENST00000695909.1 | protein_coding | 4269 | chr19 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607353 | T | TTTCTTCC others(20): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 434 | 0.0023 | 27 | c.85+ others(40): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 152 | 0.0066 | 27 | c.498 others(44): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 152 | 0.0066 | 27 | c.498 others(44): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116710894 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 199 | 0.0050 | 27 | c.657 others(44): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02523.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 2 | 49 | 0.0408 | 27 | c.-21 others(42): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120308 | G | GGGAGGAG others(20): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0067a0001c0005t0014a0001c0005t0020others(1): Show | a0001c0002t0067g0013 a0001c0005t0014g0313 a0001c0005t0020g0310 others(3): Show |
6 | 366 | 0.0164 | 27 | c.353 others(44): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120414 | A | AGGAAATG others(20): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0330 | 1 | 183 | 0.0055 | 27 | c.353 others(42): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120441 | G | GAAGGAAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0025 others(19): Show |
24 | 218 | 0.1101 | 27 | c.353 others(42): 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(20): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 NA18969.hp2 NA19076.hp2 others(1): Show |
a0001a0027 | a0001c0001a0001c0008a0027c0027 | a0001c0001t0001a0001c0008t0001a0027c0027t0001 | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0008t0001g0050 others(1): Show |
4 | 12 | 0.3333 | 27 | c.-45 others(38): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40818962 | T | TGCCGCCG others(20): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG00741.hp2 HG01069.hp2 others(23): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0037 |
26 | 424 | 0.0613 | 27 | c.154 others(36): Show |
p.Gly others(40): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1601/2143 | 1572/1755 | 524/584 | chr17 | TogoVar | |||
KRT31_chr17_41388721_41402608 | 41398911 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0007 | a0007c0016 | a0007c0016t0004 | a0007c0016t0004g0025 | 1 | 150 | 0.0067 | 27 | c.-13 others(38): Show |
KRT31 | ENSG00000094796.5 | transcript | ENST00000251645.3 | protein_coding | 1304 | chr17 | TogoVar | |||||||
KRT31_chr17_41388721_41402608 | 41398912 | T | TATATATA others(20): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0043 | 1 | 396 | 0.0025 | 27 | c.-13 others(38): Show |
KRT31 | ENSG00000094796.5 | transcript | ENST00000251645.3 | protein_coding | 1305 | chr17 | TogoVar | |||||||
KRT35_chr17_41471710_41486151 | 41475627 | C | CAAAAAGA others(20): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | 27 | c.*14 others(38): Show |
KRT35 | ENSG00000197079.9 | transcript | ENST00000246639.7 | protein_coding | 1082 | chr17 | TogoVar | |||||||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TCTCTCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 26 | 0.0385 | 27 | c.-14 others(38): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | |||||||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TTCTTCTC others(20): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 26 | 0.0385 | 27 | c.-14 others(38): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 254 | 0.0039 | 27 | c.-11 others(38): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0000 | 1 | 254 | 0.0039 | 27 | c.-11 others(38): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 253 | 0.0040 | 27 | c.*49 others(38): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 253 | 0.0040 | 27 | c.*49 others(38): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051217 | A | ATATATAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 269 | 0.0074 | 27 | c.-39 others(38): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3902 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051217 | A | ATATATAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 NA19011.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 268 | 0.0112 | 27 | c.*36 others(38): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3280 | chr17 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30749541 | G | GACAAAGA others(20): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 378 | 0.0026 | 27 | c.-23 others(38): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 2283 | chr21 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41164699 | T | TTTTTCAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 417 | 0.0024 | 27 | c.-40 others(38): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 3952 | chr17 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GTGTGTGT others(20): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 117 | 0.0085 | 27 | c.*53 others(36): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583917 | T | TGTGTGTG others(20): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 427 | 0.0023 | 27 | c.*49 others(36): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 424 | chr11 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583918 | G | GTGTGTGT others(20): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 418 | 0.0024 | 27 | c.*49 others(36): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 423 | chr11 | TogoVar | |||||||
KRTAP9-1_chr17_41184887_41195639 | 41190343 | T | TGCTGTGG others(20): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(434): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0000 a0001c0009t0001g0000 a0002c0002t0001g0000 others(6): Show |
437 | 458 | 0.9541 | 27 | c.483 others(34): Show |
p.Pro others(40): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 484/753 | 484/753 | 162/250 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KSR1_chr17_27451448_27631435 | 27526044 | T | TTTCTTTT others(20): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 103 | 0.0097 | 27 | c.232 others(46): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 66 | 0.0152 | 27 | c.372 others(46): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117812842 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0149 | 1 | 38 | 0.0263 | 27 | c.472 others(46): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0073 | a0001c0003t0073g0068 | 1 | 61 | 0.0164 | 27 | c.-28 others(38): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153859490 | A | AGGAAGGA others(20): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 273 | 0.0037 | 27 | c.*31 others(38): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2025 | chrX | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62197397 | T | TTTATATA others(20): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0305 | 1 | 24 | 0.0417 | 27 | c.-11 others(44): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 44 | 0.0227 | 27 | c.119 others(48): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACAACAA others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 48 | 0.0208 | 27 | c.-91 others(46): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6391752 | A | AACTACTA others(20): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02922.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0002c0002t0001a0002c0006t0001 | a0001c0001t0002g0028 a0001c0001t0002g0037 a0002c0002t0001g0035 others(2): Show |
5 | 52 | 0.0962 | 27 | c.-91 others(46): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128921713 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0019 | a0019c0055 | a0019c0055t0002 | a0019c0055t0002g0030 | 1 | 85 | 0.0118 | 27 | c.112 others(46): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129314398 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03710.hp1 NA19060.hp1 |
a0011a0015 | a0011c0008a0015c0065a0015c0069 | a0011c0008t0002a0015c0065t0004a0015c0069t0004 | a0011c0008t0002g0085 a0015c0065t0004g0069 a0015c0069t0004g0066 |
3 | 21 | 0.1429 | 27 | c.341 others(44): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 23/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62317267 | C | CCAGACCA others(20): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0084 | 1 | 184 | 0.0054 | 27 | c.751 others(42): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 55/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349686 | A | ATGATGGT others(20): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0097 | a0097c0070 | a0097c0070t0001 | a0097c0070t0001g0048 | 1 | 183 | 0.0055 | 27 | c.956 others(44): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360462 | T | TCAGCAGG others(20): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0058 | a0058c0110 | a0058c0110t0001 | a0058c0110t0001g0138 | 1 | 160 | 0.0063 | 27 | c.450 others(44): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108025389 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0001a0015 | a0001c0070a0015c0043 | a0001c0070t0001a0015c0043t0001 | a0001c0070t0001g0247 a0015c0043t0001g0084 |
2 | 130 | 0.0154 | 27 | c.514 others(46): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 33/33 | chr7 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183149881 | C | CCTCACAC others(20): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01167.hp2 others(22): Show |
a0001a0016 | a0001c0002a0001c0003a0016c0041 | a0001c0002t0002a0001c0003t0003a0001c0003t0008others(3): Show | a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 others(20): Show |
25 | 305 | 0.0820 | 27 | c.*70 others(38): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4290 | chr1 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183150076 | C | CCTCACAC others(20): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 NA18948.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0064 a0001c0003t0003g0258 a0001c0003t0003g0296 others(1): Show |
4 | 305 | 0.0131 | 27 | c.*72 others(38): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4485 | chr1 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131047165 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01358.hp2 HG02615.hp1 |
a0001a0009a0012 | a0001c0004a0009c0030a0012c0053 | a0001c0004t0001a0009c0030t0002a0012c0053t0001 | a0001c0004t0001g0344 a0009c0030t0002g0330 a0012c0053t0001g0292 |
3 | 95 | 0.0316 | 27 | c.151 others(46): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149574 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0247 | 1 | 292 | 0.0034 | 27 | c.888 others(44): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAPTM4A_chr2_20027650_20056628 | 20047696 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(65): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0020 others(14): Show |
68 | 399 | 0.1704 | 27 | c.111 others(44): Show |
LAPTM4A | ENSG00000068697.7 | transcript | ENST00000175091.5 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
LAPTM4B_chr8_97770788_97858013 | 97834144 | G | GAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0300 a0001c0001t0002g0345 a0001c0001t0002g0368 others(6): Show |
9 | 204 | 0.0441 | 27 | c.603 others(44): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LAPTM5_chr1_30727469_30762774 | 30728791 | C | CCCAGCAC others(20): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0129 | 1 | 420 | 0.0024 | 27 | c.*50 others(38): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 3677 | chr1 | TogoVar |