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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGGAA others(27): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0041a0001c0001t0003g0046a0001c0001t0005g0147others(3): Show | 6 | 420 | 0.0143 | 34 | c.-49 others(43): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGGAA others(27): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01952.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0071others(1): Show | a0001c0001t0002g0157a0001c0001t0014g0025a0001c0001t0071g0119others(1): Show | 4 | 420 | 0.0095 | 34 | c.-49 others(43): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGGAA others(27): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0222 | 1 | 420 | 0.0024 | 34 | c.-49 others(43): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53666063 | G | GGAAGGAA others(27): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 34 | c.-49 others(43): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 308 | chr6 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137682403 | T | TAGAGAGA others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0089a0001c0001t0002g0069a0001c0001t0002g0159others(3): Show | 6 | 252 | 0.0238 | 34 | c.527 others(51): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
KLHL5_chr4_39057232_39131233 | 39101124 | T | TTATATAC others(27): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 304 | 0.0033 | 34 | c.130 others(53): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KLK10_chr19_51007739_51024709 | 51020198 | C | CAGAGAGA others(27): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0100 | 1 | 450 | 0.0022 | 34 | c.-58 others(43): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 490 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51020198 | C | CAGAGAGA others(27): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 456 | 0.0022 | 34 | c.*23 others(45): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2037 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATACATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 456 | 0.0022 | 34 | c.-50 others(45): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | ||||||
KLK11_chr19_51017236_51031616 | 51031595 | C | CATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG02083.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0075a0001c0001t0001g0083others(4): Show | 7 | 456 | 0.0154 | 34 | c.-50 others(45): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4980 | chr19 | TogoVar | ||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATACATA others(27): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 448 | 0.0022 | 34 | c.457 others(49): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK12_chr19_51024094_51040002 | 51031595 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG02083.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078a0001c0001t0002g0053a0001c0001t0002g0119others(2): Show | 6 | 448 | 0.0134 | 34 | c.457 others(49): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KLK1_chr19_50814146_50828787 | 50815719 | C | CAGGAGAA others(27): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 422 | 0.0024 | 34 | c.*34 others(45): Show |
KLK1 | ENSG00000167748.11 | transcript | ENST00000301420.3 | protein_coding | 3426 | chr19 | TogoVar | ||||||
KLK4_chr19_50901351_50916395 | 50912372 | G | GAGGAGGG others(27): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0001c0001t0005a0002c0003t0002others(1): Show | a0001c0001t0002g0131a0001c0001t0005g0132a0002c0003t0002g0097others(1): Show | 5 | 414 | 0.0121 | 34 | c.-10 others(45): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 978 | chr19 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(27): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025a0001c0001t0006g0108 | 3 | 436 | 0.0069 | 34 | c.85+ others(47): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KLRB1_chr12_9589551_9612916 | 9607415 | T | TTTCTTTT others(27): Show |
intron_variant | MODIFIER | NA19085.hp1 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0073a0002c0002t0001g0074 | 2 | 436 | 0.0046 | 34 | c.85+ others(47): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02109.hp2 others(5): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0007 | a0001c0006t0002a0002c0002t0002a0002c0007t0002others(1): Show | a0001c0006t0002g0095a0001c0006t0002g0127a0002c0002t0002g0064others(5): Show | 8 | 172 | 0.0465 | 34 | c.371 others(53): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18977.hp1 |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0002a0012c0021t0007 | a0001c0006t0002g0095a0012c0021t0007g0013 | 2 | 172 | 0.0116 | 34 | c.276 others(51): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152235207 | G | GTATGTAT others(27): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0027 | 1 | 172 | 0.0058 | 34 | c.276 others(51): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 16/58 | chr7 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133159947 | C | CGCCCCGC others(27): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0289 | 1 | 332 | 0.0030 | 34 | c.-52 others(43): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 271 | chr10 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99181103 | G | GTCTCTCT others(27): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0122 | 1 | 334 | 0.0030 | 34 | c.131 others(51): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99181123 | C | CTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 334 | 0.0030 | 34 | c.131 others(51): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
KRBA2_chr17_8353822_8381704 | 8374937 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19077.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0046 | a0001c0001t0010g0207a0001c0002t0046g0093 | 2 | 388 | 0.0052 | 34 | c.-21 others(49): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
KRT18_chr12_52944118_52957906 | 52952949 | G | GCTAACAA others(27): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 406 | 0.0025 | 34 | c.*10 others(43): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 44 | chr12 | TogoVar | ||||||
KRT31_chr17_41388721_41402608 | 41401896 | C | CACTCCAG others(27): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 453 | 0.0022 | 34 | c.-43 others(45): Show |
KRT31 | ENSG00000094796.5 | transcript | ENST00000251645.3 | protein_coding | 4289 | chr17 | TogoVar | ||||||
KRT40_chr17_40972715_40989326 | 40974724 | C | CTTTCTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00741.hp1 others(24): Show |
a0004a0005a0006others(2): Show | a0004c0005a0004c0007a0005c0004others(3): Show | a0004c0005t0002a0004c0007t0002a0005c0004t0002others(3): Show | a0004c0005t0002g0015a0004c0005t0002g0025a0004c0007t0002g0023others(7): Show | 27 | 451 | 0.0599 | 34 | c.*34 others(45): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 2990 | chr17 | TogoVar | ||||||
KRT78_chr12_52832807_52853994 | 52842959 | G | GAGAGAGA others(27): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0121 | 1 | 410 | 0.0024 | 34 | c.104 others(53): Show |
KRT78 | ENSG00000170423.13 | transcript | ENST00000304620.5 | protein_coding | 6/8 | chr12 | TogoVar | ||||||
KRT85_chr12_52355006_52372481 | 52368883 | G | GGGGGGGT others(27): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 418 | 0.0024 | 34 | c.-14 others(45): Show |
KRT85 | ENSG00000135443.8 | transcript | ENST00000257901.7 | protein_coding | 1403 | chr12 | TogoVar | ||||||
KRTAP1-1_chr17_41035541_41046450 | 41035727 | C | CTTTCTTT others(27): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 1 | 403 | 0.0025 | 34 | c.*51 others(45): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 4813 | chr17 | TogoVar | ||||||
KRTAP1-3_chr17_41028884_41039874 | 41035727 | C | CTTTCTTT others(27): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0000 | 1 | 435 | 0.0023 | 34 | c.-90 others(43): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 854 | chr17 | TogoVar | ||||||
KRTAP10-12_chr21_44692172_44703044 | 44701718 | G | GGTAAAGC others(27): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02976.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 3 | 446 | 0.0067 | 34 | c.*37 others(45): Show |
KRTAP10-12 | ENSG00000189169.8 | transcript | ENST00000400365.3 | protein_coding | 3675 | chr21 | TogoVar | ||||||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TTCTCTCT others(27): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02071.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000a0001c0001t0003g0000 | 5 | 446 | 0.0112 | 34 | c.-14 others(45): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | ||||||
KRTAP10-7_chr21_44595597_44607174 | 44599171 | T | TCTCTCTC others(27): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | 34 | c.-14 others(45): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1425 | chr21 | TogoVar | ||||||
KRTAP19-7_chr21_30555875_30566314 | 30562387 | A | ATATACAT others(27): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 422 | 0.0047 | 34 | c.-10 others(45): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1074 | chr21 | TogoVar | ||||||
KRTAP19-7_chr21_30555875_30566314 | 30562392 | T | TATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 422 | 0.0119 | 34 | c.-11 others(45): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1079 | chr21 | TogoVar | ||||||
KRTAP3-1_chr17_41003521_41014128 | 41007665 | G | GTATATAT others(27): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18995.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 439 | 0.0068 | 34 | c.*11 others(45): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 855 | chr17 | TogoVar | ||||||
KRTAP3-2_chr17_40994193_41004906 | 41001915 | G | GTGTGTGT others(27): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 473 | 0.0021 | 34 | c.-20 others(45): Show |
KRTAP3-2 | ENSG00000212900.3 | transcript | ENST00000391587.3 | protein_coding | 2010 | chr17 | TogoVar | ||||||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(27): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(8): Show |
a0002a0004a0014 | a0002c0002a0004c0004a0014c0007 | a0002c0002t0001a0004c0004t0001a0014c0007t0001 | a0002c0002t0001g0000a0004c0004t0001g0000a0014c0007t0001g0000 | 11 | 429 | 0.0256 | 34 | c.*53 others(43): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(27): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0010 | a0002c0010t0013 | a0002c0010t0013g0049a0002c0010t0013g0050 | 2 | 196 | 0.0102 | 34 | c.117 others(55): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117656941 | G | GAGATATA others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02965.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0067a0001c0004t0005 | a0001c0002t0001g0166a0001c0002t0067g0057a0001c0004t0005g0173 | 3 | 196 | 0.0153 | 34 | c.117 others(55): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117848773 | A | ATGATGGT others(27): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0054 | 1 | 196 | 0.0051 | 34 | c.472 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117848773 | A | ATGATGGT others(27): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0006a0001c0001t0021a0001c0001t0034others(18): Show | a0001c0001t0006g0122a0001c0001t0021g0164a0001c0001t0034g0026others(18): Show | 21 | 196 | 0.1071 | 34 | c.472 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
KYAT1_chr9_128827942_128886950 | 128865359 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 326 | 0.0031 | 34 | c.-7+ others(51): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01993.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0063a0001c0001t0005g0123a0001c0001t0014g0043others(1): Show | 4 | 332 | 0.0121 | 34 | c.730 others(51): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
L2HGDH_chr14_50237434_50317229 | 50316972 | A | ATATCCAG others(27): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0236 | 1 | 360 | 0.0028 | 34 | c.-48 others(45): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 4744 | chr14 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01978.hp2 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0044a0001c0001t0003g0024a0001c0001t0004g0055others(3): Show | 6 | 94 | 0.0638 | 34 | c.120 others(53): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129200270 | A | ATGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG02055.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0012a0002c0004a0002c0035others(6): Show | a0001c0012t0001a0002c0004t0001a0002c0004t0007others(7): Show | a0001c0012t0001g0074a0002c0004t0001g0033a0002c0004t0007g0024others(8): Show | 11 | 88 | 0.1250 | 34 | c.178 others(53): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129200274 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG02897.hp2 HG02922.hp2 |
a0002a0003 | a0002c0026a0003c0059 | a0002c0026t0002a0003c0059t0002 | a0002c0026t0002g0016a0003c0059t0002g0078 | 2 | 88 | 0.0227 | 34 | c.178 others(53): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp1 NA18946.hp1 others(1): Show |
a0001a0002a0013others(1): Show | a0001c0068a0002c0056a0013c0065others(1): Show | a0001c0068t0003a0002c0056t0003a0013c0065t0004others(1): Show | a0001c0068t0003g0069a0002c0056t0003g0077a0013c0065t0004g0072others(1): Show | 4 | 88 | 0.0455 | 34 | c.178 others(55): 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(27): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0027a0003c0004others(1): Show | a0001c0001t0002a0001c0027t0001a0003c0004t0001others(1): Show | a0001c0001t0002g0276a0001c0027t0001g0159a0003c0004t0001g0249others(4): Show | 7 | 280 | 0.0250 | 34 | c.-19 others(45): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar |