| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GDPD4_chr11_77211558_77306686 | 77300118 | TCCTGACT others(21): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0005 | a0001c0001t0003g0175a0001c0001t0005g0003a0001c0001t0005g0176others(4): Show | 8 | 350 | 0.0229 | -28 | c.-25 others(47): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| GEMIN2_chr14_39109323_39141973 | 39132980 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp1 HG01261.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0033a0001c0001t0001g0344a0001c0001t0001g0345others(18): Show | 22 | 424 | 0.0519 | -28 | c.712 others(43): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GEMIN2_chr14_39109323_39141973 | 39133000 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 424 | 0.0024 | -28 | c.712 others(43): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GEN1_chr2_17749138_17793946 | 17778253 | CACACATA others(21): Show |
C | intron_variant | MODIFIER | HG02027.hp2 NA18942.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0127a0001c0001t0001g0130 | 4 | 318 | 0.0126 | -28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GEN1_chr2_17749138_17793946 | 17778295 | TGTGTACA others(21): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18967.hp1 NA20805.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0014a0001c0001t0037a0004c0004t0001 | a0001c0001t0014g0202a0001c0001t0037g0189a0004c0004t0001g0192 | 3 | 318 | 0.0094 | -28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GEN1_chr2_17749138_17793946 | 17778313 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | NA18612.hp1 NA18952.hp1 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0154a0001c0001t0001g0157a0001c0001t0001g0159others(3): Show | 6 | 318 | 0.0189 | -28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GET1_chr21_39375326_39402889 | 39378582 | CCTTTCTT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0115a0001c0001t0002g0132 | 5 | 338 | 0.0148 | -28 | c.-18 others(39): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1743 | chr21 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 871682 | CCCACCCC others(21): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 384 | 0.0026 | -28 | c.-49 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4871 | chr7 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 875427 | TAAATCCA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02965.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(1): Show | a0001c0001t0002g0258a0001c0001t0002g0261a0001c0001t0004g0253others(8): Show | 12 | 384 | 0.0313 | -28 | c.-12 others(39): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1126 | chr7 | TogoVar | ||||||
| GFM2_chr5_74716206_74772117 | 74721041 | AATATCAA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02723.hp2 others(8): Show |
a0002a0012 | a0002c0006a0012c0019 | a0002c0006t0001a0012c0019t0001 | a0002c0006t0001g0127a0002c0006t0001g0132a0002c0006t0001g0136others(8): Show | 11 | 372 | 0.0296 | -28 | c.*58 others(37): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 164 | chr5 | TogoVar | ||||||
| GFRA1_chr10_116051925_116278206 | 116196679 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA18952.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0027a0002c0003t0001 | a0001c0002t0027g0052a0002c0003t0001g0133 | 2 | 214 | 0.0094 | -28 | c.433 others(47): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
| GFRA2_chr8_21685398_21793875 | 21763950 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG02055.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0060a0001c0001t0003g0226a0001c0001t0005g0238others(14): Show | 17 | 322 | 0.0528 | -28 | c.439 others(47): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
| GFRA3_chr5_138247380_138279621 | 138250164 | CAAAAAAA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 376 | 0.0027 | -28 | c.*27 others(39): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 2215 | chr5 | TogoVar | ||||||
| GGA3_chr17_75231599_75266606 | 75248793 | AACAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0237 | 1 | 364 | 0.0028 | -28 | c.41- others(43): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24605554 | TTATATAA others(21): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01433.hp1 HG02155.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0026a0002c0002t0005 | a0001c0001t0001g0049a0001c0001t0001g0184a0001c0001t0001g0246others(4): Show | 7 | 426 | 0.0164 | -28 | c.-42 others(47): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605642 | ATAATATT others(21): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp1 HG02080.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0056a0001c0001t0001g0070others(5): Show | 8 | 426 | 0.0188 | -28 | c.-42 others(47): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605766 | TTATATAA others(21): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0309 | 1 | 426 | 0.0024 | -28 | c.-42 others(47): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605794 | ATATATGA others(21): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01515.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0014a0001c0009t0001 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0014g0097others(1): Show | 5 | 426 | 0.0117 | -28 | c.-42 others(47): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605822 | TTATATGA others(21): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0143a0001c0001t0001g0188others(1): Show | 4 | 426 | 0.0094 | -28 | c.-42 others(47): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24611531 | CTATCTAT others(21): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0019 | a0001c0007t0019g0259 | 1 | 426 | 0.0024 | -28 | c.164 others(43): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24611535 | CTATCTAT others(21): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0265a0002c0003t0008g0266 | 2 | 426 | 0.0047 | -28 | c.164 others(43): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
| GH1_chr17_63912203_63923839 | 63912753 | GTTTCTTT others(21): Show |
G | downstream_gene_variant | MODIFIER | HG02132.hp2 HG02965.hp2 HG03490.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0019others(1): Show | 17 | 420 | 0.0405 | -28 | c.*45 others(39): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4449 | chr17 | TogoVar | ||||||
| GH2_chr17_63875215_63886944 | 63875552 | TTTTCTTT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01884.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0011others(2): Show | 31 | 426 | 0.0728 | -28 | c.*47 others(39): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4662 | chr17 | TogoVar | ||||||
| GH2_chr17_63875215_63886944 | 63875585 | TTTCTTTC others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -28 | c.*47 others(39): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4629 | chr17 | TogoVar | ||||||
| GH2_chr17_63875215_63886944 | 63886650 | CTCTTTTC others(21): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 426 | 0.0047 | -28 | c.-48 others(39): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4707 | chr17 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42564157 | AGTGTGAG others(21): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01975.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0031a0001c0001t0002g0057a0001c0001t0002g0137others(12): Show | 15 | 210 | 0.0714 | -28 | c.-11 others(45): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42564185 | TGTGTGAG others(21): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG02083.hp1 |
a0003 | a0003c0003a0003c0005 | a0003c0003t0003a0003c0005t0002 | a0003c0003t0003g0121a0003c0003t0003g0153a0003c0005t0002g0201 | 3 | 210 | 0.0143 | -28 | c.-11 others(45): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42564297 | AGTGTGAG others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00733.hp1 others(75): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0035others(75): Show | 78 | 210 | 0.3714 | -28 | c.-11 others(45): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42576115 | AAATAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01515.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0008t0007a0002c0002t0001 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0056others(4): Show | 7 | 210 | 0.0333 | -28 | c.70+ others(45): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GIGYF1_chr7_100674507_100699250 | 100680929 | GAACCAGA others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 NA18982.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0025 | a0001c0001t0022a0001c0001t0060a0001c0025t0022 | a0001c0001t0022g0184a0001c0001t0022g0197a0001c0001t0060g0181others(1): Show | 4 | 398 | 0.0101 | -28 | c.*76 others(37): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 27/27 | 762 | chr7 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02970.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0003a0002c0006t0028 | a0001c0003t0003g0018a0001c0003t0003g0173a0002c0006t0028g0369 | 3 | 376 | 0.0080 | -28 | c.276 others(47): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232836303 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA18973.hp1 |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0092a0002c0001t0004g0099 | 2 | 376 | 0.0053 | -28 | c.276 others(47): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232836322 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243a0001c0002t0001g0244 | 2 | 376 | 0.0053 | -28 | c.276 others(47): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232843133 | CTGTGTGT others(21): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02004.hp1 others(2): Show |
a0002a0013 | a0002c0001a0002c0020a0013c0019 | a0002c0001t0004a0002c0020t0004a0013c0019t0004 | a0002c0001t0004g0100a0002c0001t0004g0103a0002c0001t0004g0114others(2): Show | 5 | 376 | 0.0133 | -28 | c.289 others(45): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GINM1_chr6_149561375_149596748 | 149562262 | TTATATAT others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043a0001c0001t0006g0046 | 2 | 380 | 0.0053 | -28 | c.-41 others(39): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4112 | chr6 | TogoVar | ||||||
| GINM1_chr6_149561375_149596748 | 149570136 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 380 | 0.0026 | -28 | c.121 others(45): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 360 | 0.0028 | -28 | c.447 others(45): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| GJA9_chr1_38869069_38886587 | 38883298 | TACACACA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 444 | 0.0023 | -28 | c.-19 others(39): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1712 | chr1 | TogoVar | ||||||
| GJA9_chr1_38869069_38886587 | 38884573 | AAAATAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01257.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0025 | 2 | 444 | 0.0045 | -28 | c.-32 others(39): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 2987 | chr1 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134290167 | GTTCAGCC others(21): Show |
G | intron_variant | MODIFIER | HG02698.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155a0001c0002t0001g0156 | 2 | 422 | 0.0047 | -28 | c.729 others(45): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1L3_chr11_134271379_134324564 | 134308475 | TACCACCA others(21): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03139.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0173a0001c0001t0001g0189a0001c0001t0002g0370others(2): Show | 5 | 422 | 0.0119 | -28 | c.962 others(45): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GLB1_chr3_32991617_33102146 | 33087579 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0002a0001c0010t0001a0001c0011t0001 | a0001c0001t0002g0226a0001c0001t0002g0227a0001c0010t0001g0230others(4): Show | 7 | 394 | 0.0178 | -28 | c.75+ others(43): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| GLCCI1_chr7_7963796_8094080 | 7992043 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0218 | 1 | 416 | 0.0024 | -28 | c.458 others(47): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GLCE_chr15_69155635_69277207 | 69226042 | GCACAGAC others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(135): Show | 142 | 342 | 0.4152 | -28 | c.-14 others(47): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GLDC_chr9_6527467_6650729 | 6619355 | CTTTTTGT others(21): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 342 | 0.0029 | -28 | c.470 others(43): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
| GLI2_chr2_120730868_120997653 | 120886183 | TGTGTGTG others(21): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0025 | a0001c0025t0011 | a0001c0025t0011g0053 | 1 | 160 | 0.0063 | -28 | c.149 others(47): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GLI2_chr2_120730868_120997653 | 120886188 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03453.hp1 NA18522.hp1 |
a0001a0005 | a0001c0002a0001c0007a0005c0010 | a0001c0002t0010a0001c0007t0010a0005c0010t0002 | a0001c0002t0010g0113a0001c0007t0010g0104a0005c0010t0002g0033 | 3 | 160 | 0.0188 | -28 | c.149 others(47): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GLI3_chr7_41955949_42242209 | 41968735 | AGAAAGAA others(21): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0146 | 1 | 158 | 0.0063 | -28 | c.210 others(45): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
| GLIS3_chr9_3819127_4305068 | 3859350 | AACACACA others(21): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(64): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0014a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0121a0001c0001t0002g0154a0001c0001t0004g0020others(64): Show | 67 | 188 | 0.3564 | -28 | c.229 others(47): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
| GLIS3_chr9_3819127_4305068 | 3868814 | TTTGTATA others(21): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(180): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0001c0012others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(122): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(180): Show | 183 | 188 | 0.9734 | -28 | c.229 others(49): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar |