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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GIGYF2_chr2_232692331_232865605 | 232762227 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01175.hp1 others(11): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0029others(1): Show | a0002c0001t0002g0109a0002c0001t0004g0036a0002c0001t0004g0037others(11): Show | 14 | 376 | 0.0372 | -11 | c.532 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232797981 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0081 | 1 | 376 | 0.0027 | -11 | c.163 others(30): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232813187 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA18972.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0012a0001c0003t0006 | a0001c0002t0012g0300a0001c0002t0012g0301a0001c0003t0006g0163 | 3 | 376 | 0.0080 | -11 | c.210 others(28): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232827981 | CTTTTCTT others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0280 | 1 | 376 | 0.0027 | -11 | c.253 others(30): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232841461 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0370 | 1 | 376 | 0.0027 | -11 | c.288 others(30): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232855080 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(36): Show |
a0001a0004a0008others(1): Show | a0001c0005a0001c0010a0004c0011others(2): Show | a0001c0005t0001a0001c0005t0008a0001c0005t0022others(4): Show | a0001c0005t0001g0194a0001c0005t0001g0195a0001c0005t0001g0197others(36): Show | 39 | 376 | 0.1037 | -11 | c.383 others(30): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMD1_chr4_106352392_106373778 | 106354242 | CACACACA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 452 | 0.0022 | -11 | c.*39 others(22): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 3149 | chr4 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562291 | TATATATA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 380 | 0.0026 | -11 | c.-41 others(22): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4083 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562301 | TATATATA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 380 | 0.0026 | -11 | c.-41 others(22): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4073 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149570187 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0282a0001c0001t0003g0099 | 2 | 380 | 0.0053 | -11 | c.121 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GINM1_chr6_149561375_149596748 | 149578525 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0023 | a0001c0002t0013g0040a0001c0002t0023g0041 | 2 | 380 | 0.0053 | -11 | c.278 others(26): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25423452 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0188a0001c0001t0009g0016a0001c0001t0010g0014 | 3 | 360 | 0.0083 | -11 | c.331 others(28): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85687726 | AAGCGCCT others(4): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0154a0001c0001t0002g0155others(2): Show | 8 | 470 | 0.0170 | -11 | c.91- others(24): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58408440 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(77): Show | 165 | 434 | 0.3802 | -11 | c.*37 others(22): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 2294 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41530778 | TTCTCCTT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0058others(22): Show | 47 | 426 | 0.1103 | -11 | c.96+ others(24): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GINS4_chr8_41524261_41550030 | 41546849 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02622.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0045a0001c0001t0013g0127 | 3 | 426 | 0.0070 | -11 | c.*47 others(22): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14479330 | TGACAAGA others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(150): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0006others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(36): Show | a0001c0002t0001g0117a0001c0002t0001g0124a0001c0002t0001g0224others(132): Show | 153 | 444 | 0.3446 | -11 | c.768 others(24): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 7/8 | chr19 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14481719 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(124): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(34): Show | a0001c0002t0001g0117a0001c0002t0001g0124a0001c0002t0001g0224others(111): Show | 127 | 444 | 0.2860 | -11 | c.289 others(26): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78083143 | CAGGTCCA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0002a0001c0004t0007 | a0001c0001t0003g0110a0001c0001t0003g0113a0001c0001t0003g0114others(7): Show | 10 | 332 | 0.0301 | -11 | c.426 others(28): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC2_chr1_78040966_78143444 | 78118247 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(103): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0015others(1): Show | a0001c0001t0008a0002c0002t0001a0002c0002t0011others(6): Show | a0001c0001t0008g0235a0001c0001t0008g0237a0001c0001t0008g0238others(100): Show | 106 | 332 | 0.3193 | -11 | c.608 others(28): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp1 HG02129.hp2 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0006t0009others(1): Show | a0001c0001t0002g0044a0001c0001t0005g0041a0001c0001t0005g0321others(3): Show | 6 | 332 | 0.0181 | -11 | c.*66 others(22): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78142627 | AATAGGAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 332 | 0.0030 | -11 | c.*68 others(22): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 4184 | chr1 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3594983 | GGCACGAG others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0049 | 1 | 430 | 0.0023 | -11 | c.*47 others(22): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 1443 | chr19 | TogoVar | ||||||
GIPR_chr19_45663221_45688722 | 45667471 | CAACAGAG others(4): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 416 | 0.0024 | -11 | c.-87 others(20): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 749 | chr19 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109958099 | CATGCCTG others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0034a0001c0003t0007g0035a0001c0003t0007g0036others(3): Show | 6 | 242 | 0.0248 | -11 | c.109 others(30): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 12/19 | chr12 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89899921 | TCACTGTC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 386 | 0.0026 | -11 | c.*38 others(22): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 3802 | chr6 | TogoVar | ||||||
GJA3_chr13_20133255_20166052 | 20137353 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02055.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0003others(3): Show | a0001c0001t0003g0135a0001c0001t0004g0149a0001c0001t0004g0273others(11): Show | 15 | 392 | 0.0383 | -11 | c.*46 others(22): Show |
GJA3 | ENSG00000121743.4 | transcript | ENST00000241125.4 | protein_coding | 901 | chr13 | TogoVar | ||||||
GJA3_chr13_20133255_20166052 | 20159456 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0138 | 1 | 392 | 0.0026 | -11 | c.-18 others(28): Show |
GJA3 | ENSG00000121743.4 | transcript | ENST00000241125.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
GJA4_chr1_34787999_34800747 | 34799374 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0008a0001c0002t0001a0003c0005t0001 | a0001c0001t0008g0001a0001c0002t0001g0001a0003c0005t0001g0001others(3): Show | 21 | 416 | 0.0505 | -11 | c.*41 others(22): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 3628 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38870799 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18954.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 444 | 0.0045 | -11 | c.*37 others(22): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 3269 | chr1 | TogoVar | ||||||
GJB6_chr13_20216962_20237319 | 20228691 | AGCCAGGA others(4): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0363 | 1 | 460 | 0.0022 | -11 | c.-16 others(26): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
GJB6_chr13_20216962_20237319 | 20229315 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 2 | 460 | 0.0044 | -11 | c.-16 others(26): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
GJB6_chr13_20216962_20237319 | 20237308 | CCATAACA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(314): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(255): Show | 317 | 460 | 0.6891 | -11 | c.-55 others(22): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 4990 | chr13 | TogoVar | ||||||
GJB7_chr6_87277980_87334278 | 87315795 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0184 | 1 | 382 | 0.0026 | -11 | c.-28 others(28): Show |
GJB7 | ENSG00000164411.12 | transcript | ENST00000525899.6 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44825188 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0105a0001c0001t0022g0106 | 2 | 380 | 0.0053 | -11 | c.-97 others(28): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746232 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0002a0001c0001t0008g0008 | 2 | 446 | 0.0045 | -11 | c.*62 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4799 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746234 | AAAAAAAT others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp1 NA18747.hp1 NA18941.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0029others(1): Show | 13 | 446 | 0.0292 | -11 | c.*62 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4797 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746236 | AAAAATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01081.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0029others(7): Show | 36 | 446 | 0.0807 | -11 | c.*62 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4795 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746238 | AAATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01346.hp2 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0008g0008others(2): Show | 8 | 446 | 0.0179 | -11 | c.*62 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4793 | chr15 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0066 | 1 | 446 | 0.0022 | -11 | c.*62 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | ||||||
GJD4_chr10_35600341_35613935 | 35611857 | ACTCAGGG others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(178): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0013others(22): Show | 181 | 440 | 0.4114 | -11 | c.*32 others(22): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 2923 | chr10 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142212753 | TACTATAC others(4): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0046 | a0001c0001t0006g0030a0001c0001t0046g0239 | 2 | 272 | 0.0074 | -11 | c.317 others(26): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30672159 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101a0001c0001t0008g0165 | 2 | 286 | 0.0070 | -11 | c.259 others(28): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30683888 | CCTTGGGC others(4): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 286 | 0.0035 | -11 | c.337 others(28): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30718262 | AAGAAGCA others(4): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 286 | 0.0035 | -11 | c.976 others(26): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 13/20 | chrX | TogoVar | ||||||
GLB1L2_chr11_134326988_134381324 | 134349050 | TGTCTATC others(4): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 414 | 0.0024 | -11 | c.558 others(28): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134314876 | TTTTACTT others(4): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0344 | 1 | 422 | 0.0024 | -11 | c.177 others(28): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L_chr2_219231598_219250444 | 219241430 | GTGTGTGT others(4): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 410 | 0.0024 | -11 | c.451 others(28): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33018285 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(107): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0078others(107): Show | 110 | 394 | 0.2792 | -11 | c.134 others(28): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 13/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031633 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 394 | 0.0025 | -11 | c.106 others(30): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar |