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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSE1_chr16_85608322_85681200 | 85671439 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01255.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0001c0001t0011a0001c0001t0028others(3): Show | a0001c0001t0003g0020a0001c0001t0011g0136a0001c0001t0011g0269others(5): Show | 8 | 290 | 0.0276 | 7 | c.351 others(24): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GSG1L2_chr17_9795608_9827079 | 9811979 | G | GTCACTTA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(18): Show | a0001c0001t0001g0222a0001c0001t0001g0262a0001c0001t0005g0219others(71): Show | 77 | 474 | 0.1625 | 7 | c.311 others(24): Show |
GSG1L2 | ENSG00000214978.8 | transcript | ENST00000399363.5 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27850023 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0091a0001c0001t0002g0117a0001c0001t0002g0193others(21): Show | 24 | 240 | 0.1000 | 7 | c.551 others(24): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27891884 | C | CTTTTTTT | intron_variant | MODIFIER | HG02071.hp2 HG02155.hp1 HG02165.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0077a0001c0001t0002g0040a0001c0001t0003g0206others(2): Show | 5 | 240 | 0.0208 | 7 | c.398 others(24): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27946656 | A | AAAGAAAG | intron_variant | MODIFIER | HG01433.hp1 HG01978.hp1 HG02080.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0199a0001c0001t0003g0112a0001c0001t0004g0166others(6): Show | 9 | 240 | 0.0375 | 7 | c.397 others(26): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27973439 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0152a0001c0001t0002g0147a0001c0001t0003g0125others(4): Show | 7 | 240 | 0.0292 | 7 | c.350 others(26): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13099750 | G | GTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0079a0001c0001t0001g0119a0001c0001t0001g0120others(5): Show | 8 | 448 | 0.0179 | 7 | c.48+ others(22): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13099759 | T | TTTTTTTG | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp1 others(61): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(35): Show | 64 | 448 | 0.1429 | 7 | c.48+ others(22): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119971601 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0122a0001c0001t0001g0139a0001c0001t0001g0141others(4): Show | 7 | 300 | 0.0233 | 7 | c.283 others(26): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
GSN_chr9_121263162_121337842 | 121306506 | T | TATATATC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(75): Show | 96 | 322 | 0.2981 | 7 | c.351 others(24): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GSPT1_chr16_11863128_11920956 | 11892506 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01123.hp1 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0013a0001c0013t0025 | a0001c0001t0001g0197a0001c0001t0001g0207a0001c0001t0001g0210others(3): Show | 6 | 372 | 0.0161 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892517 | A | AAAATAAT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00639.hp2 others(73): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0020 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0002g0224a0002c0002t0001g0266a0002c0002t0002g0002others(70): Show | 76 | 372 | 0.2043 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892829 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG01934.hp2 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(4): Show | a0001c0001t0001g0233a0001c0001t0001g0246a0001c0001t0006g0134others(17): Show | 22 | 372 | 0.0591 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01993.hp2 others(9): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0009a0005c0012others(1): Show | a0003c0003t0003a0003c0003t0020a0003c0003t0054others(3): Show | a0003c0003t0003g0092a0003c0003t0003g0110a0003c0003t0003g0111others(9): Show | 12 | 372 | 0.0323 | 7 | c.352 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11915150 | G | GGCGCGCT | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0252a0001c0001t0001g0253 | 3 | 372 | 0.0081 | 7 | c.352 others(22): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30676806 | C | CAGCAGAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(327): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(325): Show | 330 | 348 | 0.9483 | 7 | c.*27 others(18): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 1259 | chr8 | TogoVar | ||||||
GSTA1_chr6_52786371_52808816 | 52806965 | C | CAAACATT | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0087others(1): Show | 4 | 436 | 0.0092 | 7 | c.-32 others(18): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3150 | chr6 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105725071 | A | AATTGAAT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0069a0001c0001t0003g0094others(38): Show | 42 | 186 | 0.2258 | 7 | c.895 others(24): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTM2_chr1_109663057_109680286 | 109664341 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(11): Show | 37 | 356 | 0.1039 | 7 | c.-37 others(18): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109664341 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(23): Show | 34 | 364 | 0.0934 | 7 | c.*30 others(18): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp2 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0047others(10): Show | 55 | 378 | 0.1455 | 7 | c.-45 others(18): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104272587 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01934.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0014 | a0001c0002t0001g0031a0002c0001t0001g0010a0002c0001t0001g0213others(3): Show | 8 | 300 | 0.0267 | 7 | c.-23 others(26): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104293869 | G | GGTTGACA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0019a0001c0002t0035others(6): Show | a0001c0002t0013g0013a0001c0002t0013g0041a0001c0002t0019g0052others(8): Show | 12 | 300 | 0.0400 | 7 | c.469 others(24): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTT4_chr22_23993401_24010453 | 23998440 | G | GTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 HG04184.hp1 NA18971.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0006a0003c0003t0005g0045a0003c0003t0005g0048 | 6 | 161 | 0.0373 | 7 | c.*95 others(15): Show |
GSTT4 | ENSG00000276950.6 | transcript | ENST00000621179.6 | protein_coding | 5/5 | 101 | chr22 | TogoVar | |||||
GSX2_chr4_54095163_54107498 | 54097589 | G | GGGGGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(4): Show | 215 | 372 | 0.5780 | 7 | c.-27 others(18): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 2573 | chr4 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0002t0001g0003others(1): Show | 96 | 372 | 0.2581 | 7 | c.*25 others(18): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144133151 | A | ATATATAT | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0003a0008 | a0003c0010a0008c0011 | a0003c0010t0001a0008c0011t0021 | a0003c0010t0001g0045a0008c0011t0021g0077 | 2 | 124 | 0.0161 | 7 | c.521 others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144242960 | T | TAAAAAAA | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0001a0001c0003t0018others(1): Show | a0001c0001t0005g0090a0001c0003t0001g0105a0001c0003t0018g0084others(1): Show | 4 | 124 | 0.0323 | 7 | c.-15 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A1_chr14_81170452_81225959 | 81223829 | C | CAGTATGT | upstream_gene_variant | MODIFIER | HG00621.hp2 HG03831.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0142a0001c0001t0001g0146others(1): Show | 5 | 350 | 0.0143 | 7 | c.-33 others(18): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2871 | chr14 | TogoVar | ||||||
GTF2A2_chr15_59633062_59662515 | 59658155 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG03516.hp1 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0018a0001c0001t0002g0229a0001c0001t0003g0010others(3): Show | 9 | 436 | 0.0206 | 7 | c.-80 others(16): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 641 | chr15 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45212462 | T | TTCTTTTC | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0002t0001g0173 | 3 | 210 | 0.0143 | 7 | c.386 others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45228669 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01192.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0041others(28): Show | 31 | 210 | 0.1476 | 7 | c.386 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0014others(11): Show | 16 | 370 | 0.0432 | 7 | c.*19 others(18): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169679 | A | ATGTATAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01192.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(15): Show | a0001c0001t0001g0154a0001c0001t0017g0015a0001c0001t0017g0284others(22): Show | 27 | 384 | 0.0703 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158169700 | A | ATATATTG | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0111a0001c0001t0123 | a0001c0001t0001g0154a0001c0001t0111g0027a0001c0001t0123g0027 | 3 | 384 | 0.0078 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158169759 | G | GTATATTA | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0192a0001c0001t0044g0193a0001c0001t0107g0073others(2): Show | 5 | 384 | 0.0130 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158169808 | A | ATATATTG | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0192a0001c0001t0044g0193a0001c0001t0107g0073others(2): Show | 5 | 384 | 0.0130 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158176799 | C | CTATAGAT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058a0001c0001t0011g0064a0001c0001t0011g0065 | 3 | 384 | 0.0078 | 7 | c.35+ others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2IRD1_chr7_74448906_74607605 | 74518112 | G | GCCCCTCT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02615.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0226a0002c0003t0001g0230a0002c0003t0001g0231others(1): Show | 4 | 262 | 0.0153 | 7 | c.422 others(20): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD1_chr7_74448906_74607605 | 74568337 | T | TAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0018others(84): Show | 87 | 262 | 0.3321 | 7 | c.232 others(26): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD1_chr7_74448906_74607605 | 74568337 | T | TTAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0004 | a0002c0005t0001g0063a0002c0005t0001g0122a0002c0005t0001g0217others(7): Show | 10 | 262 | 0.0382 | 7 | c.232 others(26): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | chr7 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01433.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0061others(8): Show | 11 | 170 | 0.0647 | 7 | c.239 others(24): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | ATATATAT | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(1): Show | 4 | 252 | 0.0159 | 7 | c.111 others(24): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110960677 | A | ATAAATAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(144): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(31): Show | 147 | 346 | 0.4249 | 7 | c.247 others(20): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTPBP1_chr22_38700944_38738587 | 38714478 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0005a0001c0002t0004g0056a0001c0002t0004g0057others(3): Show | 14 | 382 | 0.0367 | 7 | c.305 others(24): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GTPBP4_chr10_983434_1024932 | 1015473 | C | CCTGAGCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0037a0001c0002t0047others(2): Show | a0001c0002t0005g0014a0001c0002t0005g0015a0001c0002t0005g0016others(15): Show | 21 | 370 | 0.0568 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GTPBP4_chr10_983434_1024932 | 1015605 | C | CCTGAGCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0037a0001c0002t0047others(2): Show | a0001c0002t0005g0014a0001c0002t0005g0015a0001c0002t0005g0016others(15): Show | 21 | 370 | 0.0568 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GTPBP4_chr10_983434_1024932 | 1015612 | G | GCTGAGCA | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0027a0001c0002t0017g0166 | 3 | 370 | 0.0081 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 321483 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 155 | 0.0065 | 7 | c.-26 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2688 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321763 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG02258.hp2 HG06807.hp1 |
a0006a0012 | a0006c0011a0012c0013 | a0006c0011t0003a0012c0013t0001 | a0006c0011t0003g0144a0012c0013t0001g0146 | 2 | 155 | 0.0129 | 7 | c.-29 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2968 | chrX | TogoVar |