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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFM2_chr5_74716206_74772117 | 74721782 | C | T | missense_variant others(1): Show |
MODERATE | NA18963.hp2 | a0016 | a0016c0014 | a0016c0014t0003 | a0016c0014t0003g0258 | 1 | 372 | 0.0027 | 0 | c.221 others(4): Show |
p.Gly others(6): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 21/21 | 2417/2993 | 2213/2340 | 738/779 | chr5 | TogoVar | ||
GFM2_chr5_74716206_74772117 | 74738420 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(39): Show |
a0003a0005a0008others(1): Show | a0003c0003a0005c0007a0008c0013others(1): Show | a0003c0003t0001a0005c0007t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0011a0003c0003t0001g0012a0003c0003t0001g0038others(32): Show | 42 | 372 | 0.1129 | 0 | c.122 others(6): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 13/20 | chr5 | TogoVar | ||||||
GFOD2_chr16_67669536_67724316 | 67676052 | A | G | splice_region_variant others(1): Show |
LOW | HG01358.hp2 HG01496.hp2 HG01952.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0087a0001c0002t0006g0009 | 3 | 186 | 0.0161 | 0 | c.261 others(3): Show |
p.Gly others(5): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 3/3 | 502/2018 | 261/1158 | 87/385 | chr16 | TogoVar | ||
GFPT1_chr2_69314780_69392227 | 69338059 | T | C | splice_region_variant others(1): Show |
LOW | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 366 | 0.0027 | 0 | c.132 others(6): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 14/19 | chr2 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69345897 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(246): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(40): Show | a0001c0001t0002g0004a0001c0001t0002g0010a0001c0001t0002g0012others(233): Show | 249 | 366 | 0.6803 | 0 | c.110 others(6): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 12/19 | chr2 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69359261 | T | A | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02559.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0040a0001c0001t0009g0041a0001c0001t0009g0042others(3): Show | 6 | 366 | 0.0164 | 0 | c.408 others(5): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69369996 | G | A | splice_region_variant others(1): Show |
LOW | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 366 | 0.0027 | 0 | c.223 others(5): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 3/19 | chr2 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180318963 | C | T | splice_region_variant others(1): Show |
LOW | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0120 | 1 | 412 | 0.0024 | 0 | c.795 others(5): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 9/18 | chr5 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116211644 | A | G | splice_region_variant others(1): Show |
LOW | HG01361.hp2 | a0001 | a0001c0010 | a0001c0010t0109 | a0001c0010t0109g0068 | 1 | 214 | 0.0047 | 0 | c.420 others(3): Show |
p.Asp others(6): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/11 | 710/9161 | 420/1398 | 140/465 | chr10 | TogoVar | ||
GFRA1_chr10_116051925_116278206 | 116271115 | T | G | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02451.hp1 HG02615.hp1 others(1): Show |
a0003 | a0003c0006a0003c0015 | a0003c0006t0001a0003c0006t0023a0003c0006t0093others(1): Show | a0003c0006t0001g0047a0003c0006t0023g0048a0003c0006t0093g0045others(1): Show | 4 | 214 | 0.0187 | 0 | c.41A others(2): Show |
p.Asp others(5): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 3/11 | 331/9161 | 41/1398 | 14/465 | chr10 | TogoVar | ||
GFRA1_chr10_116051925_116278206 | 116271985 | C | A | splice_region_variant others(1): Show |
LOW | NA19030.hp2 | a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0168 | 1 | 214 | 0.0047 | 0 | c.40+ others(4): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116272279 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(37): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0102a0001c0001t0001g0108a0001c0001t0001g0128others(37): Show | 40 | 214 | 0.1869 | 0 | c.-24 others(6): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21775059 | G | A | splice_region_variant others(1): Show |
LOW | HG03516.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0005a0001c0004t0013a0001c0006t0009others(1): Show | a0001c0001t0005g0231a0001c0004t0013g0232a0001c0006t0009g0243others(1): Show | 4 | 322 | 0.0124 | 0 | c.356 others(5): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
GFRA3_chr5_138247380_138279621 | 138264255 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 376 | 0.0027 | 0 | c.379 others(5): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
GFRA4_chr20_3654248_3668399 | 3659994 | G | A | splice_region_variant others(1): Show |
LOW | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 450 | 0.0022 | 0 | c.730 others(5): Show |
GFRA4 | ENSG00000125861.16 | transcript | ENST00000290417.7 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
GFRA4_chr20_3654248_3668399 | 3659994 | G | C | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0006a0001c0006t0006 | a0001c0004t0006g0008a0001c0004t0006g0065a0001c0006t0006g0026others(1): Show | 10 | 450 | 0.0222 | 0 | c.730 others(5): Show |
GFRA4 | ENSG00000125861.16 | transcript | ENST00000290417.7 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
GFRA4_chr20_3654248_3668399 | 3660749 | G | A | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 450 | 0.0022 | 0 | c.502 others(5): Show |
GFRA4 | ENSG00000125861.16 | transcript | ENST00000290417.7 | protein_coding | 3/5 | chr20 | TogoVar | ||||||
GFRA4_chr20_3654248_3668399 | 3660751 | G | T | splice_region_variant others(1): Show |
LOW | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071 | 1 | 450 | 0.0022 | 0 | c.502 others(5): Show |
GFRA4 | ENSG00000125861.16 | transcript | ENST00000290417.7 | protein_coding | 3/5 | chr20 | TogoVar | ||||||
GGA1_chr22_37603834_37638564 | 37614282 | G | C | splice_region_variant others(1): Show |
LOW | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 370 | 0.0027 | 0 | c.128 others(5): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 2/16 | chr22 | TogoVar | ||||||
GGA1_chr22_37603834_37638564 | 37625789 | C | T | splice_region_variant others(1): Show |
LOW | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 370 | 0.0054 | 0 | c.941 others(5): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 10/16 | chr22 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23510322 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0067others(129): Show | 139 | 254 | 0.5472 | 0 | c.90C others(2): Show |
p.Leu others(5): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 1/17 | 173/5973 | 90/1842 | 30/613 | chr16 | TogoVar | ||
GGA3_chr17_75231599_75266606 | 75241056 | T | C | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0054 | 1 | 364 | 0.0028 | 0 | c.948 others(3): Show |
p.Gly others(6): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 11/17 | 967/3871 | 948/2172 | 316/723 | chr17 | TogoVar | ||
GGA3_chr17_75231599_75266606 | 75242328 | G | A | splice_region_variant others(1): Show |
LOW | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 364 | 0.0028 | 0 | c.747 others(5): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 8/16 | chr17 | TogoVar | ||||||
GGA3_chr17_75231599_75266606 | 75244611 | T | C | splice_region_variant others(1): Show |
LOW | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 364 | 0.0028 | 0 | c.300 others(5): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 4/16 | chr17 | TogoVar | ||||||
GGACT_chr13_100525180_100593789 | 100588735 | C | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00673.hp1 HG02257.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0018a0001c0001t0001g0315a0001c0001t0001g0316others(36): Show | 40 | 376 | 0.1064 | 0 | c.-18 others(6): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
GGCX_chr2_85539720_85566493 | 85554310 | C | T | splice_region_variant others(1): Show |
LOW | NA18961.hp1 NA19055.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0031 | 2 | 410 | 0.0049 | 0 | c.726 others(5): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
GGCX_chr2_85539720_85566493 | 85556264 | C | T | splice_region_variant others(1): Show |
LOW | NA19076.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 410 | 0.0024 | 0 | c.540 others(5): Show |
GGCX | ENSG00000115486.13 | transcript | ENST00000233838.9 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36567659 | A | G | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00733.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0337a0001c0002t0004g0338a0001c0002t0004g0339others(8): Show | 11 | 357 | 0.0308 | 0 | c.528 others(5): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 5/13 | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36579240 | T | C | splice_region_variant others(1): Show |
LOW | HG02129.hp2 HG02165.hp1 NA18943.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027a0001c0002t0003g0029a0001c0002t0003g0037others(4): Show | 7 | 357 | 0.0196 | 0 | c.846 others(5): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 7/13 | chr17 | TogoVar | ||||||
GGN_chr19_38379267_38393034 | 38387283 | A | G | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01106.hp1 HG02109.hp1 others(2): Show |
a0007a0019 | a0007c0008a0007c0017a0019c0021 | a0007c0008t0001a0007c0017t0001a0019c0021t0001 | a0007c0008t0001g0017a0007c0008t0001g0034a0007c0017t0001g0032others(1): Show | 5 | 392 | 0.0128 | 0 | c.-19 others(5): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
GGPS1_chr1_235323570_235349532 | 235341998 | A | AT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0008others(45): Show | 114 | 392 | 0.2908 | 1 | c.142 others(6): Show |
GGPS1 | ENSG00000152904.11 | transcript | ENST00000282841.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24611252 | A | G | splice_region_variant others(1): Show |
LOW | HG02615.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0251 | 1 | 426 | 0.0024 | 0 | c.164 others(5): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24621069 | C | T | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01106.hp1 HG01243.hp2 |
a0001 | a0001c0008 | a0001c0008t0001a0001c0008t0028 | a0001c0008t0001g0130a0001c0008t0001g0132a0001c0008t0028g0131 | 3 | 426 | 0.0070 | 0 | c.732 others(3): Show |
p.Ala others(6): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 9/16 | 1495/2630 | 732/1710 | 244/569 | chr22 | TogoVar | ||
GGT5_chr22_24214660_24250082 | 24233493 | G | A | splice_region_variant others(1): Show |
LOW | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 420 | 0.0024 | 0 | c.400 others(5): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 3/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24233493 | G | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02145.hp1 HG02559.hp2 others(8): Show |
a0001a0011 | a0001c0001a0001c0024a0011c0019 | a0001c0001t0001a0001c0024t0001a0011c0019t0001 | a0001c0001t0001g0002a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 11 | 420 | 0.0262 | 0 | c.400 others(5): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 3/11 | chr22 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24234011 | G | A | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 420 | 0.0024 | 0 | c.174 others(5): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4560382 | C | G | missense_variant others(1): Show |
MODERATE | NA19083.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0053 | 1 | 458 | 0.0022 | 0 | c.140 others(3): Show |
p.Arg others(5): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 1/4 | 196/2644 | 140/1500 | 47/499 | chr17 | TogoVar | ||
GGT6_chr17_4551927_4565577 | 4560383 | T | G | splice_region_variant others(1): Show |
LOW | NA19083.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0053 | 1 | 458 | 0.0022 | 0 | c.139 others(3): Show |
p.Arg others(5): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 1/4 | 195/2644 | 139/1500 | 47/499 | chr17 | TogoVar | ||
GGT7_chr20_34839720_34877856 | 34872647 | C | G | missense_variant others(1): Show |
MODERATE | NA18946.hp1 | a0007 | a0007c0013 | a0007c0013t0017 | a0007c0013t0017g0049 | 1 | 354 | 0.0028 | 0 | c.169 others(3): Show |
p.Asp others(5): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 1/15 | 210/2638 | 169/1989 | 57/662 | chr20 | TogoVar | ||
GGT7_chr20_34839720_34877856 | 34872649 | G | T | missense_variant others(1): Show |
MODERATE | NA18946.hp1 | a0007 | a0007c0013 | a0007c0013t0017 | a0007c0013t0017g0049 | 1 | 354 | 0.0028 | 0 | c.167 others(3): Show |
p.Thr others(5): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 1/15 | 208/2638 | 167/1989 | 56/662 | chr20 | TogoVar | ||
GGTA1_chr9_121450040_121504844 | 121463285 | G | A | splice_region_variant others(1): Show |
LOW | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 338 | 0.0030 | 0 | c.116 others(5): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
GGTLC1_chr20_23980053_23993779 | 23985979 | G | A | splice_region_variant others(1): Show |
LOW | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 436 | 0.0023 | 0 | c.305 others(5): Show |
GGTLC1 | ENSG00000149435.12 | transcript | ENST00000335694.4 | protein_coding | 3/5 | chr20 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22644713 | T | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0085a0001c0001t0003g0061a0001c0001t0003g0062others(53): Show | 61 | 412 | 0.1481 | 0 | c.-35 others(5): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22646756 | T | C | missense_variant others(1): Show |
MODERATE | HG02723.hp2 | a0015 | a0015c0026 | a0015c0026t0004 | a0015c0026t0004g0209 | 1 | 412 | 0.0024 | 0 | c.179 others(3): Show |
p.Phe others(5): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 3/6 | 308/943 | 179/657 | 60/218 | chr22 | TogoVar | ||
GGTLC2_chr22_22639614_22652898 | 22646975 | G | C | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG02683.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054a0002c0002t0002g0297 | 2 | 412 | 0.0049 | 0 | c.305 others(5): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22646979 | A | G | splice_region_variant others(1): Show |
LOW | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0057 | 1 | 412 | 0.0024 | 0 | c.305 others(5): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22647043 | G | A | splice_region_variant others(1): Show |
LOW | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 412 | 0.0024 | 0 | c.360 others(5): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
GGTLC3_chr22_18511344_18523161 | 18516944 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02738.hp2 HG02970.hp2 others(2): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0006a0005c0005others(1): Show | a0003c0003t0002a0004c0006t0003a0005c0005t0001others(1): Show | a0003c0003t0002g0002a0004c0006t0003g0006a0005c0005t0001g0008others(1): Show | 5 | 34 | 0.1471 | 0 | c.531 others(5): Show |
GGTLC3 | ENSG00000274252.1 | transcript | ENST00000619998.1 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
GGTLC3_chr22_18511344_18523161 | 18517489 | G | T | stop_gained others(1): Show |
HIGH | HG02738.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0006 | 1 | 34 | 0.0294 | 0 | c.177 others(3): Show |
p.Tyr others(3): Show |
GGTLC3 | ENSG00000274252.1 | transcript | ENST00000619998.1 | protein_coding | 3/6 | 310/968 | 177/678 | 59/225 | chr22 | TogoVar | ||
GGTLC3_chr22_18511344_18523161 | 18517938 | AGGTGGGG others(6): Show |
A | splice_region_variant others(1): Show |
LOW | HG02738.hp2 NA19056.hp2 NA21309.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0003 | a0001c0001t0001g0009a0001c0001t0004g0010a0004c0006t0003g0006 | 3 | 34 | 0.0882 | -13 | c.-34 others(25): Show |
GGTLC3 | ENSG00000274252.1 | transcript | ENST00000619998.1 | protein_coding | 1/5 | chr22 | TogoVar |