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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF2H4_chr6_30903207_30919106 | 30904119 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 411 | 0.0024 | -11 | c.-42 others(22): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 4087 | chr6 | TogoVar | ||||||
GTF2H4_chr6_30903207_30919106 | 30905350 | CTTTTCTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 411 | 0.0024 | -11 | c.-30 others(22): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 2856 | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158199908 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0039a0001c0001t0104 | a0001c0001t0011g0058a0001c0001t0011g0059a0001c0001t0011g0061others(5): Show | 8 | 384 | 0.0208 | -11 | c.*77 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 565 | chr6 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74450360 | TTTTTTGT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0126a0002c0002t0003g0127 | 2 | 262 | 0.0076 | -11 | c.-38 others(22): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 3545 | chr7 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74558347 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0132 | 1 | 262 | 0.0038 | -11 | c.210 others(28): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 170 | 0.0059 | -11 | c.239 others(28): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74662204 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 174 | 0.0058 | -11 | c.-6+ others(26): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF3C3_chr2_196758035_196804683 | 196758495 | TAAAAAAA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01952.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0006 | a0001c0001t0001g0153a0003c0006t0006g0169 | 2 | 252 | 0.0079 | -11 | c.*60 others(22): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 4539 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781354 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 252 | 0.0040 | -11 | c.111 others(28): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110972322 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01123.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(6): Show | 21 | 346 | 0.0607 | -11 | c.*45 others(22): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 4451 | chr6 | TogoVar | ||||||
GTPBP10_chr7_90341716_90396453 | 90365368 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01070.hp2 others(12): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0030a0003c0003t0037a0004c0004t0006others(1): Show | a0003c0003t0030g0060a0003c0003t0037g0066a0004c0004t0006g0014others(6): Show | 15 | 390 | 0.0385 | -11 | c.465 others(28): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTPBP1_chr22_38700944_38738587 | 38704283 | TTTGTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0136a0001c0001t0002g0002a0001c0001t0002g0004others(46): Show | 80 | 382 | 0.2094 | -11 | c.-16 others(22): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 1660 | chr22 | TogoVar | ||||||
GTPBP1_chr22_38700944_38738587 | 38707000 | CTTTCCTG others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 3 | 382 | 0.0079 | -11 | c.192 others(26): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GTPBP1_chr22_38700944_38738587 | 38731011 | TGTGTGTG others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01884.hp1 others(51): Show |
a0001a0004 | a0001c0002a0001c0008a0004c0007 | a0001c0002t0004a0001c0002t0007a0001c0002t0014others(3): Show | a0001c0002t0004g0003a0001c0002t0004g0005a0001c0002t0004g0018others(22): Show | 54 | 382 | 0.1414 | -11 | c.*30 others(20): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 12/12 | 308 | chr22 | TogoVar | |||||
GTPBP4_chr10_983434_1024932 | 993946 | ACAGGGTT others(4): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0298 | 1 | 370 | 0.0027 | -11 | c.219 others(28): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GUCA1C_chr3_108902792_108958879 | 108955589 | CTAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306a0002c0002t0001g0307 | 2 | 374 | 0.0054 | -11 | c.-18 others(22): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1711 | chr3 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0089a0002c0002t0001g0095a0002c0004t0001g0362others(6): Show | 9 | 374 | 0.0241 | -11 | c.-18 others(22): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | ||||||
GUCD1_chr22_24535438_24560138 | 24556672 | GCTGCTAT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -11 | c.-16 others(22): Show |
GUCD1 | ENSG00000138867.17 | transcript | ENST00000435822.6 | protein_coding | 1535 | chr22 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106767891 | TAAAAATA others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01109.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0055others(10): Show | a0001c0001t0002g0102a0001c0001t0010g0100a0001c0001t0055g0094others(15): Show | 18 | 256 | 0.0703 | -11 | c.183 others(30): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106907397 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0057 | 1 | 256 | 0.0039 | -11 | c.120 others(32): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106950329 | GCCAGCAG others(4): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0229 | 1 | 256 | 0.0039 | -11 | c.488 others(30): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106957855 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 | 1 | 256 | 0.0039 | -11 | c.488 others(30): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 107015561 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004a0001c0003t0009others(2): Show | a0001c0003t0003g0232a0001c0003t0003g0233a0001c0003t0003g0245others(5): Show | 8 | 256 | 0.0313 | -11 | c.303 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14621287 | TCACATGT others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0214a0001c0007t0001g0219 | 2 | 236 | 0.0085 | -11 | c.260 others(26): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 22/26 | chr12 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14684582 | TTCCTTCC others(4): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050a0001c0002t0001g0148 | 2 | 236 | 0.0085 | -11 | c.396 others(28): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14684590 | TTCCTTCC others(4): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01934.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0033a0001c0001t0001g0042others(7): Show | 11 | 236 | 0.0466 | -11 | c.396 others(28): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14697056 | ATATATAA others(4): Show |
A | upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 236 | 0.0042 | -11 | c.-61 others(20): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 458 | chr12 | TogoVar | ||||||
GUCY2F_chrX_109367906_109487086 | 109452325 | ACAATAAC others(4): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 217 | 0.0046 | -11 | c.138 others(28): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 4/19 | chrX | TogoVar | ||||||
GUCY2F_chrX_109367906_109487086 | 109476724 | AGATAGAT others(4): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0166 | 1 | 217 | 0.0046 | -11 | c.-85 others(26): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
GUK1_chr1_228135279_228153951 | 228138234 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01952.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 6 | 422 | 0.0142 | -11 | c.-20 others(22): Show |
GUK1 | ENSG00000143774.18 | transcript | ENST00000453943.6 | protein_coding | 2044 | chr1 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188288987 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG03540.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023 | a0001c0001t0008g0035a0001c0001t0008g0036a0001c0001t0023g0085 | 3 | 162 | 0.0185 | -11 | c.-33 others(22): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 2886 | chr2 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188502977 | TGGGCAAT others(4): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01169.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0013others(9): Show | a0001c0001t0003g0005a0001c0001t0003g0007a0001c0001t0003g0008others(23): Show | 26 | 162 | 0.1605 | -11 | c.90+ others(28): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GULP1_chr2_188286874_188600926 | 188566794 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022 | a0001c0001t0015g0066a0001c0001t0022g0082 | 2 | 162 | 0.0124 | -11 | c.400 others(28): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GXYLT1_chr12_42076845_42149874 | 42148256 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0258a0001c0002t0003g0189 | 2 | 398 | 0.0050 | -11 | c.-36 others(22): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 3383 | chr12 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72897126 | AGGTAGGA others(4): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 296 | 0.0034 | -11 | c.275 others(28): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72901700 | ACAGGCAT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0018others(50): Show | 53 | 296 | 0.1791 | -11 | c.276 others(28): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72946276 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(100): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0028others(100): Show | 103 | 296 | 0.3480 | -11 | c.601 others(28): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GXYLT2_chr3_72883046_72981915 | 72959106 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 296 | 0.0034 | -11 | c.976 others(28): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG1_chr3_148986540_149036775 | 149028705 | ATTTTTTT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0044 | 1 | 414 | 0.0024 | -11 | c.*17 others(22): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 8/8 | 1785 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
GYG2_chrX_2823930_2887818 | 2846055 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 316 | 0.0032 | -11 | c.149 others(28): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYPB_chr4_143991104_144024380 | 143993251 | GACTTGCC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(328): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(235): Show | 331 | 434 | 0.7627 | -11 | c.*30 others(22): Show |
GYPB | ENSG00000250361.10 | transcript | ENST00000502664.6 | protein_coding | 2852 | chr4 | TogoVar | ||||||
GYPB_chr4_143991104_144024380 | 144016140 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 434 | 0.0023 | -11 | c.37+ others(26): Show |
GYPB | ENSG00000250361.10 | transcript | ENST00000502664.6 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0007a0001c0015t0007 | a0001c0001t0007g0035a0001c0015t0007g0034 | 2 | 390 | 0.0051 | -11 | c.117 others(30): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48997089 | GTCAATTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 390 | 0.0026 | -11 | c.-39 others(22): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 3781 | chr19 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21541281 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 312 | 0.0032 | -11 | c.164 others(28): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 13/15 | chr12 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21559326 | GTACATAT others(4): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG03927.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0139a0005c0007t0001g0256a0005c0007t0001g0257 | 3 | 312 | 0.0096 | -11 | c.123 others(28): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21604207 | GATTTTAA others(4): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 312 | 0.0032 | -11 | c.121 others(26): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
GZMA_chr5_55097646_55115252 | 55106339 | TAAAATAA others(4): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 390 | 0.0026 | -11 | c.215 others(26): Show |
GZMA | ENSG00000145649.8 | transcript | ENST00000274306.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GZMB_chr14_24625954_24639190 | 24627492 | TAGCTGTT others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03130.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 450 | 0.0089 | -11 | c.*35 others(22): Show |
GZMB | ENSG00000100453.14 | transcript | ENST00000216341.9 | protein_coding | 3461 | chr14 | TogoVar | ||||||
GZMB_chr14_24625954_24639190 | 24629550 | ATGACGCT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | -11 | c.*15 others(22): Show |
GZMB | ENSG00000100453.14 | transcript | ENST00000216341.9 | protein_coding | 1403 | chr14 | TogoVar |