| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0005others(4): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0003t0003g0112a0002c0002t0001g0113a0002c0002t0001g0122others(22): Show | 26 | 155 | 0.1677 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316012 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18906.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0004 | a0002c0002t0001g0114a0002c0005t0004g0076 | 2 | 155 | 0.0129 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316180 | A | AGACATGC others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0003a0001c0024 | a0001c0003t0001a0001c0024t0003 | a0001c0003t0001g0105a0001c0024t0003g0106 | 2 | 155 | 0.0129 | 8 | c.487 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316254 | G | GACAGACA others(1): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0029 | a0029c0015 | a0029c0015t0001 | a0029c0015t0001g0008 | 1 | 155 | 0.0065 | 8 | c.487 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316270 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01346.hp2 |
a0004 | a0004c0006a0004c0007 | a0004c0006t0003a0004c0007t0002 | a0004c0006t0003g0013a0004c0006t0003g0015a0004c0007t0002g0014 | 3 | 155 | 0.0194 | 8 | c.487 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316340 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03491.hp2 NA18952.hp1 others(2): Show |
a0001a0025 | a0001c0001a0001c0003a0025c0020 | a0001c0001t0002a0001c0003t0001a0025c0020t0002 | a0001c0001t0002g0033a0001c0001t0002g0034a0001c0001t0002g0067others(2): Show | 5 | 155 | 0.0323 | 8 | c.487 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 321623 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 155 | 0.0065 | 8 | c.-28 others(19): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2828 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 321763 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 NA19077.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0002 | a0001c0003t0001g0046a0003c0004t0002g0087 | 2 | 155 | 0.0129 | 8 | c.-29 others(19): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2968 | chrX | TogoVar | ||||||
| GTSE1_chr22_46291870_46335810 | 46297956 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03516.hp2 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0144a0003c0003t0001g0145a0003c0003t0001g0146 | 3 | 200 | 0.0150 | 8 | c.79+ others(21): Show |
GTSE1 | ENSG00000075218.19 | transcript | ENST00000454366.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GUCA1B_chr6_42178284_42199956 | 42195329 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(36): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(11): Show | 39 | 418 | 0.0933 | 8 | c.-51 others(17): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 374 | chr6 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02647.hp1 others(4): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0010 | a0002c0002t0001a0003c0003t0001a0009c0010t0001 | a0002c0002t0001g0317a0003c0003t0001g0172a0003c0003t0001g0173others(4): Show | 7 | 374 | 0.0187 | 8 | c.204 others(27): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA2A_chr1_42157690_42169745 | 42166115 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005 | 8 | 436 | 0.0184 | 8 | c.-14 others(19): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 1371 | chr1 | TogoVar | ||||||
| GUCY1A1_chr4_155661848_155742059 | 155698239 | G | GGATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(46): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(44): Show | 49 | 330 | 0.1485 | 8 | c.255 others(25): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GUCY1A1_chr4_155661848_155742059 | 155699068 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02717.hp2 HG03195.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0026a0003c0003t0049 | a0003c0003t0004g0112a0003c0003t0026g0062a0003c0003t0026g0164others(1): Show | 4 | 330 | 0.0121 | 8 | c.255 others(25): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GUCY1A1_chr4_155661848_155742059 | 155720337 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0057a0001c0001t0001g0085others(14): Show | 19 | 330 | 0.0576 | 8 | c.171 others(27): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0069a0001c0002t0003others(3): Show | a0001c0001t0003g0079a0001c0001t0003g0083a0001c0001t0069g0096others(5): Show | 8 | 256 | 0.0313 | 8 | c.199 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106709627 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0010a0001c0001t0013a0002c0011t0013 | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0010g0121others(4): Show | 7 | 256 | 0.0273 | 8 | c.183 others(25): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106730059 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0102a0001c0001t0003g0058a0001c0001t0003g0079others(8): Show | 11 | 256 | 0.0430 | 8 | c.183 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106740648 | C | CTGTATGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00673.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0059a0001c0001t0001g0158a0001c0001t0002g0109others(39): Show | 42 | 256 | 0.1641 | 8 | c.183 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106776411 | A | ACTCAAAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0059a0001c0001t0001g0068a0001c0001t0001g0122others(45): Show | 48 | 256 | 0.1875 | 8 | c.183 others(23): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106784824 | C | CGTACTTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01169.hp1 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0007others(2): Show | a0001c0004t0002a0001c0006t0005a0001c0006t0006others(5): Show | a0001c0004t0002g0211a0001c0006t0005g0203a0001c0006t0005g0210others(9): Show | 12 | 256 | 0.0469 | 8 | c.169 others(27): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 5/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106855898 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0021others(31): Show | 34 | 256 | 0.1328 | 8 | c.120 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106909355 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG02083.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(12): Show | 15 | 256 | 0.0586 | 8 | c.120 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0002g0013a0001c0001t0002g0089a0001c0001t0007g0056others(6): Show | 9 | 256 | 0.0352 | 8 | c.488 others(25): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 107002388 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02083.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(8): Show | 11 | 256 | 0.0430 | 8 | c.303 others(27): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| GUCY2C_chr12_14607632_14701599 | 14652163 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(153): Show | 167 | 236 | 0.7076 | 8 | c.153 others(25): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 13/26 | chr12 | TogoVar | ||||||
| GUCY2F_chrX_109367906_109487086 | 109476723 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 217 | 0.0046 | 8 | c.-85 others(23): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
| GUCY2F_chrX_109367906_109487086 | 109481042 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01928.hp1 others(11): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(11): Show | 14 | 217 | 0.0645 | 8 | c.-86 others(23): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
| GUCY2F_chrX_109367906_109487086 | 109481104 | A | AAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 217 | 0.0046 | 8 | c.-86 others(23): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
| GULP1_chr2_188286874_188600926 | 188352618 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0125others(3): Show | 6 | 162 | 0.0370 | 8 | c.-17 others(29): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GULP1_chr2_188286874_188600926 | 188368939 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01891.hp1 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0005a0001c0001t0003g0007a0001c0001t0003g0010others(6): Show | 9 | 162 | 0.0556 | 8 | c.-17 others(29): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GULP1_chr2_188286874_188600926 | 188499133 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 NA18944.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0145a0001c0001t0003g0005a0001c0001t0006g0046others(1): Show | 4 | 162 | 0.0247 | 8 | c.90+ others(25): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GULP1_chr2_188286874_188600926 | 188514040 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0120a0001c0001t0001g0123others(10): Show | 13 | 162 | 0.0803 | 8 | c.91- others(23): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GVQW3_chr11_76376323_76413132 | 76400006 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01255.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0034others(17): Show | 26 | 382 | 0.0681 | 8 | c.466 others(25): Show |
GVQW3 | ENSG00000179240.13 | transcript | ENST00000529331.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GXYLT1_chr12_42076845_42149874 | 42098760 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0006g0245a0001c0001t0007g0349a0001c0001t0009g0257others(8): Show | 11 | 398 | 0.0276 | 8 | c.865 others(23): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | ||||||
| GXYLT1_chr12_42076845_42149874 | 42136751 | T | TATACATA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01081.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0285a0001c0001t0002g0335a0001c0001t0005g0267others(41): Show | 46 | 398 | 0.1156 | 8 | c.222 others(25): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| GXYLT2_chr3_72883046_72981915 | 72908583 | C | CAGTGTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(60): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0027others(60): Show | 63 | 296 | 0.2128 | 8 | c.468 others(21): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GXYLT2_chr3_72883046_72981915 | 72954399 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01081.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0082others(34): Show | 37 | 296 | 0.1250 | 8 | c.601 others(23): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GXYLT2_chr3_72883046_72981915 | 72954637 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp1 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0065others(32): Show | 35 | 296 | 0.1182 | 8 | c.601 others(23): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GYG1_chr3_148986540_149036775 | 148997054 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039a0001c0001t0005g0279a0001c0001t0005g0280others(3): Show | 7 | 414 | 0.0169 | 8 | c.481 others(23): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GYG1_chr3_148986540_149036775 | 149012997 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0002g0225a0001c0001t0003g0316a0001c0001t0003g0328others(61): Show | 77 | 414 | 0.1860 | 8 | c.608 others(25): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GYG1_chr3_148986540_149036775 | 149022498 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(42): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(4): Show | a0001c0002t0001g0006a0001c0002t0001g0025a0001c0002t0001g0027others(35): Show | 45 | 414 | 0.1087 | 8 | c.609 others(25): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2846036 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 316 | 0.0032 | 8 | c.149 others(25): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2846036 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02071.hp1 HG02129.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0214others(12): Show | 15 | 316 | 0.0475 | 8 | c.149 others(25): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2846055 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0246a0002c0002t0003g0207 | 2 | 316 | 0.0063 | 8 | c.149 others(25): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2847703 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0005 | a0001c0003t0005a0002c0002t0002a0002c0002t0005others(3): Show | a0001c0003t0005g0177a0002c0002t0002g0038a0002c0002t0002g0039others(4): Show | 7 | 316 | 0.0222 | 8 | c.149 others(25): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2847747 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02040.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0198a0002c0002t0002g0252 | 2 | 316 | 0.0063 | 8 | c.149 others(25): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2856752 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0133a0002c0002t0002g0011a0002c0002t0003g0132others(2): Show | 5 | 316 | 0.0158 | 8 | c.614 others(23): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2871689 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03704.hp1 NA18967.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0003 | a0001c0003t0004g0041a0002c0002t0003g0207a0002c0002t0003g0299 | 3 | 316 | 0.0095 | 8 | c.103 others(27): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2874097 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00733.hp1 others(60): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0226a0001c0001t0001g0247a0001c0001t0002g0192others(60): Show | 63 | 316 | 0.1994 | 8 | c.103 others(27): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |