view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA11_chr19_3089362_3128999 | 3116448 | C | CGCATCCT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0062 | a0001c0002t0002g0107 a0001c0002t0004g0126 a0001c0002t0062g0123 |
3 | 379 | 0.0079 | 9 | c.605 others(26): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2789132 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00735.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 others(56): Show |
59 | 213 | 0.2770 | 9 | c.525 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2816240 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01069.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 others(36): Show |
39 | 230 | 0.1696 | 9 | c.310 others(28): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77426279 | G | GGGTGAGC others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01943.hp1 HG02004.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(10): Show | a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0037 others(26): Show |
29 | 238 | 0.1218 | 9 | c.724 others(24): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77431024 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02155.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0015 | a0001c0001t0003g0046 a0001c0001t0003g0106 a0001c0001t0003g0111 others(3): Show |
6 | 125 | 0.0480 | 9 | c.593 others(24): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77452609 | A | ATGTGTGG others(2): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02717.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0003a0001c0006t0001 | a0001c0005t0003g0151 a0001c0006t0001g0144 |
2 | 84 | 0.0238 | 9 | c.310 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0014a0001c0002t0002a0001c0005t0004 | a0001c0001t0014g0225 a0001c0002t0002g0223 a0001c0005t0004g0084 |
3 | 66 | 0.0455 | 9 | c.309 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77593334 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG02109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0021 a0001c0001t0001g0126 a0001c0001t0002g0220 others(17): Show |
20 | 210 | 0.0952 | 9 | c.124 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77623216 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03831.hp1 NA18906.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0076 a0001c0001t0005g0191 a0001c0002t0001g0078 others(3): Show |
6 | 41 | 0.1463 | 9 | c.124 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03209.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0159 others(3): Show |
6 | 128 | 0.0469 | 9 | c.146 others(26): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3156207 | A | ACACACGC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0162 others(22): Show |
26 | 413 | 0.0630 | 9 | c.744 others(24): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3165176 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0404 a0001c0001t0002g0406 others(5): Show |
9 | 276 | 0.0326 | 9 | c.*21 others(20): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1428 | chr19 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80200324 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01169.hp1 HG02135.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(6): Show | a0001c0001t0001g0289 a0001c0001t0004g0032 a0001c0001t0004g0288 others(13): Show |
16 | 20 | 0.8000 | 9 | c.461 others(24): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80219027 | T | TGTGTGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG03710.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0073 a0001c0001t0002g0124 a0001c0001t0018g0139 |
3 | 52 | 0.0577 | 9 | c.*15 others(20): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 8/8 | 1535 | chr7 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11788897 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0152a0001c0001t0163 | a0001c0001t0028g0071 a0001c0001t0028g0196 a0001c0001t0152g0068 others(1): Show |
4 | 230 | 0.0174 | 9 | c.624 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11796575 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02040.hp2 HG02080.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0059a0001c0001t0085others(7): Show | a0001c0001t0002g0194 a0001c0001t0059g0232 a0001c0001t0085g0111 others(7): Show |
10 | 122 | 0.0820 | 9 | c.625 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11813254 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0082 a0001c0001t0002g0153 a0001c0001t0002g0187 others(76): Show |
79 | 81 | 0.9753 | 9 | c.625 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11839552 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02165.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(9): Show | a0001c0001t0002g0091 a0001c0001t0007g0095 a0001c0001t0009g0073 others(9): Show |
12 | 20 | 0.6000 | 9 | c.722 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788897 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0053a0001c0001t0119 | a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0053g0087 others(1): Show |
4 | 264 | 0.0152 | 9 | c.393 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11747085_11890685 | 11796575 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0081 a0001c0001t0005g0060 a0001c0001t0006g0239 others(11): Show |
14 | 143 | 0.0979 | 9 | c.394 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11813254 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp1 others(92): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(92): Show |
95 | 97 | 0.9794 | 9 | c.394 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11839552 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(12): Show | a0001c0001t0001g0117 a0001c0001t0001g0151 a0001c0001t0002g0217 others(13): Show |
16 | 24 | 0.6667 | 9 | c.491 others(28): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56187730 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp1 NA18946.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0005g0271 a0001c0001t0016g0055 a0001c0002t0001g0120 others(1): Show |
4 | 90 | 0.0444 | 9 | c.-45 others(20): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3758 | chr16 | TogoVar | |||||||
GNAO1_chr16_56186489_56362444 | 56359469 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG01515.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0014 a0001c0001t0001g0163 a0001c0001t0001g0168 others(75): Show |
79 | 152 | 0.5197 | 9 | c.*33 others(20): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2026 | chr16 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01175.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0175 a0001c0001t0003g0090 a0001c0001t0003g0259 others(14): Show |
17 | 31 | 0.5484 | 9 | c.322 others(28): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAS_chr20_58834748_58916192 | 58854444 | G | GGCAGCCC others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0260 a0001c0001t0003g0258 a0001c0001t0013g0259 others(1): Show |
4 | 300 | 0.0133 | 9 | c.*42 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58834748_58916192 | 58902725 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01884.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0006 | a0001c0001t0001g0023 a0001c0001t0001g0116 a0001c0001t0001g0119 others(3): Show |
6 | 86 | 0.0698 | 9 | c.*16 others(26): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58834748_58916192 | 58914816 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02976.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0119 others(8): Show |
11 | 193 | 0.0570 | 9 | c.*50 others(20): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNAS_chr20_58847716_58916192 | 58854444 | G | GGCAGCCC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG02486.hp1 HG02647.hp1 others(1): Show |
a0004 | a0004c0015a0004c0027a0004c0028 | a0004c0015t0001a0004c0027t0001a0004c0028t0001 | a0004c0015t0001g0185 a0004c0015t0001g0186 a0004c0027t0001g0184 others(1): Show |
4 | 300 | 0.0133 | 9 | c.118 others(18): Show |
p.Pro others(22): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 1/13 | 1747/4027 | 1197/3114 | 399/1037 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GNAS_chr20_58847716_58916192 | 58902725 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01884.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0027 | a0001c0001t0001a0002c0003t0002a0004c0027t0001 | a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0223 others(3): Show |
6 | 89 | 0.0674 | 9 | c.218 others(26): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58847716_58916192 | 58914816 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02976.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0004others(3): Show | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0224 others(8): Show |
11 | 192 | 0.0573 | 9 | c.*39 others(20): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNAS_chr20_58886421_58916192 | 58902725 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 others(4): Show |
7 | 118 | 0.0593 | 9 | c.258 others(24): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58886421_58916192 | 58914816 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02976.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0001t0001g0203 others(8): Show |
12 | 283 | 0.0424 | 9 | c.*39 others(20): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847804 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0007a0001c0005t0008a0001c0008t0011others(1): Show | a0001c0001t0007g0271 a0001c0001t0007g0273 a0001c0001t0007g0274 others(3): Show |
6 | 130 | 0.0462 | 9 | c.-21 others(26): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02165.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0183 others(3): Show |
6 | 80 | 0.0750 | 9 | c.-95 others(28): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52132636 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02004.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0127a0001c0002t0128a0001c0002t0129others(10): Show | a0001c0002t0127g0268 a0001c0002t0128g0270 a0001c0002t0129g0269 others(10): Show |
13 | 233 | 0.0558 | 9 | c.863 others(24): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52136172 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0040a0001c0001t0041others(7): Show | a0001c0001t0008g0154 a0001c0001t0040g0134 a0001c0001t0041g0116 others(7): Show |
10 | 242 | 0.0413 | 9 | c.628 others(24): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216640 | G | GATTATTA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0018a0001c0001t0028others(8): Show | a0001c0001t0015g0023 a0001c0001t0015g0131 a0001c0001t0015g0223 others(15): Show |
18 | 237 | 0.0759 | 9 | c.*71 others(18): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 724 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216640 | G | GATTATTA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0016a0001c0001t0026others(8): Show | a0001c0001t0015g0039 a0001c0001t0015g0055 a0001c0001t0015g0077 others(14): Show |
17 | 221 | 0.0769 | 9 | c.*71 others(18): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 724 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36280322 | A | ATTATAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02257.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0035a0001c0001t0037others(4): Show | a0001c0001t0011g0351 a0001c0001t0035g0350 a0001c0001t0037g0347 others(5): Show |
8 | 354 | 0.0226 | 9 | c.-33 others(20): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 3345 | chr9 | TogoVar | |||||||
GNG10_chr9_111656605_111675226 | 111660960 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0066 a0001c0001t0002g0005 a0001c0001t0002g0035 others(4): Show |
11 | 105 | 0.1048 | 9 | c.-67 others(18): Show |
GNG10 | ENSG00000242616.4 | transcript | ENST00000374293.5 | protein_coding | 644 | chr9 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51908736 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp1 others(100): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0076 others(100): Show |
103 | 185 | 0.5568 | 9 | c.-30 others(28): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51962208 | T | TTCTTTAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0029 others(331): Show |
334 | 378 | 0.8836 | 9 | c.88- others(24): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235622873 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0126 others(95): Show |
99 | 168 | 0.5893 | 9 | c.-12 others(30): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02258.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019a0001c0001t0023others(4): Show | a0001c0001t0009g0087 a0001c0001t0009g0115 a0001c0001t0009g0142 others(8): Show |
11 | 44 | 0.2500 | 9 | c.-37 others(26): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2589371 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01517.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0080 a0001c0001t0003g0117 a0001c0001t0007g0154 others(2): Show |
5 | 46 | 0.1087 | 9 | c.-77 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2602901 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 others(20): Show |
23 | 113 | 0.2035 | 9 | c.-78 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2602905 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01943.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0024others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0174 others(6): Show |
9 | 204 | 0.0441 | 9 | c.-78 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2647221 | A | AGGCAGCA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0055 | a0001c0001t0012g0128 a0001c0001t0013g0166 a0001c0001t0055g0024 |
3 | 204 | 0.0147 | 9 | c.-13 others(26): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2656029 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0024a0001c0001t0045others(4): Show | a0001c0001t0018g0138 a0001c0001t0024g0056 a0001c0001t0045g0004 others(4): Show |
7 | 87 | 0.0805 | 9 | c.-13 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar |