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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNAL_chr18_11747085_11890685 | 11768978 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0100 | 1 | 284 | 0.0035 | 28 | c.393 others(47): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788906 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0092 | 1 | 284 | 0.0035 | 28 | c.393 others(47): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11788914 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0074 | 1 | 284 | 0.0035 | 28 | c.393 others(47): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77770905 | G | GAAAAATA others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0086 | 1 | 282 | 0.0036 | 28 | c.735 others(47): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77863179 | A | AAAGGAAG others(21): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0058 | a0001c0001t0029g0260 a0001c0001t0058g0262 |
2 | 282 | 0.0071 | 28 | c.322 others(47): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77863216 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0079 | a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0079g0030 |
3 | 282 | 0.0106 | 28 | c.322 others(47): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497543 | C | CACATATA others(21): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 334 | 0.0030 | 28 | c.119 others(45): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497543 | C | CACATATA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01106.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0068 others(16): Show |
20 | 334 | 0.0599 | 28 | c.119 others(45): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497629 | C | CATATACG others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 334 | 0.0030 | 28 | c.119 others(45): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1807463 | G | GAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 336 | 0.0030 | 28 | c.204 others(43): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02965.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0188a0001c0001t0193a0001c0003t0099others(1): Show | a0001c0001t0188g0201 a0001c0001t0193g0329 a0001c0003t0099g0095 others(1): Show |
4 | 366 | 0.0109 | 28 | c.*11 others(41): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0124 | a0001c0003t0124g0308 | 1 | 366 | 0.0027 | 28 | c.*56 others(39): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0101 | a0001c0003t0101g0089 | 1 | 366 | 0.0027 | 28 | c.*56 others(39): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52135893 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0127 | a0001c0003t0127g0356 | 1 | 366 | 0.0027 | 28 | c.628 others(43): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02683.hp1 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0020 | a0001c0001t0017g0024 a0001c0001t0017g0126 a0001c0001t0017g0156 others(4): Show |
7 | 374 | 0.0187 | 28 | c.*10 others(39): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0033a0001c0001t0041others(1): Show | a0001c0001t0019g0061 a0001c0001t0019g0062 a0001c0001t0019g0122 others(5): Show |
8 | 374 | 0.0214 | 28 | c.*10 others(39): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02683.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0080 | a0001c0001t0017g0038 a0001c0001t0017g0049 a0001c0001t0017g0078 others(1): Show |
4 | 356 | 0.0112 | 28 | c.*10 others(39): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0031a0001c0001t0040others(1): Show | a0001c0001t0016g0155 a0001c0001t0016g0162 a0001c0001t0016g0165 others(5): Show |
8 | 356 | 0.0225 | 28 | c.*10 others(39): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02132.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0125 a0001c0001t0002g0155 a0001c0001t0003g0160 others(3): Show |
6 | 274 | 0.0219 | 28 | c.-27 others(47): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51942571 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 380 | 0.0026 | 28 | c.-29 others(45): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942571 | C | CTTTTTCT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0291 a0001c0001t0002g0061 a0001c0001t0002g0062 others(20): Show |
23 | 380 | 0.0605 | 28 | c.-29 others(45): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235596207 | A | ACAAAATA others(21): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0091 | 1 | 330 | 0.0030 | 28 | c.-12 others(45): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02615.hp1 NA18952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0090 a0001c0001t0009g0115 a0001c0001t0010g0123 others(1): Show |
4 | 206 | 0.0194 | 28 | c.-77 others(47): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2575738 | C | CAGACACA others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02145.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0019others(18): Show | a0001c0001t0013g0022 a0001c0001t0013g0041 a0001c0001t0013g0161 others(21): Show |
24 | 206 | 0.1165 | 28 | c.-77 others(47): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2638446 | G | GAGGGGAG others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0076 a0001c0001t0001g0155 a0001c0001t0001g0166 others(24): Show |
27 | 206 | 0.1311 | 28 | c.-78 others(45): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0184 | 1 | 206 | 0.0049 | 28 | c.-13 others(49): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0043 | 1 | 206 | 0.0049 | 28 | c.-13 others(49): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNGT2_chr17_49201237_49215574 | 49203779 | T | TGTTATCC others(21): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 440 | 0.0023 | 28 | c.*29 others(39): Show |
GNGT2 | ENSG00000167083.7 | transcript | ENST00000507680.6 | protein_coding | 2457 | chr17 | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703610 | C | CACCTTCC others(21): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 28 | c.*50 others(39): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4759 | chr2 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833176 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0142 | 1 | 392 | 0.0026 | 28 | c.-25 others(39): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2218 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 392 | 0.0026 | 28 | c.-25 others(39): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0003 | a0001c0001t0006g0253 a0001c0003t0003g0155 |
2 | 392 | 0.0051 | 28 | c.-25 others(39): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0160 | 1 | 308 | 0.0033 | 28 | c.*54 others(39): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37258071 | A | ATATATAC others(21): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0265 | 1 | 272 | 0.0037 | 28 | c.162 others(45): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA6L10_chr15_82334993_82354475 | 82342607 | C | CACAAATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG02970.hp2 others(3): Show |
a0012a0042 | a0012c0010a0042c0030 | a0012c0010t0010a0042c0030t0047 | a0012c0010t0010g0017 a0012c0010t0010g0123 a0012c0010t0010g0125 others(1): Show |
6 | 301 | 0.0199 | 28 | c.*16 others(37): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 9/9 | 168 | chr15 | TogoVar | ||||||
GOLGA6L1_chr15_23122066_23141822 | 23137552 | C | CACACGCA others(21): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0048 | a0048c0026 | a0048c0026t0001 | a0048c0026t0001g0050 | 1 | 204 | 0.0049 | 28 | c.-82 others(37): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 731 | chr15 | TogoVar | |||||||
GOLGA6L4_chr15_84230773_84250358 | 84242727 | G | GTGTTTCT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0014 | a0006c0014t0043 | a0006c0014t0043g0011 | 1 | 251 | 0.0040 | 28 | c.*13 others(37): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 9/9 | 167 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8M_chr15_28693583_28717421 | 28699529 | T | TCAATAGG others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp2 | a0008 | a0008c0076 | a0008c0076t0048 | a0008c0076t0048g0148 | 1 | 441 | 0.0023 | 28 | c.*24 others(39): Show |
GOLGA8M | ENSG00000188626.7 | transcript | ENST00000563027.2 | protein_coding | 19/19 | 2424 | chr15 | TogoVar | ||||||
GOLGA8N_chr15_32588456_32612237 | 32598537 | C | CGCGTGCA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01346.hp2 others(7): Show |
a0003a0007a0013others(6): Show | a0003c0003a0007c0007a0013c0011others(6): Show | a0003c0003t0007a0007c0007t0023a0013c0011t0003others(6): Show | a0003c0003t0007g0080 a0007c0007t0023g0151 a0007c0007t0023g0154 others(7): Show |
10 | 286 | 0.0350 | 28 | c.591 others(43): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121747267 | A | ATGTATAT others(21): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 370 | 0.0027 | 28 | c.-3+ others(43): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86088420 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18950.hp2 NA19054.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0007 | a0001c0003t0002a0001c0004t0002a0002c0007t0005 | a0001c0003t0002g0004 a0001c0003t0002g0051 a0001c0004t0002g0102 others(1): Show |
4 | 314 | 0.0127 | 28 | c.-21 others(45): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
GOLPH3L_chr1_150641230_150702154 | 150693797 | A | ATGTATGT others(21): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0209 |
2 | 348 | 0.0058 | 28 | c.183 others(43): Show |
GOLPH3L | ENSG00000143457.11 | transcript | ENST00000271732.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01070.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0070 a0001c0001t0001g0079 others(12): Show |
16 | 414 | 0.0387 | 28 | c.297 others(45): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02132.hp1 HG02165.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0078 others(7): Show |
15 | 414 | 0.0362 | 28 | c.297 others(45): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0144 others(3): Show |
6 | 414 | 0.0145 | 28 | c.297 others(45): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0191 a0001c0002t0001g0209 |
2 | 414 | 0.0048 | 28 | c.297 others(45): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GON7_chr14_93197894_93212065 | 93210068 | A | AATTTATT others(21): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 413 | 0.0048 | 28 | c.-30 others(39): Show |
GON7 | ENSG00000170270.5 | transcript | ENST00000306954.5 | protein_coding | 3004 | chr14 | TogoVar | |||||||
GORASP2_chr2_170924253_170972130 | 170926934 | A | AAAAGAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 382 | 0.0026 | 28 | c.-24 others(39): Show |
GORASP2 | ENSG00000115806.13 | transcript | ENST00000234160.5 | protein_coding | 2318 | chr2 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167087908 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 NA18964.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0021 a0001c0001t0004g0113 a0001c0001t0004g0115 others(2): Show |
7 | 370 | 0.0189 | 28 | c.43+ others(43): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
GPAA1_chr8_144077634_144091216 | 144089679 | T | TACATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 338 | 0.0030 | 28 | c.*35 others(39): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3464 | chr8 | TogoVar |