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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(23): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 284 | 0.0035 | 30 | c.912 others(47): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA1_chr5_151817513_151929851 | 151884427 | T | TCAAAACA others(23): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18990.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0272 a0001c0001t0002g0274 others(1): Show |
4 | 284 | 0.0141 | 30 | c.252 others(47): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0215 | 1 | 232 | 0.0043 | 30 | c.931 others(47): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681911 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0184 | 1 | 232 | 0.0043 | 30 | c.931 others(47): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | |||||||
GLRA3_chr4_174631920_174834247 | 174801999 | G | GATAAATA others(23): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0204 a0001c0001t0027g0205 |
2 | 296 | 0.0068 | 30 | c.72- others(47): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128874124 | C | CTCCCTTT others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0268 | 1 | 320 | 0.0031 | 30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874124 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 320 | 0.0031 | 30 | c.69- others(45): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128956171 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0231 |
2 | 320 | 0.0063 | 30 | c.781 others(47): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG03130.hp2 |
a0002a0011 | a0002c0002a0011c0019 | a0002c0002t0002a0011c0019t0002 | a0002c0002t0002g0000 a0011c0019t0002g0000 |
2 | 452 | 0.0044 | 30 | c.-17 others(39): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1927307 | A | AGAGGGTA others(23): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 166 | 0.0060 | 30 | c.771 others(47): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1927367 | A | AGAGGGTA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 166 | 0.0060 | 30 | c.771 others(47): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2013925 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 166 | 0.0060 | 30 | c.346 others(49): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2059707 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 166 | 0.0060 | 30 | c.345 others(49): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMEB1_chr1_28663784_28724353 | 28687387 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 290 | 0.0035 | 30 | c.129 others(47): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2812636 | A | AACATCAC others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0049 | 1 | 322 | 0.0031 | 30 | c.310 others(49): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2847432 | A | AATCATTG others(23): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 322 | 0.0031 | 30 | c.-32 others(41): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 3125 | chr7 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 450 | 0.0022 | 30 | c.146 others(47): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAT3_chr7_80453635_80517064 | 80497671 | C | CATATACG others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 334 | 0.0030 | 30 | c.119 others(47): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 336 | 0.0030 | 30 | c.-95 others(49): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0330 a0001c0001t0034g0346 |
2 | 366 | 0.0055 | 30 | c.*56 others(41): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0007 | a0002c0007t0081 | a0002c0007t0081g0175 | 1 | 366 | 0.0027 | 30 | c.*56 others(41): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(23): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0023 a0001c0001t0038g0040 |
2 | 374 | 0.0054 | 30 | c.*10 others(41): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0076 | a0001c0001t0067g0153 a0001c0001t0076g0136 |
2 | 374 | 0.0054 | 30 | c.*10 others(41): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(23): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0126 a0001c0001t0036g0127 |
2 | 356 | 0.0056 | 30 | c.*10 others(41): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0033 | 1 | 356 | 0.0028 | 30 | c.*10 others(41): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0055 a0001c0001t0002g0127 a0001c0001t0011g0006 |
3 | 274 | 0.0110 | 30 | c.-27 others(49): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02965.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0018others(4): Show | a0001c0001t0003g0055 a0001c0001t0004g0199 a0001c0001t0018g0047 others(4): Show |
7 | 380 | 0.0184 | 30 | c.-29 others(47): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0019a0001c0001t0078others(1): Show | a0001c0001t0012g0174 a0001c0001t0019g0003 a0001c0001t0078g0049 others(1): Show |
4 | 206 | 0.0194 | 30 | c.-77 others(49): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2567350 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0049a0001c0001t0053 | a0001c0001t0018g0037 a0001c0001t0049g0054 a0001c0001t0053g0035 |
3 | 206 | 0.0146 | 30 | c.-77 others(49): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2649390 | A | AATTATTA others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0088 a0001c0001t0001g0179 others(16): Show |
19 | 206 | 0.0922 | 30 | c.-13 others(49): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657337 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0138 | 1 | 206 | 0.0049 | 30 | c.-13 others(51): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657429 | A | AAACAGTA others(23): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 206 | 0.0049 | 30 | c.-13 others(51): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0045 a0001c0001t0027g0044 |
2 | 206 | 0.0097 | 30 | c.-13 others(51): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNPAT_chr1_231236212_231282973 | 231258622 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 360 | 0.0028 | 30 | c.262 others(47): Show |
GNPAT | ENSG00000116906.13 | transcript | ENST00000366647.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101824405 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02922.hp2 |
a0006a0008 | a0006c0017a0008c0019 | a0006c0017t0013a0008c0019t0001 | a0006c0017t0013g0236 a0008c0019t0001g0297 |
2 | 392 | 0.0051 | 30 | c.117 others(47): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833178 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0018 | a0006c0018t0013 | a0006c0018t0013g0235 | 1 | 392 | 0.0026 | 30 | c.-25 others(41): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2220 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp2 NA18941.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0147 a0001c0003t0003g0149 a0001c0003t0003g0175 |
3 | 392 | 0.0077 | 30 | c.-25 others(41): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG03017.hp2 NA18945.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0003 | a0001c0001t0006g0275 a0001c0003t0003g0141 a0001c0003t0003g0154 others(3): Show |
6 | 392 | 0.0153 | 30 | c.-25 others(41): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 272 | 0.0037 | 30 | c.*33 others(47): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA6L4_chr15_84230773_84250358 | 84242689 | G | GTTTATTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0008 | a0008c0005 | a0008c0005t0042 | a0008c0005t0042g0072 | 1 | 251 | 0.0040 | 30 | c.*18 others(39): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 9/9 | 211 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8A_chr15_34374068_34442808 | 34411515 | C | CACTTGTA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02257.hp2 others(5): Show |
a0007 | a0007c0006a0007c0021 | a0007c0006t0018a0007c0006t0020a0007c0006t0076others(4): Show | a0007c0006t0018g0098 a0007c0006t0020g0114 a0007c0006t0020g0115 others(5): Show |
8 | 245 | 0.0327 | 30 | c.-11 others(51): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGB1_chr3_121658201_121754741 | 121747377 | C | CTATATAC others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 | 1 | 370 | 0.0027 | 30 | c.-3+ others(45): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
GOLGB1_chr3_121658201_121754741 | 121747384 | C | CGTATATA others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02258.hp1 others(7): Show |
a0003a0007 | a0003c0004a0003c0008a0007c0009 | a0003c0004t0001a0003c0008t0001a0007c0009t0002 | a0003c0004t0001g0008 a0003c0004t0001g0014 a0003c0008t0001g0007 others(7): Show |
10 | 370 | 0.0270 | 30 | c.-3+ others(45): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86088420 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0052 | 1 | 314 | 0.0032 | 30 | c.-21 others(47): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
GOLPH3L_chr1_150641230_150702154 | 150642390 | C | CAGTAAAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(117): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0129 a0001c0001t0001g0199 others(115): Show |
120 | 348 | 0.3448 | 30 | c.*59 others(41): Show |
GOLPH3L | ENSG00000143457.11 | transcript | ENST00000271732.8 | protein_coding | 3839 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0117 others(4): Show |
7 | 414 | 0.0169 | 30 | c.297 others(47): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02083.hp1 NA18944.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0088 others(2): Show |
7 | 414 | 0.0169 | 30 | c.297 others(47): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01496.hp2 HG02129.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0131 a0001c0001t0001g0150 others(3): Show |
6 | 414 | 0.0145 | 30 | c.297 others(47): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0002t0001g0161 a0001c0002t0001g0190 |
4 | 414 | 0.0097 | 30 | c.297 others(47): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
GOLT1A_chr1_204193163_204218988 | 204208474 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 414 | 0.0024 | 30 | c.25+ others(45): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1/4 | chr1 | TogoVar |