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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNAO1_chr16_56186489_56362444 | 56355125 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0001t0024others(1): Show | a0001c0001t0004g0002 a0001c0001t0004g0287 a0001c0001t0010g0040 others(3): Show |
7 | 298 | 0.0235 | 18 | c.*28 others(31): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56359468 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 298 | 0.0034 | 18 | c.*33 others(29): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2025 | chr16 | TogoVar | |||||||
GNAO1_chr16_56186489_56362444 | 56359469 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0244 | 1 | 298 | 0.0034 | 18 | c.*33 others(29): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2026 | chr16 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0029 | a0001c0001t0005g0248 a0001c0001t0011g0022 a0001c0001t0029g0207 |
3 | 282 | 0.0106 | 18 | c.322 others(37): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAS_chr20_58834748_58916192 | 58914816 | C | CAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0102 | 1 | 302 | 0.0033 | 18 | c.*50 others(29): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNAS_chr20_58847716_58916192 | 58914816 | C | CAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0022 | a0001c0022t0004 | a0001c0022t0004g0197 | 1 | 302 | 0.0033 | 18 | c.*39 others(29): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNAS_chr20_58886421_58916192 | 58914816 | C | CAATAATA others(11): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0199 | 1 | 432 | 0.0023 | 18 | c.*39 others(29): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3625 | chr20 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847804 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG01257.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0002a0003c0003t0003others(1): Show | a0001c0001t0003g0090 a0002c0002t0002g0089 a0003c0003t0003g0088 others(3): Show |
6 | 326 | 0.0184 | 18 | c.-21 others(35): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 336 | 0.0030 | 18 | c.-95 others(37): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1876492 | C | CGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 others(2): Show |
5 | 336 | 0.0149 | 18 | c.-96 others(37): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB4_chr3_179391088_179456470 | 179440880 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0226 | 1 | 400 | 0.0025 | 18 | c.-43 others(37): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 HG02300.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0165a0001c0001t0167a0001c0001t0180others(2): Show | a0001c0001t0165g0339 a0001c0001t0167g0259 a0001c0001t0180g0341 others(2): Show |
5 | 366 | 0.0137 | 18 | c.*11 others(31): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0203 | a0001c0002t0203g0323 | 1 | 366 | 0.0027 | 18 | c.*56 others(29): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52135852 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0120 | 1 | 366 | 0.0027 | 18 | c.628 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01361.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0021others(11): Show | a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0093 others(31): Show |
34 | 374 | 0.0909 | 18 | c.*10 others(29): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01361.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0019others(12): Show | a0001c0001t0005g0008 a0001c0001t0005g0104 a0001c0001t0005g0189 others(30): Show |
33 | 356 | 0.0927 | 18 | c.*10 others(29): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | ||||||
GNE_chr9_36209441_36281978 | 36277354 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0167 | 1 | 356 | 0.0028 | 18 | c.-42 others(27): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 377 | chr9 | TogoVar | |||||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0089 others(37): Show |
42 | 274 | 0.1533 | 18 | c.-27 others(37): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51908736 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0002 | 1 | 380 | 0.0026 | 18 | c.-30 others(37): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03453.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019a0001c0001t0022 | a0001c0001t0007g0197 a0001c0001t0019g0326 a0001c0001t0022g0364 |
3 | 380 | 0.0079 | 18 | c.-29 others(35): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235579862 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01167.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 others(27): Show |
30 | 330 | 0.0909 | 18 | c.99+ others(33): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235596207 | A | ACAAAATA others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0005 | 1 | 330 | 0.0030 | 18 | c.-12 others(35): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235596209 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 330 | 0.0030 | 18 | c.-12 others(35): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02004.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0086 others(11): Show |
14 | 206 | 0.0680 | 18 | c.-37 others(35): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2553383 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03471.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0062a0001c0001t0078others(1): Show | a0001c0001t0013g0041 a0001c0001t0062g0152 a0001c0001t0078g0049 others(1): Show |
4 | 206 | 0.0194 | 18 | c.-38 others(35): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0076 others(21): Show |
24 | 206 | 0.1165 | 18 | c.-77 others(37): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2636962 | G | GCCCACCT others(11): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 1 | 206 | 0.0049 | 18 | c.-78 others(35): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2649390 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(8): Show | a0001c0001t0001g0155 a0001c0001t0003g0199 a0001c0001t0014g0196 others(8): Show |
11 | 206 | 0.0534 | 18 | c.-13 others(37): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661276 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0203 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661280 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0060 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661280 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0160 | 1 | 206 | 0.0049 | 18 | c.-13 others(39): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2696197 | G | GAGAGAGG others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0079a0001c0001t0088 | a0001c0001t0019g0132 a0001c0001t0079g0125 a0001c0001t0088g0131 |
3 | 206 | 0.0146 | 18 | c.-13 others(37): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCGCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18943.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0002 a0001c0001t0002g0133 a0001c0001t0040g0116 |
3 | 277 | 0.0108 | 18 | c.-31 others(27): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | |||||||
GNL3_chr3_52681032_52699497 | 52692369 | A | ACTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01074.hp1 others(46): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0002a0003c0003t0003a0004c0005t0002others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0019 others(8): Show |
49 | 394 | 0.1244 | 18 | c.870 others(33): Show |
GNL3 | ENSG00000163938.17 | transcript | ENST00000418458.6 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
GNLY_chr2_85689358_85703852 | 85703636 | C | CCTTCCTT others(11): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 18 | c.*50 others(29): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 4785 | chr2 | TogoVar | |||||||
GNPDA2_chr4_44696795_44731556 | 44727899 | A | AATGGACT others(11): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 412 | 0.0024 | 18 | c.-14 others(29): Show |
GNPDA2 | ENSG00000163281.12 | transcript | ENST00000295448.8 | protein_coding | 1344 | chr4 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824405 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 NA18612.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 others(2): Show |
5 | 392 | 0.0128 | 18 | c.117 others(35): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1354585 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 378 | 0.0027 | 18 | c.178 others(35): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02523.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004a0001c0003t0040 | a0001c0001t0004g0126 a0001c0003t0004g0145 a0001c0003t0004g0155 others(3): Show |
6 | 308 | 0.0195 | 18 | c.*54 others(29): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132788921 | A | ACCCCGCC others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(121): Show |
a0001a0002a0005others(10): Show | a0001c0003a0001c0009a0001c0023others(14): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(50): Show | a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0167 others(121): Show |
124 | 308 | 0.4026 | 18 | c.281 others(34): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132788925 | C | CGCCCCAG others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0017 | a0017c0029 | a0017c0029t0061 | a0017c0029t0061g0103 | 1 | 308 | 0.0033 | 18 | c.281 others(35): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0012others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0172 a0002c0002t0002g0207 others(15): Show |
18 | 272 | 0.0662 | 18 | c.*33 others(35): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75273706 | A | AAGTATTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0131 | 1 | 200 | 0.0050 | 18 | c.*35 others(29): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 252 | chr15 | TogoVar | |||||||
GOLGA6L10_chr15_82334993_82354475 | 82339792 | T | TTTTCCAC others(11): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0036 | a0036c0041 | a0036c0041t0030 | a0036c0041t0030g0112 | 1 | 301 | 0.0033 | 18 | c.*29 others(29): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 200 | chr15 | TogoVar | |||||||
GOLGA6L10_chr15_82334993_82354475 | 82344656 | T | TCCTCTCC others(11): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG00735.hp1 HG01361.hp2 others(2): Show |
a0011 | a0011c0013a0011c0022 | a0011c0013t0009a0011c0022t0009 | a0011c0013t0009g0015 a0011c0022t0009g0030 |
5 | 301 | 0.0166 | 18 | c.118 others(27): Show |
p.Arg others(31): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1303/4452 | 1203/1569 | 401/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344688 | C | CGCAGCCT others(11): Show |
conservative_inframe_insertion | MODERATE | NA18522.hp2 | a0041 | a0041c0028 | a0041c0028t0047 | a0041c0028t0047g0045 | 1 | 301 | 0.0033 | 18 | c.117 others(27): Show |
p.Leu others(31): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1271/4452 | 1171/1569 | 391/522 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG03831.hp1 NA20905.hp1 |
a0022a0049a0060 | a0022c0029a0049c0031a0060c0030 | a0022c0029t0001a0049c0031t0003a0060c0030t0002 | a0022c0029t0001g0052 a0049c0031t0003g0053 a0060c0030t0002g0033 |
3 | 204 | 0.0147 | 18 | c.129 others(25): Show |
p.Pro others(29): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 146/2007 | 49/668 | chr15 | TogoVar |