| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0001c0001t0002g0121a0001c0001t0007g0125a0001c0001t0009g0103others(9): Show | 12 | 248 | 0.0484 | 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 | a0001c0001t0003g0106a0001c0001t0003g0107a0001c0001t0053g0109others(1): Show | 4 | 284 | 0.0141 | 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 | a0001c0001t0001g0080a0001c0001t0005g0055a0001c0001t0006g0234others(11): Show | 14 | 284 | 0.0493 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0018others(92): Show | 95 | 284 | 0.3345 | 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 | a0001c0001t0001g0148a0001c0001t0001g0212a0001c0001t0002g0203others(13): Show | 16 | 284 | 0.0563 | 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 | a0001c0001t0005g0272a0001c0001t0016g0059a0001c0002t0001g0120others(1): Show | 4 | 298 | 0.0134 | 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(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0014a0001c0001t0001g0163a0001c0001t0001g0168others(76): Show | 80 | 298 | 0.2685 | 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 | a0001c0001t0002g0240a0001c0001t0003g0069a0001c0001t0003g0187others(14): Show | 17 | 282 | 0.0603 | 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 | a0001c0001t0002g0264a0001c0001t0003g0259a0001c0001t0013g0263others(1): Show | 4 | 302 | 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 | a0001c0001t0001g0022a0001c0001t0001g0115a0001c0001t0001g0118others(3): Show | 6 | 302 | 0.0199 | 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 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0118others(8): Show | 11 | 302 | 0.0364 | 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 | a0004c0015t0001g0186a0004c0015t0001g0187a0004c0027t0001g0185others(1): Show | 4 | 302 | 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 | a0001c0001t0001g0214a0001c0001t0001g0217a0001c0001t0001g0224others(3): Show | 6 | 302 | 0.0199 | 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 | a0001c0001t0001g0217a0001c0001t0001g0219a0001c0001t0001g0225others(8): Show | 11 | 302 | 0.0364 | 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 | a0001c0001t0001g0134a0001c0001t0001g0144a0001c0001t0001g0201others(4): Show | 7 | 432 | 0.0162 | 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 | a0001c0001t0001g0077a0001c0001t0001g0166a0001c0001t0001g0201others(8): Show | 12 | 432 | 0.0278 | 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 | a0001c0001t0008a0001c0005t0009a0001c0008t0012others(1): Show | a0001c0001t0008g0275a0001c0001t0008g0277a0001c0001t0008g0278others(3): Show | 6 | 326 | 0.0184 | 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 | a0001c0001t0001g0193a0001c0001t0001g0222a0001c0001t0001g0259others(3): Show | 6 | 336 | 0.0179 | 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 | a0001c0002t0128a0001c0002t0129a0001c0002t0130others(10): Show | a0001c0002t0128g0273a0001c0002t0129g0275a0001c0002t0130g0274others(10): Show | 13 | 366 | 0.0355 | 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 | a0001c0001t0008g0142a0001c0001t0040g0113a0001c0001t0041g0128others(7): Show | 10 | 366 | 0.0273 | 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 | a0001c0001t0015a0001c0001t0020a0001c0001t0031others(8): Show | a0001c0001t0015g0033a0001c0001t0015g0131a0001c0001t0015g0224others(15): Show | 18 | 374 | 0.0481 | 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 | a0001c0001t0017a0001c0001t0018a0001c0001t0029others(8): Show | a0001c0001t0017g0038a0001c0001t0017g0049a0001c0001t0017g0078others(14): Show | 17 | 356 | 0.0478 | 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 | a0001c0001t0011a0001c0001t0038a0001c0001t0040others(4): Show | a0001c0001t0011g0352a0001c0001t0038g0351a0001c0001t0040g0348others(5): Show | 8 | 356 | 0.0225 | 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 | a0001c0001t0001g0065a0001c0001t0002g0005a0001c0001t0002g0035others(4): Show | 11 | 430 | 0.0256 | 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 | a0001c0001t0001g0057a0001c0001t0001g0074a0001c0001t0001g0075others(100): Show | 103 | 380 | 0.2711 | 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(332): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0010a0001c0001t0001g0025a0001c0001t0001g0029others(332): Show | 335 | 380 | 0.8816 | 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(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0056a0001c0001t0001g0086a0001c0001t0001g0125others(97): Show | 100 | 330 | 0.3030 | 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 | a0001c0001t0009g0095a0001c0001t0009g0115a0001c0001t0009g0142others(8): Show | 11 | 206 | 0.0534 | 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 | a0001c0001t0002g0093a0001c0001t0003g0117a0001c0001t0007g0127others(2): Show | 5 | 206 | 0.0243 | 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 | a0001c0001t0001g0073a0001c0001t0001g0096a0001c0001t0001g0097others(20): Show | 23 | 206 | 0.1117 | 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 | a0001c0001t0001g0088a0001c0001t0001g0120a0001c0001t0001g0176others(6): Show | 9 | 206 | 0.0437 | 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 | a0001c0001t0012g0133a0001c0001t0013g0161a0001c0001t0055g0024 | 3 | 206 | 0.0146 | 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 | a0001c0001t0018g0158a0001c0001t0024g0056a0001c0001t0045g0004others(4): Show | 7 | 206 | 0.0340 | 9 | c.-13 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| GNG7_chr19_2506219_2707694 | 2659592 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG01433.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(6): Show | a0001c0001t0001g0166a0001c0001t0014g0196a0001c0001t0019g0003others(6): Show | 9 | 206 | 0.0437 | 9 | c.-13 others(30): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| GNG8_chr19_46628953_46641202 | 46630329 | C | CTCTCTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01081.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0014others(8): Show | 23 | 438 | 0.0525 | 9 | c.*37 others(20): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 3623 | chr19 | TogoVar | ||||||
| GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCCCCC others(2): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01517.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0008g0086others(3): Show | 6 | 277 | 0.0217 | 9 | c.-31 others(18): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | ||||||
| GNMT_chr6_42955754_42968880 | 42961550 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 15 | 388 | 0.0387 | 9 | c.206 others(24): Show |
GNMT | ENSG00000124713.6 | transcript | ENST00000372808.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GNS_chr12_64708449_64764406 | 64732153 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0156a0001c0001t0001g0170a0001c0001t0001g0207others(5): Show | 8 | 352 | 0.0227 | 9 | c.109 others(28): Show |
GNS | ENSG00000135677.11 | transcript | ENST00000258145.8 | protein_coding | 9/13 | chr12 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132787591 | A | AGACCCCG others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03490.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032a0001c0001t0033 | a0001c0001t0003g0115a0001c0001t0003g0139a0001c0001t0032g0107others(1): Show | 4 | 308 | 0.0130 | 9 | c.281 others(26): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
| GOLGA4_chr3_37238271_37371879 | 37254530 | G | GTTTAATT others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02970.hp1 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0004a0007c0008t0006g0005a0007c0008t0006g0006others(2): Show | 5 | 272 | 0.0184 | 9 | c.162 others(26): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GOLGA5_chr14_92789305_92844947 | 92804821 | A | AATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(233): Show | 319 | 390 | 0.8180 | 9 | c.545 others(26): Show |
GOLGA5 | ENSG00000066455.13 | transcript | ENST00000163416.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GOLGA5_chr14_92789305_92844947 | 92835941 | A | ACAGGGTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(218): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0006a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(171): Show | 221 | 390 | 0.5667 | 9 | c.205 others(26): Show |
GOLGA5 | ENSG00000066455.13 | transcript | ENST00000163416.7 | protein_coding | 11/12 | chr14 | TogoVar | ||||||
| GOLGA6L7_chr15_28836832_28853644 | 28852109 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02027.hp2 HG02056.hp1 others(4): Show |
a0003a0004a0007 | a0003c0003a0004c0004a0007c0008 | a0003c0003t0002a0004c0004t0002a0004c0004t0006others(1): Show | a0003c0003t0002g0002a0004c0004t0002g0005a0004c0004t0006g0088others(1): Show | 7 | 422 | 0.0166 | 9 | c.-35 others(20): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 3466 | chr15 | TogoVar | ||||||
| GOLGA8A_chr15_34374068_34442808 | 34375595 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG03579.hp1 others(2): Show |
a0001a0012a0015 | a0001c0001a0012c0014a0015c0019 | a0001c0001t0005a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0005g0069a0001c0001t0009g0137a0001c0001t0017g0105others(2): Show | 5 | 245 | 0.0204 | 9 | c.*58 others(20): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3472 | chr15 | TogoVar | ||||||
| GOLGA8A_chr15_34374068_34442808 | 34418130 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01109.hp2 others(13): Show |
a0004a0026a0028 | a0004c0004a0026c0043a0028c0045 | a0004c0004t0025a0004c0004t0026a0004c0004t0033others(9): Show | a0004c0004t0025g0212a0004c0004t0026g0222a0004c0004t0026g0224others(13): Show | 16 | 245 | 0.0653 | 9 | c.-11 others(32): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | ||||||
| GOLGA8A_chr15_34374068_34442808 | 34418130 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0010 | a0010c0010 | a0010c0010t0027a0010c0010t0063a0010c0010t0081 | a0010c0010t0027g0043a0010c0010t0027g0044a0010c0010t0063g0031others(1): Show | 4 | 245 | 0.0163 | 9 | c.-11 others(32): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | ||||||
| GOLGA8G_chr15_28514611_28537971 | 28514859 | T | TTGGTAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03139.hp1 others(1): Show |
a0000 | a0000c0004a0000c0023 | a0000c0004t0005a0000c0004t0019a0000c0023t0005 | a0000c0004t0005g0004a0000c0004t0019g0028a0000c0023t0005g0027 | 4 | 100 | 0.0400 | 9 | c.*77 others(20): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 4751 | chr15 | TogoVar | ||||||
| GOLGA8H_chr15_30599028_30622752 | 30618764 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02602.hp2 HG03471.hp2 others(4): Show |
a0002a0006a0011others(1): Show | a0002c0002a0006c0006a0011c0011others(1): Show | a0002c0002t0004a0006c0006t0003a0011c0011t0004others(1): Show | a0002c0002t0004g0129a0002c0002t0004g0130a0006c0006t0003g0015others(3): Show | 7 | 387 | 0.0181 | 9 | c.*42 others(20): Show |
GOLGA8H | ENSG00000261794.2 | transcript | ENST00000566740.2 | protein_coding | 1013 | chr15 | TogoVar | ||||||
| GOLGA8S_chr15_23349748_23373341 | 23361170 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02055.hp2 others(19): Show |
a0003a0004a0005others(7): Show | a0003c0003a0004c0004a0005c0005others(7): Show | a0003c0003t0001a0004c0004t0002a0005c0005t0003others(7): Show | a0003c0003t0001g0051a0003c0003t0001g0228a0003c0003t0001g0236others(15): Show | 22 | 430 | 0.0512 | 9 | c.914 others(22): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GOLGB1_chr3_121658201_121754741 | 121727321 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02135.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0292a0002c0003t0002g0293a0002c0003t0002g0298others(3): Show | 6 | 370 | 0.0162 | 9 | c.403 others(24): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar |