| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GNA14_chr9_77418079_77653322 | 77484948 | G | GTTATAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0014others(169): Show | 172 | 240 | 0.7167 | 8 | c.309 others(27): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77586951 | G | GCTTACCT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01169.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0010a0001c0008t0001g0132a0001c0008t0001g0133 | 3 | 240 | 0.0125 | 8 | c.125 others(27): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77593334 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0006g0145a0001c0002t0001g0127a0001c0002t0001g0131others(6): Show | 9 | 240 | 0.0375 | 8 | c.124 others(27): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77608732 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0013a0001c0002t0001a0001c0006t0010others(2): Show | a0001c0001t0013g0138a0001c0002t0001g0135a0001c0002t0001g0136others(4): Show | 7 | 240 | 0.0292 | 8 | c.124 others(27): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GNA15_chr19_3131033_3168749 | 3131893 | C | CAATAAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 HG02922.hp1 HG03017.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0027a0001c0001t0001g0245a0001c0002t0001g0002others(5): Show | 8 | 450 | 0.0178 | 8 | c.-45 others(19): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 4139 | chr19 | TogoVar | ||||||
| GNA15_chr19_3131033_3168749 | 3140044 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0019others(193): Show | 208 | 450 | 0.4622 | 8 | c.145 others(25): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GNA15_chr19_3131033_3168749 | 3156163 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0185a0001c0001t0001g0256a0001c0001t0002g0018others(9): Show | 13 | 450 | 0.0289 | 8 | c.744 others(23): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GNA15_chr19_3131033_3168749 | 3156196 | A | ACTACAGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02258.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(1): Show | a0001c0001t0001g0328a0001c0002t0001g0016a0001c0002t0001g0035others(20): Show | 24 | 450 | 0.0533 | 8 | c.744 others(23): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GNA15_chr19_3131033_3168749 | 3165010 | T | TAATAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG01515.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0268a0001c0001t0004g0417a0001c0001t0006g0015others(2): Show | 6 | 450 | 0.0133 | 8 | c.*19 others(19): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1262 | chr19 | TogoVar | ||||||
| GNAI1_chr7_80129831_80231181 | 80187209 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00642.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0001g0286a0001c0001t0005g0005a0001c0001t0006g0032others(49): Show | 53 | 312 | 0.1699 | 8 | c.119 others(25): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GNAI1_chr7_80129831_80231181 | 80219027 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(105): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(29): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0023others(105): Show | 108 | 312 | 0.3462 | 8 | c.*15 others(19): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 8/8 | 1568 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| GNAI3_chr1_109543615_109605195 | 109555951 | A | AGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(3): Show | a0001c0001t0001g0133a0001c0001t0001g0216a0001c0001t0006g0132others(4): Show | 7 | 310 | 0.0226 | 8 | c.118 others(25): Show |
GNAI3 | ENSG00000065135.12 | transcript | ENST00000369851.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GNAI3_chr1_109543615_109605195 | 109555963 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0079 | a0001c0001t0023g0016a0001c0001t0079g0213 | 3 | 310 | 0.0097 | 8 | c.118 others(25): Show |
GNAI3 | ENSG00000065135.12 | transcript | ENST00000369851.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GNAI3_chr1_109543615_109605195 | 109555963 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02572.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0046a0001c0001t0005g0047a0001c0001t0030g0214others(1): Show | 4 | 310 | 0.0129 | 8 | c.118 others(25): Show |
GNAI3 | ENSG00000065135.12 | transcript | ENST00000369851.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11692807 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0029others(34): Show | a0001c0001t0003g0017a0001c0001t0003g0037a0001c0001t0003g0039others(43): Show | 46 | 248 | 0.1855 | 8 | c.376 others(25): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11695909 | T | TGCACGCA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02723.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0012a0001c0001t0042a0001c0001t0052others(2): Show | a0001c0001t0012g0244a0001c0001t0012g0245a0001c0001t0042g0248others(3): Show | 6 | 248 | 0.0242 | 8 | c.376 others(25): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11703795 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG03540.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0023a0001c0001t0052a0001c0001t0060others(2): Show | a0001c0001t0023g0104a0001c0001t0052g0246a0001c0001t0060g0247others(2): Show | 5 | 248 | 0.0202 | 8 | c.376 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11788906 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG03654.hp2 HG04184.hp2 NA19000.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0069a0001c0001t0081others(1): Show | a0001c0001t0002g0171a0001c0001t0002g0204a0001c0001t0069g0158others(2): Show | 5 | 248 | 0.0202 | 8 | c.624 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11788908 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18941.hp2 NA18957.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0096others(4): Show | a0001c0001t0007g0139a0001c0001t0007g0178a0001c0001t0008g0140others(5): Show | 8 | 248 | 0.0323 | 8 | c.624 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11788914 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0029others(7): Show | a0001c0001t0003g0017a0001c0001t0012g0244a0001c0001t0012g0245others(8): Show | 11 | 248 | 0.0444 | 8 | c.624 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11790984 | T | TGATTGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0161others(106): Show | 109 | 248 | 0.4395 | 8 | c.625 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
| GNAL_chr18_11684264_11890685 | 11796363 | G | GTCGGGAG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01167.hp1 HG01243.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0021a0001c0001t0022a0001c0001t0033others(10): Show | a0001c0001t0021g0029a0001c0001t0022g0059a0001c0001t0022g0060others(11): Show | 14 | 248 | 0.0565 | 8 | c.625 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11804170 | T | TGTGTAGC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0032a0004c0004t0053 | a0001c0001t0032g0033a0001c0001t0032g0034a0004c0004t0053g0002 | 3 | 248 | 0.0121 | 8 | c.625 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(109): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0161others(138): Show | 141 | 248 | 0.5686 | 8 | c.625 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(115): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(91): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0161others(115): Show | 118 | 248 | 0.4758 | 8 | c.722 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11846464 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0032a0001c0001t0083a0001c0001t0155others(3): Show | a0001c0001t0032g0033a0001c0001t0032g0034a0001c0001t0083g0142others(4): Show | 7 | 248 | 0.0282 | 8 | c.723 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11846464 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(78): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0161others(103): Show | 106 | 248 | 0.4274 | 8 | c.723 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11684264_11890685 | 11861963 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 NA18747.hp2 NA18949.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0220a0001c0001t0007g0125a0001c0001t0009g0103others(3): Show | 6 | 248 | 0.0242 | 8 | c.723 others(23): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11788906 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03654.hp1 HG04184.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0050others(3): Show | a0001c0001t0001g0136a0001c0001t0001g0160a0001c0001t0002g0126others(4): Show | 7 | 284 | 0.0247 | 8 | c.393 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11788908 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18941.hp1 NA18961.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0001g0180a0001c0001t0006g0099a0001c0001t0010g0115others(5): Show | 8 | 284 | 0.0282 | 8 | c.393 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(6): Show | a0001c0001t0003g0252a0001c0001t0003g0263a0001c0001t0009g0250others(8): Show | 11 | 284 | 0.0387 | 8 | c.393 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11790984 | T | TGATTGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(122): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0089a0001c0001t0001g0112a0001c0001t0001g0113others(122): Show | 125 | 284 | 0.4401 | 8 | c.394 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
| GNAL_chr18_11747085_11890685 | 11796363 | G | GTCGGGAG others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01243.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0005g0278others(13): Show | 16 | 284 | 0.0563 | 8 | c.394 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11804170 | T | TGTGTAGC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0120 | a0001c0001t0036g0184a0001c0001t0036g0185a0001c0001t0120g0204 | 3 | 284 | 0.0106 | 8 | c.394 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(159): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | a0001c0001t0001g0080a0001c0001t0001g0112a0001c0001t0001g0113others(159): Show | 162 | 284 | 0.5704 | 8 | c.394 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(123): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(86): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0080others(123): Show | 126 | 284 | 0.4437 | 8 | c.491 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11846464 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0036a0001c0001t0043others(3): Show | a0001c0001t0025g0272a0001c0001t0036g0184a0001c0001t0036g0185others(4): Show | 7 | 284 | 0.0247 | 8 | c.492 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11846464 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(111): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(76): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0080others(111): Show | 114 | 284 | 0.4014 | 8 | c.492 others(27): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11861963 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02056.hp2 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0002g0166a0001c0001t0010g0168a0001c0001t0013g0183others(3): Show | 6 | 284 | 0.0211 | 8 | c.492 others(23): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56256678 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02257.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0003g0030others(2): Show | 5 | 298 | 0.0168 | 8 | c.162 others(27): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56297522 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 NA18973.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0241a0001c0001t0008g0037a0001c0001t0008g0045 | 3 | 298 | 0.0101 | 8 | c.303 others(27): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56298908 | C | CTGTCTCA others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02074.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0071a0001c0001t0001g0072others(3): Show | 6 | 298 | 0.0201 | 8 | c.303 others(27): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56300008 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02738.hp1 HG04115.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0270a0001c0001t0002g0273others(5): Show | 8 | 298 | 0.0269 | 8 | c.303 others(27): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56355125 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0002t0014 | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0017g0290others(2): Show | 5 | 298 | 0.0168 | 8 | c.*28 others(21): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56355207 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp2 NA18945.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048a0001c0001t0005g0201a0001c0001t0005g0206others(7): Show | 10 | 298 | 0.0336 | 8 | c.*28 others(23): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GNAO1_chr16_56186489_56362444 | 56359469 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0057others(41): Show | 44 | 298 | 0.1477 | 8 | c.*33 others(19): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2026 | chr16 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77821724 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0199a0001c0001t0003g0209a0001c0001t0003g0213others(7): Show | 10 | 282 | 0.0355 | 8 | c.322 others(25): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00673.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0112a0001c0001t0003g0093a0001c0001t0004g0055others(15): Show | 18 | 282 | 0.0638 | 8 | c.322 others(27): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77863179 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01081.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0001g0112a0001c0001t0005g0056a0001c0001t0015g0134others(7): Show | 10 | 282 | 0.0355 | 8 | c.322 others(27): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77941907 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02071.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0111a0001c0001t0002g0239a0001c0001t0005g0263others(5): Show | 8 | 282 | 0.0284 | 8 | c.137 others(27): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 1/6 | chr9 | TogoVar |