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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA14_chr9_77418079_77653322 | 77437039 | GGCCCTCA | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(3): Show | a0001c0001t0001g0014 a0001c0001t0002g0211 a0001c0001t0016g0057 others(12): Show |
15 | 240 | 0.0625 | -7 | c.310 others(24): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77498382 | AAAAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0064 others(56): Show |
59 | 240 | 0.2458 | -7 | c.309 others(26): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77515960 | CAAAAAAA | C | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0014a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0014g0225 a0001c0002t0001g0168 a0001c0002t0002g0224 others(2): Show |
5 | 240 | 0.0208 | -7 | c.309 others(26): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77618599 | TATATATA | T | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0093 a0001c0001t0002g0220 a0001c0002t0001g0080 others(3): Show |
6 | 240 | 0.0250 | -7 | c.124 others(26): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77618613 | TATATATA | T | intron_variant | MODIFIER | HG02572.hp2 HG03453.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0130 a0001c0001t0003g0090 a0001c0001t0003g0116 others(1): Show |
4 | 240 | 0.0167 | -7 | c.124 others(26): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80153743 | AGTGGTAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0032a0001c0001t0036others(3): Show | a0001c0001t0010g0298 a0001c0001t0010g0299 a0001c0001t0010g0301 others(8): Show |
11 | 312 | 0.0353 | -7 | c.118 others(26): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11769031 | TATATATA | T | intron_variant | MODIFIER | HG01074.hp1 HG02109.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027a0001c0001t0169 | a0001c0001t0010g0216 a0001c0001t0027g0147 a0001c0001t0169g0021 |
3 | 248 | 0.0121 | -7 | c.624 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11849501 | CAAAAAAA | C | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 HG03195.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0040a0001c0001t0121a0001c0001t0125others(2): Show | a0001c0001t0040g0065 a0001c0001t0121g0145 a0001c0001t0125g0106 others(2): Show |
5 | 248 | 0.0202 | -7 | c.723 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11769031 | TATATATA | T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0138a0001c0001t0141others(1): Show | a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0138g0177 others(2): Show |
5 | 284 | 0.0176 | -7 | c.393 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77832953 | CTTTATTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0073a0001c0001t0085others(1): Show | a0001c0001t0013g0031 a0001c0001t0013g0037 a0001c0001t0013g0042 others(5): Show |
8 | 282 | 0.0284 | -7 | c.322 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77886335 | ACACATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(198): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0058 a0001c0001t0001g0111 a0001c0001t0001g0112 others(198): Show |
201 | 282 | 0.7128 | -7 | c.321 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77918466 | TTTATAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0001g0162 others(24): Show |
27 | 282 | 0.0957 | -7 | c.321 others(24): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77996677 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 others(88): Show |
91 | 282 | 0.3227 | -7 | c.136 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNAS_chr20_58834748_58916192 | 58893066 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(102): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(94): Show |
105 | 302 | 0.3477 | -7 | c.*43 others(24): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58847716_58916192 | 58893066 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(86): Show |
98 | 302 | 0.3245 | -7 | c.206 others(26): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAS_chr20_58886421_58916192 | 58893066 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(181): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(94): Show |
184 | 432 | 0.4259 | -7 | c.139 others(24): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GNAT3_chr7_80453635_80517064 | 80454539 | TGTGTGTG | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(121): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(110): Show |
124 | 334 | 0.3713 | -7 | c.*41 others(18): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 4095 | chr7 | TogoVar | |||||||
GNAZ_chr22_23065519_23130032 | 23070353 | TGGCGGCG | T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01070.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0001 | a0001c0001t0002g0008 a0001c0001t0006g0008 a0001c0001t0006g0034 others(1): Show |
5 | 334 | 0.0150 | -7 | c.-66 others(16): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 165 | chr22 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1784338 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 others(3): Show |
6 | 336 | 0.0179 | -7 | c.*27 others(18): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 947 | chr1 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1818305 | TAAAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00733.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0086 others(53): Show |
58 | 336 | 0.1726 | -7 | c.58- others(20): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1869528 | CCCTGCTT | C | intron_variant | MODIFIER | NA18939.hp1 NA18942.hp2 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show |
6 | 336 | 0.0179 | -7 | c.-96 others(26): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB4_chr3_179391088_179456470 | 179430252 | ATTTTCTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0026a0001c0002t0033 | a0001c0002t0015g0197 a0001c0002t0015g0216 a0001c0002t0015g0217 others(5): Show |
9 | 400 | 0.0225 | -7 | c.-42 others(24): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52112811 | GCCCCGGC | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(73): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0016a0001c0001t0031a0001c0001t0032others(60): Show | a0001c0001t0016g0332 a0001c0001t0016g0343 a0001c0001t0016g0344 others(73): Show |
76 | 366 | 0.2077 | -7 | c.*99 others(18): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 2288 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36210099 | TTTTTTTC | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01109.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0016others(20): Show | a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0164 others(45): Show |
53 | 374 | 0.1417 | -7 | c.*72 others(18): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 4341 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36257802 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0039 a0001c0001t0002g0005 a0001c0001t0002g0036 others(8): Show |
12 | 374 | 0.0321 | -7 | c.-43 others(22): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36260868 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(116): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0002g0001 others(109): Show |
119 | 374 | 0.3182 | -7 | c.-25 others(18): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 2421 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36210099 | TTTTTTTC | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01109.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0019others(20): Show | a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0022 others(48): Show |
52 | 356 | 0.1461 | -7 | c.*72 others(18): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 4341 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36257802 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 others(9): Show |
12 | 356 | 0.0337 | -7 | c.52- others(22): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36260868 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(110): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0002g0079 others(109): Show |
113 | 356 | 0.3174 | -7 | c.52- others(24): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNG10_chr9_111656605_111675226 | 111663821 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(175): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(54): Show |
178 | 430 | 0.4140 | -7 | c.81+ others(22): Show |
GNG10 | ENSG00000242616.4 | transcript | ENST00000374293.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795544 | CAAACACA | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 4 | 422 | 0.0095 | -7 | c.*31 others(18): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2496 | chr16 | TogoVar | |||||||
GNG4_chr1_235542685_235654784 | 235645797 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(16): Show | a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0271 others(23): Show |
26 | 330 | 0.0788 | -7 | c.-12 others(26): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2548178 | ACAAAAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0197 others(46): Show |
49 | 206 | 0.2379 | -7 | c.-38 others(24): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2580286 | ATTTTTTT | A | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0059others(2): Show | a0001c0001t0012g0050 a0001c0001t0017g0025 a0001c0001t0059g0183 others(2): Show |
5 | 206 | 0.0243 | -7 | c.-77 others(26): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2591453 | GTTTTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0024others(7): Show | a0001c0001t0013g0041 a0001c0001t0018g0158 a0001c0001t0024g0056 others(7): Show |
10 | 206 | 0.0485 | -7 | c.-77 others(26): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2594440 | AAGGAAGG | A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0047a0001c0001t0053others(2): Show | a0001c0001t0013g0041 a0001c0001t0047g0017 a0001c0001t0053g0035 others(2): Show |
5 | 206 | 0.0243 | -7 | c.-77 others(26): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661670 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01257.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0003g0148 a0001c0001t0007g0051 a0001c0001t0008g0045 others(18): Show |
21 | 206 | 0.1019 | -7 | c.-13 others(28): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG8_chr19_46628953_46641202 | 46635754 | AGGGGGTG | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(136): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(16): Show |
139 | 438 | 0.3174 | -7 | c.-44 others(22): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
GNL2_chr1_37561816_37600937 | 37584471 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0107 |
7 | 376 | 0.0186 | -7 | c.570 others(22): Show |
GNL2 | ENSG00000134697.13 | transcript | ENST00000373062.8 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54527463 | TCCTGGGC | T | upstream_gene_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0135 | 1 | 277 | 0.0036 | -7 | c.-30 others(18): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 2755 | chrX | TogoVar | |||||||
GNMT_chr6_42955754_42968880 | 42961550 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(156): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show |
159 | 388 | 0.4098 | -7 | c.206 others(22): Show |
GNMT | ENSG00000124713.6 | transcript | ENST00000372808.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GNPDA2_chr4_44696795_44731556 | 44721629 | TTATATAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0017 others(19): Show |
81 | 412 | 0.1966 | -7 | c.124 others(22): Show |
GNPDA2 | ENSG00000163281.12 | transcript | ENST00000295448.8 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
GNPNAT1_chr14_52770193_52796607 | 52793780 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0081 others(47): Show |
91 | 390 | 0.2333 | -7 | c.-23 others(18): Show |
GNPNAT1 | ENSG00000100522.10 | transcript | ENST00000216410.8 | protein_coding | 2174 | chr14 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1367504 | CCCTCCCT | C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01981.hp1 NA19000.hp2 others(3): Show |
a0001a0010 | a0001c0001a0010c0016 | a0001c0001t0001a0010c0016t0014 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0036 others(3): Show |
6 | 378 | 0.0159 | -7 | c.*44 others(18): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 3392 | chr16 | TogoVar | |||||||
GOLGA1_chr9_124873275_124946083 | 124939546 | CTTTCTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02258.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0009 | a0003c0004t0006g0059 a0003c0004t0006g0062 a0003c0004t0006g0063 others(6): Show |
9 | 374 | 0.0241 | -7 | c.-15 others(24): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132776331 | GCTGTAGC | G | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01106.hp2 others(24): Show |
a0001a0002a0016others(1): Show | a0001c0001a0001c0003a0001c0025others(4): Show | a0001c0001t0004a0001c0003t0004a0001c0003t0011others(10): Show | a0001c0001t0004g0079 a0001c0001t0004g0126 a0001c0001t0004g0127 others(24): Show |
27 | 308 | 0.0877 | -7 | c.397 others(24): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132791050 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01257.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0012a0005c0005 | a0001c0001t0003a0001c0001t0032a0001c0001t0055others(3): Show | a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0115 others(6): Show |
9 | 308 | 0.0292 | -7 | c.254 others(24): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 12/23 | chr12 | TogoVar | |||||||
GOLGA5_chr14_92789305_92844947 | 92796976 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01175.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0089 a0001c0001t0001g0090 others(6): Show |
12 | 390 | 0.0308 | -7 | c.-30 others(22): Show |
GOLGA5 | ENSG00000066455.13 | transcript | ENST00000163416.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GOLGA6A_chr15_74064857_74087550 | 74067222 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01943.hp1 HG01978.hp2 others(13): Show |
a0001a0004a0007others(3): Show | a0001c0001a0004c0013a0007c0015others(3): Show | a0001c0001t0001a0004c0013t0001a0007c0015t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0041 others(12): Show |
16 | 137 | 0.1168 | -7 | c.*36 others(18): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 2634 | chr15 | TogoVar | |||||||
GOLGA6A_chr15_74064857_74087550 | 74074555 | GCGCGAGC | G | frameshift_variant | HIGH | HG02976.hp2 | a0024 | a0024c0037 | a0024c0037t0001 | a0024c0037t0001g0098 | 1 | 137 | 0.0073 | -7 | c.128 others(16): Show |
p.Arg others(5): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 11/18 | 1334/3176 | 1287/2082 | 429/693 | chr15 | TogoVar |