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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GJD2_chr15_34746032_34759998 | 34746228 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0006 | 1 | 443 | 0.0023 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4803 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746234 | AAAAAAAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0004 a0001c0001t0019g0032 |
2 | 421 | 0.0048 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4797 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 384 | 0.0026 | -17 | c.*62 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031631 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02129.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0210 a0001c0001t0001g0219 |
3 | 392 | 0.0077 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031633 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01358.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0010 a0001c0001t0001g0086 a0001c0001t0001g0203 others(11): Show |
14 | 378 | 0.0370 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031635 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG02273.hp1 HG04115.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0096 a0001c0001t0001g0224 |
3 | 380 | 0.0079 | -17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLDN_chr15_51336655_51413000 | 51342125 | TCTTCTCC others(10): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0016 a0001c0001t0001g0174 a0001c0001t0001g0175 others(96): Show |
106 | 410 | 0.2585 | -17 | c.363 others(30): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74454666 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0195 | 1 | 69 | 0.0145 | -17 | c.337 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 25/25 | chr16 | TogoVar | |||||||
GLI1_chr12_57454785_57477268 | 57462413 | GCGCCGGC others(10): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 412 | 0.0024 | -17 | c.-27 others(34): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120936324 | CCCCTGCT others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0025others(5): Show | a0001c0003t0001a0001c0003t0014a0001c0007t0007others(9): Show | a0001c0003t0001g0004 a0001c0003t0001g0087 a0001c0003t0014g0031 others(14): Show |
17 | 160 | 0.1063 | -17 | c.254 others(34): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53597176 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 42 | 0.0238 | -17 | c.438 others(34): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53615719 | TATTTATT others(10): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02970.hp2 others(2): Show |
a0002a0004a0009others(2): Show | a0002c0002a0004c0004a0009c0012others(2): Show | a0002c0002t0004a0004c0004t0009a0009c0012t0005others(2): Show | a0002c0002t0004g0130 a0004c0004t0009g0013 a0009c0012t0005g0186 others(2): Show |
5 | 234 | 0.0214 | -17 | c.260 others(36): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3860272 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG03139.hp1 NA18522.hp1 |
a0002a0011 | a0002c0002a0011c0017 | a0002c0002t0007a0011c0017t0063 | a0002c0002t0007g0033 a0002c0002t0007g0074 a0011c0017t0063g0174 |
3 | 18 | 0.1667 | -17 | c.229 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3914990 | TATGTCTT others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(183): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0010a0001c0012others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(119): Show | a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 others(183): Show |
186 | 188 | 0.9894 | -17 | c.198 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0006others(4): Show | a0001c0001t0002g0109 a0001c0001t0010g0002 a0002c0002t0006g0054 others(4): Show |
7 | 16 | 0.4375 | -17 | c.171 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4195240 | CCCTGTCT others(10): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0012a0001c0001t0015a0001c0001t0018others(22): Show | a0001c0001t0012g0043 a0001c0001t0015g0071 a0001c0001t0018g0072 others(23): Show |
26 | 188 | 0.1383 | -17 | c.389 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLMN_chr1_92241402_92303987 | 92250147 | GCTTTGAC others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0158 others(3): Show |
9 | 198 | 0.0455 | -17 | c.147 others(36): Show |
GLMN | ENSG00000174842.17 | transcript | ENST00000370360.8 | protein_coding | 16/18 | chr1 | TogoVar | |||||||
GLO1_chr6_38670925_38708145 | 38707586 | AAGAAAGG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0104 | 1 | 408 | 0.0025 | -17 | c.-45 others(28): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 4442 | chr6 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14557102 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02132.hp1 HG02145.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0067 a0001c0001t0001g0072 others(13): Show |
16 | 60 | 0.2667 | -17 | c.203 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRX3_chr10_130131391_130184672 | 130157493 | GCCCCCCC others(10): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 61 | 0.0164 | -17 | c.202 others(34): Show |
GLRX3 | ENSG00000108010.12 | transcript | ENST00000331244.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GLS_chr2_190875821_190970552 | 190880884 | AGCAGCAG others(10): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0251 | 1 | 378 | 0.0026 | -17 | c.-20 others(26): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 184 | chr2 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874085 | TTTCTTTC others(10): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 318 | 0.0031 | -17 | c.69- others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874130 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 318 | 0.0031 | -17 | c.69- others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128904623 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0023 others(121): Show |
124 | 137 | 0.9051 | -17 | c.375 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128928019 | AAAAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0073 | 1 | 318 | 0.0031 | -17 | c.615 others(32): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128977765 | CTTTTTTC others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 NA18975.hp1 NA19010.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0212 a0001c0001t0001g0226 a0003c0005t0002g0318 |
3 | 127 | 0.0236 | -17 | c.880 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLUD1_chr10_87045202_87099843 | 87079936 | CTCTCCCT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(7): Show |
10 | 330 | 0.0303 | -17 | c.446 others(34): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
GMPPA_chr2_219493891_219511989 | 219507943 | TGGACTGA others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | -17 | c.*11 others(28): Show |
GMPPA | ENSG00000144591.20 | transcript | ENST00000313597.10 | protein_coding | 955 | chr2 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2737272 | TTGTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01123.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0108 a0001c0001t0032g0128 |
2 | 320 | 0.0063 | -17 | c.526 others(34): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77618608 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02717.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0018a0001c0002t0001a0001c0006t0001 | a0001c0001t0018g0227 a0001c0002t0001g0148 a0001c0006t0001g0149 |
3 | 228 | 0.0132 | -17 | c.124 others(36): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77623216 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0001g0134 a0001c0001t0006g0133 a0001c0001t0006g0153 others(12): Show |
15 | 50 | 0.3000 | -17 | c.124 others(36): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77641094 | GGGGGGGG others(10): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 236 | 0.0042 | -17 | c.124 others(34): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3148783 | GCCAGGGC others(10): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0232 | 1 | 448 | 0.0022 | -17 | c.330 others(30): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3151046 | CTGTTCCT others(10): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0380 | 1 | 448 | 0.0022 | -17 | c.486 others(32): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAO1_chr16_56186489_56362444 | 56315839 | CGAGACCA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0148 | 1 | 296 | 0.0034 | -17 | c.304 others(36): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77828059 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02004.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0065a0001c0001t0066 | a0001c0001t0064g0206 a0001c0001t0065g0050 a0001c0001t0066g0065 |
3 | 17 | 0.1765 | -17 | c.322 others(36): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77857644 | GGGGGAAG others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(18): Show | a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0143 others(40): Show |
43 | 280 | 0.1536 | -17 | c.322 others(36): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAS_chr20_58834748_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 300 | 0.0033 | -17 | c.*49 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3512 | chr20 | TogoVar | |||||||
GNAS_chr20_58847716_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 300 | 0.0033 | -17 | c.*38 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3512 | chr20 | TogoVar | |||||||
GNAS_chr20_58886421_58916192 | 58914703 | TGAGGCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 430 | 0.0023 | -17 | c.*38 others(28): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3512 | chr20 | TogoVar | |||||||
GNAZ_chr22_23065519_23130032 | 23070746 | CGCCTGCG others(10): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 332 | 0.0030 | -17 | c.-45 others(34): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GNB4_chr3_179391088_179456470 | 179419408 | TATCCCCA others(10): Show |
T | frameshift_variant | HIGH | NA19082.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0135 | 1 | 398 | 0.0025 | -17 | c.177 others(24): Show |
p.Tyr others(4): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 4/10 | 360/6315 | 177/1023 | 59/340 | chr3 | TogoVar | |||
GNB5_chr15_52110100_52196392 | 52119338 | AAGGGAGG others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0198 | a0001c0001t0002g0040 a0001c0001t0198g0230 |
2 | 243 | 0.0082 | -17 | c.*34 others(28): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3402 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52190778 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0079 others(10): Show |
13 | 15 | 0.8667 | -17 | c.-19 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36277349 | CTTTTCTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0194 | 1 | 349 | 0.0029 | -17 | c.-42 others(26): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 372 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36277354 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03710.hp1 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0059 | a0001c0002t0016g0027 a0001c0002t0059g0028 |
2 | 86 | 0.0233 | -17 | c.-42 others(26): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 377 | chr9 | TogoVar | |||||||
GNG14_chr19_12682998_12693422 | 12693215 | GCGACTGG others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 368 | 0.0027 | -17 | c.*48 others(28): Show |
GNG14 | ENSG00000283980.1 | transcript | ENST00000640151.1 | protein_coding | 4794 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2638457 | GAGGGAAA others(10): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0018 | 1 | 204 | 0.0049 | -17 | c.-78 others(34): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657352 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0093a0001c0001t0096 | a0001c0001t0093g0030 a0001c0001t0096g0028 |
2 | 200 | 0.0100 | -17 | c.-13 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2696343 | AAAGAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0045 | a0001c0001t0024g0056 a0001c0001t0045g0004 |
2 | 204 | 0.0098 | -17 | c.-13 others(36): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar |