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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLDC_chr9_6527467_6650729 | 6545099 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0243 | 1 | 342 | 0.0029 | -13 | c.257 others(32): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 21/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6589566 | TACAGGTG others(6): Show |
T | intron_variant | MODIFIER | HG01168.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0100 a0001c0004t0001g0101 |
2 | 342 | 0.0059 | -13 | c.148 others(30): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 11/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6633821 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0286 | 1 | 342 | 0.0029 | -13 | c.334 others(32): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLE1_chr9_128499719_128547288 | 128537453 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01361.hp2 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0211 a0002c0002t0003g0015 a0002c0002t0003g0155 others(26): Show |
29 | 360 | 0.0806 | -13 | c.177 others(30): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74495779 | TGAGAAGT others(6): Show |
T | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 342 | 0.0029 | -13 | c.978 others(28): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 5/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74539984 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0056 | 1 | 342 | 0.0029 | -13 | c.439 others(30): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74574883 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0194 a0001c0004t0001g0197 |
2 | 342 | 0.0059 | -13 | c.438 others(32): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74609329 | CTTTTTTC others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 | 1 | 342 | 0.0029 | -13 | c.-22 others(24): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 2216 | chr16 | TogoVar | |||||||
GLI1_chr12_57454785_57477268 | 57463335 | AGCCTTCC others(6): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 414 | 0.0024 | -13 | c.-27 others(28): Show |
GLI1 | ENSG00000111087.10 | transcript | ENST00000228682.7 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42020889 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0035 others(131): Show |
134 | 158 | 0.8481 | -13 | c.149 others(32): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42102335 | AAGCCTGA others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02647.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0010 | a0001c0001t0001a0001c0005t0007a0006c0010t0007 | a0001c0001t0001g0043 a0001c0005t0007g0037 a0001c0005t0007g0045 others(2): Show |
5 | 158 | 0.0317 | -13 | c.368 others(32): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
GLIPR1L2_chr12_75386089_75437688 | 75398979 | AAACTATA others(6): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 360 | 0.0028 | -13 | c.234 others(30): Show |
GLIPR1L2 | ENSG00000180481.11 | transcript | ENST00000550916.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53653070 | TCCTGTGG others(6): Show |
T | intron_variant | MODIFIER | NA18945.hp1 NA19085.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0004 | a0001c0001t0002g0123 a0001c0001t0002g0170 a0001c0005t0004g0166 |
3 | 236 | 0.0127 | -13 | c.260 others(32): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4325929 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 2 | 395 | 0.0051 | -13 | c.-66 others(30): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3853361 | CTCTTGTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(63): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(63): Show |
66 | 188 | 0.3511 | -13 | c.247 others(32): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 9/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3882476 | GTGCATTA others(6): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0010a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(137): Show |
140 | 188 | 0.7447 | -13 | c.212 others(32): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG02451.hp2 HG02723.hp1 others(2): Show |
a0002a0004a0008others(1): Show | a0002c0002a0004c0003a0008c0008others(1): Show | a0002c0002t0003a0002c0002t0041a0004c0003t0014others(2): Show | a0002c0002t0003g0107 a0002c0002t0041g0050 a0004c0003t0014g0056 others(2): Show |
5 | 188 | 0.0266 | -13 | c.171 others(34): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4047510 | ACTTAAAT others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0032 | 1 | 188 | 0.0053 | -13 | c.171 others(34): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLP2R_chr17_9820924_9897099 | 9844668 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0335 a0001c0021t0001g0023 |
2 | 380 | 0.0053 | -13 | c.504 others(30): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849099 | TTTTCTTT others(6): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0130 | 1 | 284 | 0.0035 | -13 | c.912 others(30): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLRA2_chrX_14524536_14736812 | 14557102 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0056 | 1 | 232 | 0.0043 | -13 | c.203 others(32): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14703838 | GGTCACCT others(6): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0028 | 1 | 232 | 0.0043 | -13 | c.108 others(34): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
GLRB_chr4_157071150_157177090 | 157076458 | TGCGCGGG others(6): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02647.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0003g0255 a0001c0001t0010g0256 a0001c0001t0010g0258 others(4): Show |
7 | 306 | 0.0229 | -13 | c.-30 others(28): Show |
GLRB | ENSG00000109738.11 | transcript | ENST00000264428.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GLRB_chr4_157071150_157177090 | 157173590 | GGAGTTGC others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01981.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0007a0001c0008t0024 | a0001c0001t0003g0026 a0001c0001t0003g0074 a0001c0001t0007g0193 others(7): Show |
10 | 306 | 0.0327 | -13 | c.*28 others(24): Show |
GLRB | ENSG00000109738.11 | transcript | ENST00000264428.9 | protein_coding | 1501 | chr4 | TogoVar | |||||||
GLRX3_chr10_130131391_130184672 | 130157493 | GCCCCCCC others(6): Show |
G | intron_variant | MODIFIER | HG02080.hp2 NA18939.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0328 a0001c0001t0001g0329 others(1): Show |
5 | 424 | 0.0118 | -13 | c.202 others(30): Show |
GLRX3 | ENSG00000108010.12 | transcript | ENST00000331244.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874084 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA19058.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0099 a0001c0002t0001g0131 |
2 | 320 | 0.0063 | -13 | c.69- others(28): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128874126 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 320 | 0.0031 | -13 | c.69- others(28): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128922922 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 320 | 0.0031 | -13 | c.470 others(30): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128977766 | TTTTTTCT others(6): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 320 | 0.0031 | -13 | c.880 others(30): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLT6D1_chr9_135618648_135644540 | 135624724 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0043 others(23): Show |
43 | 436 | 0.0986 | -13 | c.258 others(26): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
GLUL_chr1_182373098_182396790 | 182377118 | GATTTTGT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0050 | 1 | 400 | 0.0025 | -13 | c.*72 others(24): Show |
GLUL | ENSG00000135821.19 | transcript | ENST00000331872.11 | protein_coding | 979 | chr1 | TogoVar | |||||||
GLYATL1_chr11_58934488_58961406 | 58956243 | CTTAAGTG others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0137 | 1 | 424 | 0.0024 | -13 | c.*21 others(22): Show |
GLYATL1 | ENSG00000166840.14 | transcript | ENST00000532726.6 | protein_coding | 7/7 | 217 | chr11 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652622 | TTATTTAT others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0091 others(7): Show |
10 | 166 | 0.0602 | -13 | c.988 others(32): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1667907 | AGACTGGG others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01069.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0031 others(32): Show |
35 | 166 | 0.2108 | -13 | c.988 others(32): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1987272 | CTTTTTTC others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 others(61): Show |
64 | 166 | 0.3855 | -13 | c.346 others(32): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2134725 | GAGTCATA others(6): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(28): Show |
31 | 166 | 0.1868 | -13 | c.103 others(31): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2162657 | CCAACACA others(6): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 166 | 0.0060 | -13 | c.103 others(32): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2243843 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081 a0001c0002t0001g0117 |
2 | 166 | 0.0121 | -13 | c.102 others(30): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
GMEB1_chr1_28663784_28724353 | 28695938 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02165.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0137 others(16): Show |
19 | 290 | 0.0655 | -13 | c.441 others(28): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GMEB1_chr1_28663784_28724353 | 28718682 | AAGAATTG others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0122 | 1 | 290 | 0.0035 | -13 | c.*39 others(24): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 10/10 | 3912 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GMEB2_chr20_63582605_63632101 | 63621667 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03017.hp2 NA18955.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0257 |
3 | 330 | 0.0091 | -13 | c.-57 others(30): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
GMFB_chr14_54469485_54493980 | 54489118 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0059 |
2 | 354 | 0.0057 | -13 | c.-20 others(22): Show |
GMFB | ENSG00000197045.14 | transcript | ENST00000358056.8 | protein_coding | 139 | chr14 | TogoVar | |||||||
GMPR_chr6_16233587_16300549 | 16296660 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp1 others(63): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0017 others(61): Show |
66 | 344 | 0.1919 | -13 | c.*14 others(24): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 1112 | chr6 | TogoVar | |||||||
GMPS_chr3_155865650_155949020 | 155886611 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0238 others(3): Show |
9 | 380 | 0.0237 | -13 | c.28- others(28): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GMPS_chr3_155865650_155949020 | 155920577 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0020a0005c0005t0020 | a0001c0001t0020g0023 a0005c0005t0020g0022 |
2 | 380 | 0.0053 | -13 | c.131 others(32): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2737269 | GTTTTGTT others(6): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0271 | 1 | 322 | 0.0031 | -13 | c.526 others(30): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2757129 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02135.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0017 a0001c0001t0003g0036 a0001c0001t0003g0055 others(1): Show |
4 | 322 | 0.0124 | -13 | c.526 others(32): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2806457 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0044 | 1 | 322 | 0.0031 | -13 | c.310 others(32): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2842090 | AAAGGAAG others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0297 | 1 | 322 | 0.0031 | -13 | c.309 others(30): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77431023 | TTTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0206 | 1 | 240 | 0.0042 | -13 | c.593 others(28): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar |