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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GHR_chr5_42418439_42726878 | 42529999 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0004t0011a0001c0004t0012others(7): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0004t0011g0001 others(18): Show |
21 | 210 | 0.1000 | -7 | c.-11 others(26): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42562644 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0021 a0001c0001t0004g0157 a0001c0001t0004g0180 others(19): Show |
22 | 210 | 0.1048 | -7 | c.-11 others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42614559 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0002g0021 a0001c0001t0004g0129 a0001c0001t0004g0157 others(91): Show |
94 | 210 | 0.4476 | -7 | c.71- others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232724207 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(50): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0005a0001c0010others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0005t0008others(9): Show | a0001c0002t0001g0196 a0001c0005t0001g0194 a0001c0005t0001g0195 others(50): Show |
53 | 376 | 0.1410 | -7 | c.-43 others(26): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232813187 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp2 HG01256.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0311 a0001c0002t0001g0336 a0001c0002t0001g0342 others(5): Show |
8 | 376 | 0.0213 | -7 | c.210 others(24): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMAP7_chr7_150509872_150526073 | 150518636 | GTTTGATA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(95): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0006 | a0001c0002t0001a0001c0009t0001a0003c0006t0001 | a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0025 others(6): Show |
98 | 466 | 0.2103 | -7 | c.-41 others(24): Show |
GIMAP7 | ENSG00000179144.5 | transcript | ENST00000313543.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103086041 | GCAAAAGT | G | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031 a0001c0001t0008g0032 |
4 | 322 | 0.0124 | -7 | c.*18 others(18): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 8/8 | 1850 | chr5 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25423452 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0337 a0001c0001t0002g0006 a0001c0001t0002g0007 others(98): Show |
103 | 360 | 0.2861 | -7 | c.331 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp1 HG01975.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0008g0334 others(3): Show |
6 | 360 | 0.0167 | -7 | c.447 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25435810 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(243): Show |
264 | 360 | 0.7333 | -7 | c.448 others(24): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25440810 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0168 a0001c0001t0001g0171 others(2): Show |
7 | 360 | 0.0194 | -7 | c.448 others(22): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85672810 | ATTATTTC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(12): Show | a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(59): Show |
77 | 470 | 0.1638 | -7 | c.*53 others(18): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 3387 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85682021 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0002g0199 a0001c0001t0004g0290 a0001c0001t0007g0050 others(78): Show |
171 | 470 | 0.3638 | -7 | c.206 others(22): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS3_chr16_58387471_58411147 | 58408440 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02486.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0051 others(2): Show |
8 | 434 | 0.0184 | -7 | c.*37 others(18): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 2294 | chr16 | TogoVar | |||||||
GIPC2_chr1_78040966_78143444 | 78100940 | ATACACAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG03453.hp2 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0016 | a0001c0001t0002a0002c0002t0001a0002c0002t0011others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0325 a0002c0002t0001g0030 others(5): Show |
8 | 332 | 0.0241 | -7 | c.607 others(24): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
GIPC2_chr1_78040966_78143444 | 78142354 | ATGTGTGT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0123 a0001c0001t0001g0195 a0001c0001t0002g0168 others(43): Show |
46 | 332 | 0.1386 | -7 | c.*66 others(18): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3911 | chr1 | TogoVar | |||||||
GIT2_chr12_109924804_110001368 | 109988848 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 a0001c0001t0009g0064 a0001c0001t0009g0065 others(2): Show |
5 | 242 | 0.0207 | -7 | c.405 others(22): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
GJA3_chr13_20133255_20166052 | 20159456 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0096 others(28): Show |
49 | 392 | 0.1250 | -7 | c.-18 others(24): Show |
GJA3 | ENSG00000121743.4 | transcript | ENST00000241125.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44821697 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01167.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0236 others(17): Show |
20 | 380 | 0.0526 | -7 | c.-97 others(24): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746236 | AAAAATAT | A | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02015.hp2 HG02056.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0008g0008 others(5): Show |
11 | 446 | 0.0247 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4795 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746238 | AAATATAT | A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0002t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0019g0024 a0001c0002t0003g0003 others(3): Show |
6 | 446 | 0.0135 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4793 | chr15 | TogoVar | |||||||
GJD2_chr15_34746032_34759998 | 34746240 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(13): Show | a0001c0002t0003g0003 a0001c0002t0004g0005 a0001c0002t0005g0004 others(13): Show |
27 | 446 | 0.0605 | -7 | c.*62 others(18): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4791 | chr15 | TogoVar | |||||||
GK5_chr3_142152527_142230585 | 142161084 | TTTTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0079others(5): Show | a0001c0001t0005g0005 a0001c0001t0005g0016 a0001c0001t0005g0019 others(17): Show |
21 | 272 | 0.0772 | -7 | c.*45 others(18): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 4531 | chr3 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30657703 | AGTAACTG | A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0185 | 1 | 286 | 0.0035 | -7 | c.78+ others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30684666 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 286 | 0.0035 | -7 | c.338 others(24): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30707731 | CAATACAA | C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 286 | 0.0035 | -7 | c.894 others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLA_chrX_101392803_101412925 | 101411404 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0116 |
2 | 318 | 0.0063 | -7 | c.-35 others(18): Show |
GLA | ENSG00000102393.15 | transcript | ENST00000218516.4 | protein_coding | 3480 | chrX | TogoVar | |||||||
GLB1L2_chr11_134326988_134381324 | 134376263 | GCCCAACA | G | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02257.hp2 others(7): Show |
a0001a0002a0005 | a0001c0011a0002c0012a0002c0040others(2): Show | a0001c0011t0007a0002c0012t0007a0002c0040t0007others(2): Show | a0001c0011t0007g0182 a0001c0011t0007g0236 a0001c0011t0007g0378 others(7): Show |
10 | 414 | 0.0242 | -7 | c.*12 others(18): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 19/19 | 1208 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1L3_chr11_134271379_134324564 | 134279364 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 others(3): Show |
6 | 422 | 0.0142 | -7 | c.362 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308493 | CACCAAAT | C | intron_variant | MODIFIER | HG02922.hp2 HG03492.hp2 HG03942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0171 a0001c0001t0006g0133 a0001c0002t0001g0137 others(3): Show |
6 | 422 | 0.0142 | -7 | c.962 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031611 | CAAAAAAA | C | intron_variant | MODIFIER | HG03130.hp2 NA18966.hp1 NA18971.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0105 a0002c0002t0001g0358 a0002c0003t0001g0273 others(3): Show |
6 | 394 | 0.0152 | -7 | c.106 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031637 | AAAAATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01168.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0021 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 others(6): Show |
9 | 394 | 0.0228 | -7 | c.106 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031639 | AAATATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0001t0002g0066 others(8): Show |
11 | 394 | 0.0279 | -7 | c.106 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031641 | ATATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp2 others(28): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0154 a0001c0001t0001g0166 others(28): Show |
31 | 394 | 0.0787 | -7 | c.106 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33056227 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0105 others(46): Show |
49 | 394 | 0.1244 | -7 | c.733 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33095210 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG02559.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0010a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(1): Show | a0001c0001t0001g0072 a0001c0001t0002g0226 a0001c0001t0002g0227 others(5): Show |
8 | 394 | 0.0203 | -7 | c.75+ others(22): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 8012432 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02622.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0060a0001c0001t0061a0001c0001t0087others(6): Show | a0001c0001t0060g0410 a0001c0001t0061g0196 a0001c0001t0087g0376 others(10): Show |
13 | 416 | 0.0313 | -7 | c.609 others(24): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 8023588 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01081.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(10): Show | a0001c0001t0001g0349 a0001c0001t0004g0232 a0001c0001t0004g0273 others(39): Show |
42 | 416 | 0.1010 | -7 | c.696 others(24): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLE1_chr9_128499719_128547288 | 128514026 | AAAAAAAG | A | intron_variant | MODIFIER | HG00673.hp2 HG02071.hp2 HG02080.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 a0002c0002t0002g0164 a0002c0002t0002g0174 others(10): Show |
13 | 360 | 0.0361 | -7 | c.322 others(24): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLE1_chr9_128499719_128547288 | 128515490 | CTTATTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(162): Show |
a0002a0006a0007others(1): Show | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0021 others(156): Show |
165 | 360 | 0.4583 | -7 | c.322 others(20): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74540040 | ATATATAT | A | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0023 | a0001c0003t0010g0075 a0001c0003t0023g0325 a0001c0003t0023g0327 |
3 | 342 | 0.0088 | -7 | c.439 others(24): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74546837 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01109.hp2 others(17): Show |
a0001a0004 | a0001c0003a0001c0004a0004c0010 | a0001c0003t0003a0001c0003t0010a0001c0003t0054others(2): Show | a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 others(17): Show |
20 | 342 | 0.0585 | -7 | c.439 others(26): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLI2_chr2_120730868_120997653 | 120896665 | ACCCACCC | A | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 HG03579.hp2 |
a0001a0002 | a0001c0007a0001c0026a0002c0004 | a0001c0007t0007a0001c0026t0020a0002c0004t0009 | a0001c0007t0007g0153 a0001c0026t0020g0151 a0002c0004t0009g0003 |
3 | 160 | 0.0188 | -7 | c.149 others(26): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41968706 | AAAGAAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0008g0091 others(4): Show |
7 | 158 | 0.0443 | -7 | c.210 others(24): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | |||||||
GLIPR1L1_chr12_75329670_75375560 | 75358898 | AATTATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01358.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0005 a0001c0001t0002g0062 a0001c0001t0002g0063 others(9): Show |
19 | 370 | 0.0514 | -7 | c.522 others(24): Show |
GLIPR1L1 | ENSG00000173401.10 | transcript | ENST00000378695.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLIPR2_chr9_36131733_36168906 | 36152696 | GCCGAGAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(46): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0008a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0293 others(37): Show |
49 | 420 | 0.1167 | -7 | c.304 others(24): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLIPR2_chr9_36131733_36168906 | 36154051 | CATATTAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(142): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0016 others(116): Show |
145 | 420 | 0.3452 | -7 | c.304 others(24): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLIPR2_chr9_36131733_36168906 | 36156385 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(66): Show |
a0001a0003a0004 | a0001c0001a0003c0008a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0053 others(54): Show |
69 | 420 | 0.1643 | -7 | c.304 others(24): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4324294 | CCAGGCCT | C | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0047 a0001c0001t0013g0067 a0001c0001t0013g0201 |
3 | 395 | 0.0076 | -7 | c.-66 others(24): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3823610 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01099.hp1 others(30): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0019a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0138 others(30): Show |
33 | 188 | 0.1755 | -7 | c.*46 others(18): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 516 | chr9 | TogoVar |