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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GDF6_chr8_96137333_96165806 | 96146707 | C | CACACAGA others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03209.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0065a0001c0001t0071 | a0001c0001t0024g0152 a0001c0001t0024g0154 a0001c0001t0065g0255 others(1): Show |
4 | 368 | 0.0109 | 22 | c.407 others(39): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0252 | 1 | 368 | 0.0027 | 22 | c.-34 others(33): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTCTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 1 | 368 | 0.0027 | 22 | c.-34 others(33): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTCTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0010 | a0001c0001t0003a0001c0001t0016a0001c0001t0040others(2): Show | a0001c0001t0003g0016 a0001c0001t0016g0098 a0001c0001t0040g0087 others(2): Show |
6 | 368 | 0.0163 | 22 | c.-34 others(33): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDF6_chr8_96137333_96165806 | 96164182 | C | CTGTGTGT others(15): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0003 | a0002c0003t0027 | a0002c0003t0027g0046 | 1 | 368 | 0.0027 | 22 | c.-34 others(33): Show |
GDF6 | ENSG00000156466.11 | transcript | ENST00000287020.7 | protein_coding | 3377 | chr8 | TogoVar | |||||||
GDI1_chrX_154432154_154448467 | 154448072 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 283 | 0.0035 | 22 | c.*54 others(33): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 4606 | chrX | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59255762 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0079 | 1 | 312 | 0.0032 | 22 | c.368 others(39): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GDPD3_chr16_30099810_30118537 | 30110860 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | 390 | 0.0051 | 22 | c.707 others(37): Show |
GDPD3 | ENSG00000102886.15 | transcript | ENST00000406256.8 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
GDPD5_chr11_75429640_75530941 | 75512281 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02071.hp2 HG02257.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(9): Show |
12 | 322 | 0.0373 | 22 | c.-14 others(43): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 424 | 0.0024 | 22 | c.486 others(39): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 a0001c0001t0001g0307 |
2 | 424 | 0.0047 | 22 | c.486 others(39): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 424 | 0.0024 | 22 | c.486 others(39): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GFER_chr16_1979193_1992749 | 1984531 | C | CGCCCAGG others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 426 | 0.0024 | 22 | c.258 others(35): Show |
GFER | ENSG00000127554.13 | transcript | ENST00000248114.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13390780 | A | AGAAAGGA others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0026a0001c0001t0098 | a0001c0001t0010g0214 a0001c0001t0026g0181 a0001c0001t0098g0114 |
3 | 230 | 0.0130 | 22 | c.254 others(41): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13460691 | G | GGATAAAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01070.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 others(28): Show |
31 | 230 | 0.1348 | 22 | c.253 others(41): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0352 | 1 | 412 | 0.0024 | 22 | c.*41 others(33): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0188 | 1 | 412 | 0.0024 | 22 | c.*41 others(33): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116145148 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0050 | a0001c0005t0050g0176 | 1 | 214 | 0.0047 | 22 | c.434 others(41): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116205596 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0139 | 1 | 214 | 0.0047 | 22 | c.433 others(39): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21694071 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 322 | 0.0031 | 22 | c.127 others(39): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21694075 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19000.hp1 NA19074.hp1 others(1): Show |
a0002 | a0002c0002a0002c0017 | a0002c0002t0002a0002c0002t0003a0002c0017t0002 | a0002c0002t0002g0098 a0002c0002t0002g0147 a0002c0002t0003g0246 others(1): Show |
4 | 322 | 0.0124 | 22 | c.127 others(39): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21714246 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0006t0002 | a0001c0001t0019g0025 a0001c0006t0002g0028 |
2 | 322 | 0.0062 | 22 | c.795 others(39): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21750107 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01361.hp1 HG02738.hp1 others(9): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | 322 | 0.0373 | 22 | c.794 others(37): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFUS_chr8_143607618_143622549 | 143619147 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0003t0001g0016 a0001c0004t0001g0021 |
6 | 415 | 0.0145 | 22 | c.-16 others(33): Show |
GFUS | ENSG00000104522.16 | transcript | ENST00000425753.7 | protein_coding | 1599 | chr8 | TogoVar | |||||||
GGA2_chr16_23458542_23515494 | 23467387 | A | AACACACA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02647.hp1 others(7): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0008 | a0002c0002t0016a0002c0002t0025a0002c0002t0032others(3): Show | a0002c0002t0016g0195 a0002c0002t0016g0220 a0002c0002t0016g0229 others(7): Show |
10 | 254 | 0.0394 | 22 | c.*18 others(31): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 17/17 | 202 | chr16 | TogoVar | ||||||
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 364 | 0.0028 | 22 | c.41- others(37): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
GGCT_chr7_30491621_30509829 | 30496315 | T | TACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0144 others(7): Show |
14 | 444 | 0.0315 | 22 | c.*77 others(31): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 305 | chr7 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 a0001c0002t0003g0032 |
2 | 357 | 0.0056 | 22 | c.93+ others(37): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575613 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 357 | 0.0028 | 22 | c.642 others(39): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0240 | 1 | 357 | 0.0028 | 22 | c.642 others(39): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 357 | 0.0028 | 22 | c.642 others(39): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGN_chr19_38379267_38393034 | 38380723 | T | TGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18966.hp2 NA18967.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 5 | 392 | 0.0128 | 22 | c.*36 others(33): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 3543 | chr19 | TogoVar | |||||||
GGN_chr19_38379267_38393034 | 38380723 | T | TGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0033 | 1 | 392 | 0.0026 | 22 | c.*36 others(33): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 3543 | chr19 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34855789 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02273.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014 | a0001c0001t0001g0251 a0001c0001t0008g0044 a0001c0001t0008g0236 others(2): Show |
6 | 354 | 0.0170 | 22 | c.110 others(39): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34855814 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG01993.hp1 others(26): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0204 a0001c0001t0002g0016 others(18): Show |
29 | 354 | 0.0819 | 22 | c.110 others(39): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 8/14 | chr20 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42650578 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 a0001c0001t0013g0066 |
2 | 210 | 0.0095 | 22 | c.136 others(41): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01106.hp2 others(23): Show |
a0001a0002 | a0001c0005a0002c0001a0002c0021 | a0001c0005t0001a0002c0001t0002a0002c0001t0004others(3): Show | a0001c0005t0001g0194 a0001c0005t0001g0195 a0002c0001t0002g0043 others(23): Show |
26 | 376 | 0.0692 | 22 | c.-44 others(39): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0025 | a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0025g0242 |
3 | 376 | 0.0080 | 22 | c.-44 others(39): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232781287 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0144 | 1 | 376 | 0.0027 | 22 | c.533 others(39): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836304 | A | ATATATAA others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0179 | 1 | 376 | 0.0027 | 22 | c.276 others(41): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103117581 | T | TATATACA others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02970.hp2 HG03453.hp1 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0009a0005c0007t0002 | a0002c0002t0009g0148 a0002c0002t0009g0149 a0005c0007t0002g0147 |
3 | 322 | 0.0093 | 22 | c.-8+ others(37): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562316 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 380 | 0.0026 | 22 | c.-40 others(33): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4058 | chr6 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0091 | 1 | 470 | 0.0021 | 22 | c.205 others(39): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685678 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 |
a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0060 a0001c0006t0022g0061 |
2 | 470 | 0.0043 | 22 | c.205 others(39): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS2_chr16_85671198_85693954 | 85685685 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0003g0012 a0001c0001t0003g0109 a0001c0001t0003g0110 others(4): Show |
10 | 470 | 0.0213 | 22 | c.205 others(39): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 NA18952.hp1 NA18960.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0103 others(1): Show |
9 | 426 | 0.0211 | 22 | c.*47 others(33): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0035 | 2 | 444 | 0.0045 | 22 | c.-30 others(39): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0296 | 1 | 444 | 0.0023 | 22 | c.-30 others(39): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPC1_chr19_14472762_14501127 | 14485702 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01261.hp1 others(3): Show |
a0001a0008 | a0001c0002a0008c0026 | a0001c0002t0003a0001c0002t0006a0001c0002t0045others(1): Show | a0001c0002t0003g0034 a0001c0002t0003g0294 a0001c0002t0006g0329 others(2): Show |
6 | 444 | 0.0135 | 22 | c.-30 others(39): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
GIPR_chr19_45663221_45688722 | 45671173 | G | GGCGGAGA others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(8): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0019 | a0001c0001t0002a0001c0003t0005a0001c0003t0010others(4): Show | a0001c0001t0002g0129 a0001c0003t0005g0233 a0001c0003t0010g0232 others(7): Show |
11 | 416 | 0.0264 | 22 | c.173 others(35): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |