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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1729): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0089 | 1 | 95 | 0.0105 | 1736 | c.*11 others(1757): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514238 | C | CCCTTCCT others(1729): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0005 | a0005c0004 | a0005c0004t0006 | a0005c0004t0006g0230 | 1 | 230 | 0.0043 | 1736 | c.-84 others(1753): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1729): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0205 | 1 | 5 | 0.2000 | 1736 | c.297 others(1753): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 27 | 0.0370 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02273.hp2 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0175 a0001c0001t0001g0199 others(1): Show |
4 | 30 | 0.1333 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG01192.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(6): Show |
9 | 35 | 0.2571 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show |
4 | 30 | 0.1333 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 27 | 0.0370 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02135.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0182 others(3): Show |
6 | 32 | 0.1875 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0196 a0001c0004t0001g0195 |
2 | 28 | 0.0714 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 27 | 0.0370 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 27 | 0.0370 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1729): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 27 | 0.0370 | 1736 | c.147 others(1755): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1729): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 154 | 0.0065 | 1736 | c.360 others(1755): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344647 | A | AGGGGATT others(1729): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 333 | 0.0030 | 1736 | c.4-1 others(1749): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCID2_chr13_113172536_113213669 | 113176508 | C | CCCAGCAC others(1729): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025 | 1 | 176 | 0.0057 | 1736 | c.*16 others(1747): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 1027 | chr13 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1729): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0061 | 1 | 34 | 0.0294 | 1736 | c.299 others(1751): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113176508 | C | CCCAGCAC others(1729): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0216 | 1 | 162 | 0.0062 | 1736 | c.*44 others(1747): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4123 | chr13 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273576 | G | GTCAGGGA others(1729): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0103 | 1 | 59 | 0.0169 | 1736 | c.438 others(1753): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105239244 | G | GCAGCCCC others(1730): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 42 | 0.0238 | 1737 | c.694 others(1754): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1730): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0020 | a0020c0034 | a0020c0034t0049 | a0020c0034t0049g0076 | 1 | 24 | 0.0417 | 1737 | c.366 others(1756): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1730): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 192 | 0.0052 | 1737 | c.292 others(1756): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1730): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 192 | 0.0052 | 1737 | c.292 others(1756): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1730): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 192 | 0.0052 | 1737 | c.292 others(1756): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1730): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0186 a0001c0001t0004g0194 |
2 | 193 | 0.0104 | 1737 | c.292 others(1756): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1730): Show |
intron_variant | MODIFIER | NA19067.hp1 NA19080.hp2 NA19088.hp1 |
a0001 | a0001c0002a0001c0030 | a0001c0002t0001a0001c0002t0070a0001c0030t0001 | a0001c0002t0001g0125 a0001c0002t0070g0247 a0001c0030t0001g0257 |
3 | 7 | 0.4286 | 1737 | c.297 others(1754): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 a0001c0001t0004g0211 |
2 | 28 | 0.0714 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0167 others(2): Show |
5 | 31 | 0.1613 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0001c0002t0003a0002c0006t0003 | a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0070 others(5): Show |
8 | 34 | 0.2353 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18942.hp2 NA18950.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 |
3 | 29 | 0.1034 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67233532 | A | ATCCCAGC others(1730): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0117 | 1 | 27 | 0.0370 | 1737 | c.147 others(1756): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549_chr7_138826381_138986389 | 138959680 | T | TAGAAGAT others(1730): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0057 | a0002c0057t0037 | a0002c0057t0037g0096 | 1 | 202 | 0.0050 | 1737 | c.187 others(1756): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1730): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 3 | 0.3333 | 1737 | c.-12 others(1756): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(1730): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0080 | 1 | 154 | 0.0065 | 1737 | c.360 others(1756): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(1730): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 154 | 0.0065 | 1737 | c.360 others(1756): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1730): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0048 | 1 | 82 | 0.0122 | 1737 | c.147 others(1754): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77290985 | C | CGGGTAAA others(1730): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0085 | 1 | 158 | 0.0063 | 1737 | c.389 others(1758): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(1730): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0191 | 1 | 304 | 0.0033 | 1737 | c.101 others(1754): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(1730): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 278 | 0.0036 | 1737 | c.101 others(1754): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1730): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0149 | 1 | 90 | 0.0111 | 1737 | c.272 others(1756): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043557 | A | AGGACTTC others(1730): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0214 a0001c0001t0001g0215 others(5): Show |
8 | 338 | 0.0237 | 1737 | c.-40 others(1748): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3989 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043578 | G | GCCAGAGG others(1730): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 347 | 0.0029 | 1737 | c.-40 others(1748): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4010 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23043578 | G | GCCAGAGG others(1730): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 347 | 0.0029 | 1737 | c.-40 others(1748): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4010 | chr15 | TogoVar |