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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC24A2_chr9_19502455_19794037 | 19535929 | G | GGAAAGTA others(1825): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0060 | 1 | 184 | 0.0054 | 1832 | c.148 others(1851): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1825): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 277 | 0.0036 | 1832 | c.*40 others(1849): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(1826): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0116 | 1 | 135 | 0.0074 | 1833 | c.318 others(1852): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(1826): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 140 | 0.0071 | 1833 | c.*52 others(1844): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322715 | A | ACGGAATA others(1826): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0033 | 1 | 262 | 0.0038 | 1833 | c.-23 others(1844): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2254 | chr21 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1826): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0290 | 1 | 12 | 0.0833 | 1833 | c.228 others(1850): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237773 | C | CACTACTA others(1826): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 277 | 0.0036 | 1833 | c.-15 others(1844): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1512 | chr14 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(1826): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 248 | 0.0040 | 1833 | c.*35 others(1844): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1826): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1833 | c.-20 others(1844): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1826): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 217 | 0.0046 | 1833 | c.-93 others(1850): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1826): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 277 | 0.0036 | 1833 | c.*40 others(1850): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574480 | A | AGGGGAGG others(1827): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 404 | 0.0025 | 1834 | c.119 others(1853): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTCCCTC others(1827): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0025 | a0025c0038 | a0025c0038t0001 | a0025c0038t0001g0011 | 1 | 229 | 0.0044 | 1834 | c.-84 others(1851): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1827): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 4 | 11 | 0.3636 | 1834 | c.-20 others(1845): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1827): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0096 | a0001c0096t0072 | a0001c0096t0072g0171 | 1 | 4 | 0.2500 | 1834 | c.291 others(1853): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19535929 | G | GGAAAGTA others(1827): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0025 | 1 | 184 | 0.0054 | 1834 | c.148 others(1853): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1828): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0256 | 1 | 204 | 0.0049 | 1835 | c.106 others(1854): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(1828): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0174 | 1 | 197 | 0.0051 | 1835 | c.578 others(1848): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATATTA others(1828): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0348 | 1 | 192 | 0.0052 | 1835 | c.292 others(1854): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79474222 | C | CGTTGTAA others(1828): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0062 | 1 | 18 | 0.0556 | 1835 | c.209 others(1854): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1828): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 120 | 0.0083 | 1835 | c.-93 others(1852): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1828): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 28 | 0.0357 | 1835 | c.113 others(1854): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954443 | G | GAGGGGAG others(1828): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0102 | 1 | 124 | 0.0081 | 1835 | c.-28 others(1854): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(1829): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 23 | 0.0435 | 1836 | c.116 others(1853): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239244 | G | GCAGCCCC others(1829): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 42 | 0.0238 | 1836 | c.694 others(1853): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11283837 | G | GGAGTGGA others(1829): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 191 | 0.0052 | 1836 | c.842 others(1853): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1829): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0038 | 1 | 285 | 0.0035 | 1836 | c.635 others(1855): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1829): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0059 | 1 | 77 | 0.0130 | 1836 | c.635 others(1855): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(1829): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 13 | 0.0769 | 1836 | c.-79 others(1845): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877331 | C | CTCACCGC others(1829): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0148 | 1 | 283 | 0.0035 | 1836 | c.220 others(1855): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876935 | T | TAGGGAGG others(1829): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0017 | a0017c0025 | a0017c0025t0003 | a0017c0025t0003g0129 | 1 | 225 | 0.0044 | 1836 | c.224 others(1855): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 8 | 0.1250 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02735.hp1 NA19055.hp1 |
a0001 | a0001c0004a0001c0022a0001c0023 | a0001c0004t0006a0001c0022t0014a0001c0023t0002 | a0001c0004t0006g0001 a0001c0022t0014g0012 a0001c0023t0002g0055 |
3 | 10 | 0.3000 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0059 | 1 | 8 | 0.1250 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19060.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0052 a0001c0006t0001g0026 |
2 | 9 | 0.2222 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02135.hp1 HG02165.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(12): Show | a0001c0001t0002g0090 a0001c0003t0001g0094 a0001c0003t0002g0077 others(14): Show |
17 | 24 | 0.7083 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1829): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0099 | 1 | 8 | 0.1250 | 1836 | c.271 others(1857): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744181 | T | TCCTGGTT others(1829): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0133 | 1 | 147 | 0.0068 | 1836 | c.655 others(1853): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19535929 | G | GGAAAGTA others(1829): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0166 | 1 | 184 | 0.0054 | 1836 | c.148 others(1855): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(1829): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 12 | 0.0833 | 1836 | c.*22 others(1847): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00639.hp1 others(17): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0040 others(17): Show |
20 | 137 | 0.1460 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347290 | C | CGGACCTG others(1829): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0143 | 1 | 118 | 0.0085 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347322 | C | CTGGACCA others(1829): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0181 | 1 | 161 | 0.0062 | 1836 | c.204 others(1857): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1829): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 317 | 0.0032 | 1836 | c.114 others(1853): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375020 | G | GAGGGAGG others(1830): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 83 | 0.0120 | 1837 | c.784 others(1852): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |