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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CUX2_chr12_111029165_111355554 | 111325930 | T | TTGGGGGA others(1802): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 1 | 65 | 0.0154 | 1809 | c.292 others(1828): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1802): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0003t0001g0098 |
2 | 46 | 0.0435 | 1809 | c.724 others(1828): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1802): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0030 | 1 | 3 | 0.3333 | 1809 | c.219 others(1828): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6534386 | A | AAGAATCA others(1802): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0332 | 1 | 339 | 0.0029 | 1809 | c.291 others(1826): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 24/24 | chr9 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344530 | C | CTGTGTGA others(1802): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 384 | 0.0026 | 1809 | c.*70 others(1820): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4936 | chr16 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322497 | C | CAAAAAAA others(1802): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0011 | a0011c0027 | a0011c0027t0005 | a0011c0027t0005g0101 | 1 | 135 | 0.0074 | 1809 | c.-37 others(1820): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3702 | chrX | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861913 | T | TGGATCTG others(1802): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0088 | 1 | 96 | 0.0104 | 1809 | c.271 others(1830): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1802): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0173 |
2 | 6 | 0.3333 | 1809 | c.189 others(1828): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RCAN2_chr6_46215736_46496449 | 46398657 | T | TTCTGGCT others(1802): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0051 | 1 | 158 | 0.0063 | 1809 | c.225 others(1828): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 257885 | G | GTCCCTAG others(1802): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 73 | 0.0137 | 1809 | c.439 others(1828): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976981 | T | TGAGGCTG others(1802): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0070 | 1 | 107 | 0.0093 | 1809 | c.199 others(1828): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SULT6B1_chr2_37162820_37193670 | 37166500 | C | CCCTCCCT others(1802): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 279 | 0.0036 | 1809 | c.*14 others(1820): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1319 | chr2 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(1803): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 318 | 0.0031 | 1810 | c.127 others(1827): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1803): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 76 | 0.0132 | 1810 | c.955 others(1827): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23275922 | A | AAGTTTTC others(1803): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 52 | 0.0192 | 1810 | c.172 others(1827): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DNAJC2_chr7_103307289_103349767 | 103320764 | T | TATATATA others(1803): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 402 | 0.0025 | 1810 | c.108 others(1827): Show |
DNAJC2 | ENSG00000105821.15 | transcript | ENST00000379263.8 | protein_coding | 10/16 | chr7 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1803): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 75 | 0.0133 | 1810 | c.*69 others(1821): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690475 | T | TATAAATA others(1803): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0137 | 1 | 298 | 0.0034 | 1810 | c.358 others(1827): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1803): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 65 | 0.0154 | 1810 | c.4-1 others(1823): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1346222 | C | CCCCTGTT others(1803): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 |
a0003a0009 | a0003c0008a0009c0012 | a0003c0008t0002a0009c0012t0001 | a0003c0008t0002g0072 a0009c0012t0001g0066 |
2 | 153 | 0.0131 | 1810 | c.148 others(1831): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670423 | T | TCCCTGCT others(1803): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0323 | 1 | 391 | 0.0026 | 1810 | c.129 others(1827): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1804): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 | 1 | 76 | 0.0132 | 1811 | c.955 others(1828): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1804): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0003 a0001c0001t0004g0003 |
3 | 32 | 0.0938 | 1811 | c.445 others(1826): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1804): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 30 | 0.0333 | 1811 | c.445 others(1826): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1804): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0093 | 1 | 117 | 0.0085 | 1811 | c.183 others(1830): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1804): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0276 | 1 | 73 | 0.0137 | 1811 | c.162 others(1830): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1804): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0022a0002c0002t0002 | a0001c0001t0022g0053 a0002c0002t0002g0052 |
2 | 4 | 0.5000 | 1811 | c.-12 others(1830): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1804): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 6 | 0.1667 | 1811 | c.-8+ others(1824): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(1804): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 167 | 0.0060 | 1811 | c.147 others(1830): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693462 | T | TTCACCAC others(1804): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 15 | 0.0667 | 1811 | c.-33 others(1822): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3189 | chr20 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1804): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0046 | 1 | 149 | 0.0067 | 1811 | c.129 others(1828): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1805): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0177 | 1 | 76 | 0.0132 | 1812 | c.955 others(1829): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539665 | T | TTTCATAA others(1805): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0035 | a0003c0035t0025 | a0003c0035t0025g0077 | 1 | 63 | 0.0159 | 1812 | c.139 others(1833): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1805): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0096 | 1 | 9 | 0.1111 | 1812 | c.565 others(1829): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1805): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0077 | 1 | 3 | 0.3333 | 1812 | c.219 others(1831): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1805): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0045 | 1 | 3 | 0.3333 | 1812 | c.219 others(1831): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1805): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0068 others(19): Show |
22 | 24 | 0.9167 | 1812 | c.219 others(1831): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435244 | A | AAGGAAGG others(1805): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0039 | 1 | 81 | 0.0123 | 1812 | c.-16 others(1833): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(1805): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0081 | 1 | 78 | 0.0128 | 1812 | c.488 others(1827): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(1805): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0097 | 1 | 78 | 0.0128 | 1812 | c.488 others(1827): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1805): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0051 | 1 | 5 | 0.2000 | 1812 | c.*15 others(1823): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCTCCT others(1805): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 228 | 0.0044 | 1812 | c.306 others(1831): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1805): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1812 | c.-20 others(1823): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(1805): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0186 | 1 | 25 | 0.0400 | 1812 | c.483 others(1827): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1806): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0180 | 1 | 76 | 0.0132 | 1813 | c.955 others(1830): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411302 | T | TCACTGCT others(1806): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0026 | 1 | 171 | 0.0058 | 1813 | c.-23 others(1824): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2156 | chr19 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(1806): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0008a0001c0013a0001c0048 | a0001c0008t0001a0001c0013t0001a0001c0048t0001 | a0001c0008t0001g0159 a0001c0008t0001g0171 a0001c0013t0001g0003 others(1): Show |
6 | 230 | 0.0261 | 1813 | c.373 others(1830): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1806): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 57 | 0.0175 | 1813 | c.*31 others(1824): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619009 | C | CGCTCCCC others(1806): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 165 | 0.0061 | 1813 | c.-10 others(1832): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1806): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0101 | 1 | 3 | 0.3333 | 1813 | c.219 others(1832): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar |