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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132364346 | A | ACATCTAC others(1862): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 4 | 0.2500 | 1869 | c.129 others(1888): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1862): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0103 |
2 | 4 | 0.5000 | 1869 | c.340 others(1886): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1862): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01975.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 a0001c0001t0005g0238 a0001c0001t0005g0239 others(3): Show |
6 | 8 | 0.7500 | 1869 | c.340 others(1886): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1862): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01361.hp2 NA18950.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0003t0001g0243 others(1): Show |
4 | 6 | 0.6667 | 1869 | c.340 others(1886): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(1862): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0027 | a0002c0027t0005 | a0002c0027t0005g0131 | 1 | 156 | 0.0064 | 1869 | c.358 others(1886): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0029 | 1 | 143 | 0.0070 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0168 | 1 | 143 | 0.0070 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001a0005a0007 | a0001c0001a0001c0008a0005c0007others(1): Show | a0001c0001t0002a0001c0008t0003a0005c0007t0002others(2): Show | a0001c0001t0002g0140 a0001c0008t0003g0048 a0005c0007t0002g0105 others(3): Show |
6 | 148 | 0.0405 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0184 | 1 | 143 | 0.0070 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0011others(9): Show | a0001c0001t0001g0197 a0002c0002t0001g0125 a0002c0002t0011g0024 others(22): Show |
25 | 167 | 0.1497 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1862): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0110 | 1 | 143 | 0.0070 | 1869 | c.150 others(1890): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415399 | G | GCCTGGTC others(1863): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0001 | 2 | 246 | 0.0081 | 1870 | c.441 others(1887): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1863): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0032 | 1 | 2 | 0.5000 | 1870 | c.-52 others(1891): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1863): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 125 | 0.0080 | 1870 | c.236 others(1889): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1863): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0093 | a0001c0003t0093g0287 | 1 | 5 | 0.2000 | 1870 | c.297 others(1887): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1863): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0117 | 1 | 3 | 0.3333 | 1870 | c.340 others(1887): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(1863): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 | 1 | 295 | 0.0034 | 1870 | c.-5+ others(1885): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439072 | C | CAGAGACA others(1863): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03041.hp1 |
a0002a0012 | a0002c0017a0012c0103 | a0002c0017t0068a0002c0017t0072a0012c0103t0054 | a0002c0017t0068g0146 a0002c0017t0072g0147 a0012c0103t0054g0006 |
3 | 176 | 0.0170 | 1870 | c.816 others(1887): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1863): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0020 | 1 | 210 | 0.0048 | 1870 | c.*22 others(1881): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133748 | T | TTCTCTCC others(1863): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0030 | 1 | 109 | 0.0092 | 1870 | c.*23 others(1881): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2036 | chr19 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1863): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1870 | c.-20 others(1881): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1863): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0310 a0006c0005t0001g0311 |
2 | 127 | 0.0157 | 1870 | c.45- others(1885): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1863): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0020 | a0020c0033 | a0020c0033t0001 | a0020c0033t0001g0173 | 1 | 126 | 0.0079 | 1870 | c.45- others(1885): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(1863): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0253 | 1 | 37 | 0.0270 | 1870 | c.327 others(1887): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
USP18_chr22_18145170_18182397 | 18177751 | C | CTCAGCTG others(1863): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 374 | 0.0027 | 1870 | c.*93 others(1879): Show |
USP18 | ENSG00000184979.11 | transcript | ENST00000215794.8 | protein_coding | 355 | chr22 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1863): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01243.hp2 others(25): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0003a0002c0009others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(15): Show | a0002c0002t0001g0161 a0002c0002t0002g0133 a0002c0002t0002g0188 others(25): Show |
28 | 170 | 0.1647 | 1870 | c.150 others(1891): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1863): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0185 | 1 | 143 | 0.0070 | 1870 | c.150 others(1891): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107723537 | G | GCTCAGTG others(1863): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0143 a0003c0004t0001g0160 |
2 | 144 | 0.0139 | 1870 | c.150 others(1891): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1863): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0142 | 1 | 21 | 0.0476 | 1870 | c.127 others(1887): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049745 | A | ACCCACCA others(1864): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0011 | a0011c0020 | a0011c0020t0002 | a0011c0020t0002g0020 | 1 | 15 | 0.0667 | 1871 | c.255 others(1888): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1864): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0028 | a0028c0017 | a0028c0017t0002 | a0028c0017t0002g0007 | 1 | 204 | 0.0049 | 1871 | c.106 others(1890): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97192916 | G | GAGTTAAT others(1864): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp2 HG03834.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0181 a0004c0009t0002g0182 a0004c0009t0002g0183 others(2): Show |
5 | 199 | 0.0251 | 1871 | c.237 others(1886): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 37/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97192916 | G | GAGTTAAT others(1864): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18951.hp2 NA18965.hp1 others(7): Show |
a0004 | a0004c0004a0004c0017 | a0004c0004t0002a0004c0017t0002 | a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 others(6): Show |
10 | 204 | 0.0490 | 1871 | c.237 others(1886): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 37/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1864): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0033 | 1 | 2 | 0.5000 | 1871 | c.-52 others(1892): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1864): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 30 | 0.0333 | 1871 | c.445 others(1886): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(1864): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0143 | 1 | 192 | 0.0052 | 1871 | c.724 others(1890): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323329 | G | GAATATAT others(1864): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 287 | 0.0035 | 1871 | c.-17 others(1882): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1640 | chr21 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG02027.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0106 others(13): Show |
16 | 18 | 0.8889 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 3 | 0.3333 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 3 | 0.3333 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 3 | 0.3333 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02083.hp1 HG02451.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0118 others(18): Show |
21 | 23 | 0.9130 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1864): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 3 | 0.3333 | 1871 | c.340 others(1888): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(1864): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 |
a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0132 a0001c0010t0006g0133 |
2 | 157 | 0.0127 | 1871 | c.358 others(1888): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393238 | C | CTTCTCTC others(1864): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0106 | 1 | 151 | 0.0066 | 1871 | c.107 others(1890): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1864): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0020 | 2 | 211 | 0.0095 | 1871 | c.*22 others(1882): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1864): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0067 | 1 | 94 | 0.0106 | 1871 | c.206 others(1890): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TEX19_chr17_82354247_82368775 | 82361440 | T | TTTCCCTC others(1864): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 372 | 0.0027 | 1871 | c.-27 others(1888): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1865): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0225 others(5): Show |
8 | 47 | 0.1702 | 1872 | c.179 others(1893): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1865): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0174 | 1 | 76 | 0.0132 | 1872 | c.955 others(1889): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |