| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SECTM1_chr17_82316024_82338766 | 82318737 | ACGTGTGT others(632): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006 | 3 | 374 | 0.0080 | -639 | c.*27 others(11): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 2286 | chr17 | TogoVar | ||||||
| TUBD1_chr17_59854479_59897943 | 59868698 | GTGGTGGC others(632): Show |
G | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0130 | 1 | 360 | 0.0028 | -639 | c.935 others(17): Show |
TUBD1 | ENSG00000108423.15 | transcript | ENST00000325752.8 | protein_coding | 6/8 | chr17 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(631): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 106 | 0.0094 | -638 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15931087 | AAGGGAGT others(631): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0016 | a0003c0016t0025 | a0003c0016t0025g0074 | 1 | 386 | 0.0026 | -638 | c.199 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| ECH1_chr19_38810422_38836794 | 38828564 | CTGACCCC others(631): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 420 | 0.0024 | -638 | c.349 others(17): Show |
ECH1 | ENSG00000104823.9 | transcript | ENST00000221418.9 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64173786 | CCTGCAGC others(631): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 223 | 0.0045 | -638 | c.-99 others(17): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287633 | TCTCTCCA others(631): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02698.hp2 NA18612.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0024a0001c0001t0002g0109a0001c0001t0007g0097others(8): Show | 11 | 133 | 0.0827 | -638 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| TMEM63C_chr14_77176798_77264495 | 77182895 | CCTTCAAC others(631): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 322 | 0.0031 | -638 | c.-77 others(17): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ZNF16_chr8_144925358_144955880 | 144946518 | TCTGTGTC others(631): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0099a0001c0001t0001g0100others(3): Show | 8 | 404 | 0.0198 | -638 | c.-9- others(13): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1014305 | ACGCCTCC others(630): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -637 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TENM2_chr5_166974029_168269157 | 167859819 | TGGGAGGT others(630): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02622.hp2 HG02630.hp1 others(1): Show |
a0001a0003a0006 | a0001c0002a0001c0015a0003c0020others(1): Show | a0001c0002t0013a0001c0015t0002a0003c0020t0028others(1): Show | a0001c0002t0013g0041a0001c0015t0002g0051a0003c0020t0028g0013others(1): Show | 4 | 54 | 0.0741 | -637 | c.503 others(19): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ATAD2_chr8_123314850_123401447 | 123314862 | AGGCCAGC others(629): Show |
A | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 278 | 0.0036 | -636 | c.*56 others(11): Show |
ATAD2 | ENSG00000156802.13 | transcript | ENST00000287394.10 | protein_coding | 4987 | chr8 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211792 | TTTACTCT others(629): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0112 | 1 | 148 | 0.0068 | -636 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| FOXP4_chr6_41541381_41607384 | 41604799 | AAGACCAT others(629): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0013 | 1 | 356 | 0.0028 | -636 | c.*58 others(11): Show |
FOXP4 | ENSG00000137166.18 | transcript | ENST00000307972.10 | protein_coding | 2416 | chr6 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21083631 | ATTACCAG others(629): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | -636 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085588 | CGTGGCCC others(629): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03927.hp1 |
a0001a0084 | a0001c0024a0084c0130 | a0001c0024t0002a0084c0130t0001 | a0001c0024t0002g0302a0084c0130t0001g0358 | 2 | 403 | 0.0050 | -636 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2003942 | AGTTCTTT others(629): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0008 | 1 | 104 | 0.0096 | -636 | c.-15 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258739 | TCCGAGCA others(629): Show |
T | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 2 | 266 | 0.0075 | -636 | c.*23 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1658 | chr5 | TogoVar | ||||||
| STK3_chr8_98449633_98830688 | 98743253 | AAAAAAAA others(629): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 170 | 0.0059 | -636 | c.351 others(17): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
| USP18_chr22_18145170_18182397 | 18171402 | GGAGGATT others(629): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 376 | 0.0027 | -636 | c.891 others(16): Show |
USP18 | ENSG00000184979.11 | transcript | ENST00000215794.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| YAF2_chr12_42152104_42243248 | 42227896 | CGCCTCTG others(629): Show |
C | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 374 | 0.0027 | -636 | c.152 others(17): Show |
YAF2 | ENSG00000015153.15 | transcript | ENST00000534854.7 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
| CPNE1_chr20_35621044_35669900 | 35633915 | TGCCACTG others(628): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 NA21309.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0014a0005c0006t0001g0035 | 3 | 272 | 0.0110 | -635 | c.1-1 others(12): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113073899 | GCCCACCG others(628): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0031 | a0003c0031t0021 | a0003c0031t0021g0003 | 1 | 160 | 0.0063 | -635 | c.178 others(19): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 11/18 | chr5 | TogoVar | ||||||
| TMEM71_chr8_132704941_132765582 | 132752702 | CCACTGCA others(628): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0305 | 1 | 378 | 0.0027 | -635 | c.102 others(16): Show |
TMEM71 | ENSG00000165071.15 | transcript | ENST00000677595.1 | protein_coding | 3/9 | chr8 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 48603203 | GGCTCATG others(627): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 104 | 0.0096 | -634 | c.952 others(19): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 9/13 | chr1 | TogoVar | ||||||
| DOCK4_chr7_111721110_112211399 | 112043442 | GTTACAGT others(627): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 106 | 0.0094 | -634 | c.38- others(17): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1121995 | ATCTCTAT others(627): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0028 | 1 | 162 | 0.0062 | -634 | c.156 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAM53A_chr4_1634887_1689313 | 1679484 | GAGACCAG others(627): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0129 | 1 | 350 | 0.0029 | -634 | c.-16 others(19): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960666 | CACAGACT others(627): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA20300.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0053a0001c0004t0001g0054 | 2 | 294 | 0.0068 | -634 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2085544 | CCCACTGT others(627): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0180 | 1 | 403 | 0.0025 | -634 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085708 | CGTGATCT others(627): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0045 | a0045c0208 | a0045c0208t0001 | a0045c0208t0001g0162 | 1 | 403 | 0.0025 | -634 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685656 | CTCCCAGC others(627): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 362 | 0.0028 | -634 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3173826 | CCTCATGG others(627): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -634 | c.-49 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4942 | chr19 | TogoVar | ||||||
| SMO_chr7_129183633_129218545 | 129201247 | ATGTTGGC others(627): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0213 | 2 | 410 | 0.0049 | -634 | c.332 others(17): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| TENM2_chr5_166974029_168269157 | 167859668 | AGCCGCCC others(627): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0020 | 1 | 54 | 0.0185 | -634 | c.503 others(19): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1888032 | AGGGTGAG others(626): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0145 | 1 | 363 | 0.0028 | -633 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CACNB4_chr2_151827771_152104044 | 151942042 | AATGCTAT others(626): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02145.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0140a0001c0001t0004g0078a0001c0001t0004g0128others(27): Show | 30 | 230 | 0.1304 | -633 | c.148 others(19): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805791 | CCTCAGCC others(626): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp1 NA18959.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0202a0003c0003t0001g0230 | 2 | 314 | 0.0064 | -633 | c.*16 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1505 | chr2 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134093003 | CCTTACAT others(626): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(139): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 142 | 390 | 0.3641 | -633 | c.76+ others(17): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805791 | CCTCAGCC others(626): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp2 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0026 | 2 | 319 | 0.0063 | -633 | c.-34 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3401 | chr2 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31511020 | TGTATATC others(626): Show |
T | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 244 | 0.0041 | -633 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| RORB_chr9_74492335_74698177 | 74531817 | AGACTTTT others(626): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 226 | 0.0044 | -633 | c.7+3 others(15): Show |
RORB | ENSG00000198963.11 | transcript | ENST00000376896.8 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
| TAF11L14_chr5_17629460_17640053 | 17639420 | CCTTCATA others(626): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 398 | 0.0025 | -633 | c.*43 others(11): Show |
TAF11L14 | ENSG00000250782.1 | transcript | ENST00000512227.1 | protein_coding | 4368 | chr5 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83003919 | CTCCGCGT others(625): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0084 | 1 | 266 | 0.0038 | -632 | c.459 others(16): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034204 | GTGGGTGG others(625): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 390 | 0.0026 | -632 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DUXA_chr19_57149021_57172485 | 57169034 | ACCCTTTG others(625): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | 446 | 0.0045 | -632 | c.-22 others(11): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1550 | chr19 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675185 | TGAGGACA others(625): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 378 | 0.0027 | -632 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675786 | CGGCGAGG others(625): Show |
C | intron_variant | MODIFIER | HG03927.hp2 NA18980.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0073a0001c0001t0001g0087 | 3 | 378 | 0.0079 | -632 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675855 | GCGCGGCG others(625): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01934.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0041a0001c0001t0001g0042others(7): Show | 10 | 378 | 0.0265 | -632 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 938037 | TAGAGCCC others(625): Show |
T | intron_variant | MODIFIER | NA19012.hp1 NA19074.hp1 |
a0001 | a0001c0002a0001c0029 | a0001c0002t0002a0001c0029t0002 | a0001c0002t0002g0348a0001c0029t0002g0349 | 2 | 434 | 0.0046 | -632 | c.968 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |