| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(3670): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0011 | a0011c0002 | a0011c0002t0001 | a0011c0002t0001g0019 | 1 | 174 | 0.0058 | 3677 | c.193 others(3696): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3671): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0187 | 1 | 236 | 0.0042 | 3678 | c.294 others(3695): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132241724 | C | CTCCCTAT others(3671): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01978.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0005a0001c0001t0001g0043a0001c0001t0001g0096others(1): Show | 4 | 183 | 0.0219 | 3678 | c.107 others(3697): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3671): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0182 | 1 | 212 | 0.0047 | 3678 | c.111 others(3695): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421231 | A | AACACACA others(3672): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0275 | 1 | 432 | 0.0023 | 3679 | c.413 others(3696): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3672): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 316 | 0.0032 | 3679 | c.44- others(3692): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3672): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 298 | 0.0034 | 3679 | c.126 others(3696): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(3672): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0144 | 1 | 308 | 0.0033 | 3679 | c.157 others(3696): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3673): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 80 | 0.0125 | 3680 | c.125 others(3697): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| SFSWAP_chr12_131706090_131804738 | 131803529 | T | TAAAAAGA others(3673): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 318 | 0.0031 | 3680 | c.*40 others(3691): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 3792 | chr12 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3673): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01952.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0147a0001c0002t0003g0148 | 2 | 212 | 0.0094 | 3680 | c.111 others(3697): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917219 | C | CGAGGCTG others(3673): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0018 | 1 | 344 | 0.0029 | 3680 | c.218 others(3697): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3674): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 282 | 0.0036 | 3681 | c.299 others(3696): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(3674): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0031 | 1 | 62 | 0.0161 | 3681 | c.*13 others(3694): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | ||||||
| INS_chr11_2154779_2166209 | 2161749 | G | CACCCCTG others(3675): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 376 | 0.0027 | 3682 | c.-59 others(3691): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 540 | chr11 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3675): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 160 | 0.0063 | 3682 | c.225 others(3703): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3675): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0121 | 1 | 160 | 0.0063 | 3682 | c.225 others(3703): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3675): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02056.hp2 HG02074.hp1 others(9): Show |
a0001a0003a0010 | a0001c0001a0001c0048a0001c0054others(5): Show | a0001c0001t0002a0001c0001t0064a0001c0048t0017others(7): Show | a0001c0001t0002g0046a0001c0001t0002g0062a0001c0001t0064g0042others(9): Show | 12 | 160 | 0.0750 | 3682 | c.225 others(3703): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3675): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0138 | 1 | 160 | 0.0063 | 3682 | c.225 others(3703): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TH_chr11_2158929_2176815 | 2161749 | G | CACCCCTG others(3675): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 388 | 0.0026 | 3682 | c.*24 others(3693): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2180 | chr11 | TogoVar | ||||||
| SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3676): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0220 | 1 | 250 | 0.0040 | 3683 | c.-21 others(3700): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3678): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 342 | 0.0029 | 3685 | c.366 others(3702): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3678): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0132 | 1 | 292 | 0.0034 | 3685 | c.218 others(3700): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(3679): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 344 | 0.0029 | 3686 | c.127 others(3703): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3679): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0047 | a0047c0137 | a0047c0137t0013 | a0047c0137t0013g0001 | 1 | 282 | 0.0036 | 3686 | c.299 others(3701): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3680): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0175 | 1 | 282 | 0.0036 | 3687 | c.299 others(3702): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126948051 | G | GTGGTGGT others(3681): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0071 | a0004c0071t0003 | a0004c0071t0003g0114 | 1 | 136 | 0.0074 | 3688 | c.47- others(3705): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3681): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0018 | a0018c0013 | a0018c0013t0004 | a0018c0013t0004g0191 | 1 | 292 | 0.0034 | 3688 | c.218 others(3703): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3681): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0045 | 1 | 212 | 0.0047 | 3688 | c.111 others(3705): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| FAM120B_chr6_170301758_170412067 | 170399483 | A | AGAAAGGT others(3682): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 289 | 0.0035 | 3689 | c.269 others(3708): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(3683): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 416 | 0.0024 | 3690 | c.522 others(3705): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(3683): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 274 | 0.0037 | 3690 | c.224 others(3709): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(3683): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0077 | a0001c0002t0077g0040 | 1 | 302 | 0.0033 | 3690 | c.*39 others(3701): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7863975 | A | ATTCCCAA others(3685): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0295 | 1 | 318 | 0.0031 | 3692 | c.225 others(3709): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3685): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18982.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0089a0001c0001t0001g0096 | 3 | 175 | 0.0171 | 3692 | c.164 others(3711): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3685): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0023 | 1 | 298 | 0.0034 | 3692 | c.126 others(3709): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3685): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0033 | 1 | 56 | 0.0179 | 3692 | c.209 others(3707): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3685): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01978.hp2 HG01993.hp2 others(26): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0003a0001c0002t0001g0083a0001c0002t0001g0087others(25): Show | 29 | 212 | 0.1368 | 3692 | c.111 others(3709): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3685): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02027.hp2 NA18940.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0093a0001c0002t0001g0167 | 4 | 212 | 0.0189 | 3692 | c.111 others(3709): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3685): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 212 | 0.0047 | 3692 | c.111 others(3709): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3687): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0200 | 1 | 298 | 0.0034 | 3694 | c.955 others(3711): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(3688): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 342 | 0.0029 | 3695 | c.366 others(3712): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3688): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0018 | a0018c0013 | a0018c0013t0020 | a0018c0013t0020g0289 | 1 | 292 | 0.0034 | 3695 | c.218 others(3710): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133112018 | G | GGCACCTC others(3689): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0256 | 1 | 368 | 0.0027 | 3696 | c.401 others(3713): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(3689): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 210 | 0.0048 | 3696 | c.273 others(3713): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46294620 | A | ACAGCCAC others(3689): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0379 | 1 | 404 | 0.0025 | 3696 | c.340 others(3713): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195788228 | T | TGTGACCT others(3690): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0112 | a0112c0046 | a0112c0046t0001 | a0112c0046t0001g0175 | 1 | 249 | 0.0040 | 3697 | c.335 others(3706): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3463/16756 | 3351/16239 | 1117/5412 | chr3 | TogoVar | ||
| LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3691): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0046 | a0046c0105 | a0046c0105t0001 | a0046c0105t0001g0140 | 1 | 186 | 0.0054 | 3698 | c.723 others(3715): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3691): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18999.hp1 NA19009.hp2 others(2): Show |
a0001a0004 | a0001c0003a0004c0010 | a0001c0003t0002a0004c0010t0002 | a0001c0003t0002g0069a0001c0003t0002g0074a0001c0003t0002g0075others(2): Show | 5 | 212 | 0.0236 | 3698 | c.111 others(3715): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693612 | T | TCCACCAC others(3692): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 60 | 0.0167 | 3699 | c.299 others(3716): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |