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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD8_chr1_92075345_92189723 | 92113650 | CCTTGTGA others(5807): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011a0001c0003t0003g0012 | 2 | 158 | 0.0127 | -5814 | c.662 others(18): Show |
BTBD8 | ENSG00000189195.15 | transcript | ENST00000636805.2 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1400081 | TGTCCTCC others(5796): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -5803 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135609555 | AAAGAGCT others(5787): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0009others(3): Show | 6 | 342 | 0.0175 | -5794 | c.890 others(17): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962391 | TCCCTCCC others(5786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA19012.hp1 | a0000 | a0000c0004 | a0000c0004t0003 | a0000c0004t0003g0047 | 1 | 360 | 0.0028 | -5793 | c.586 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146436670 | CCTCTAAA others(5743): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 NA19030.hp2 |
a0001a0002 | a0001c0003a0001c0018a0002c0016 | a0001c0003t0013a0001c0018t0002a0002c0016t0004 | a0001c0003t0013g0010a0001c0018t0002g0012a0002c0016t0004g0024 | 3 | 40 | 0.0750 | -5750 | c.97+ others(19): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PCDHB6_chr5_141145057_141158287 | 141151851 | ACAGACCG others(5740): Show |
A | frameshift_variant others(4): Show |
HIGH | NA19030.hp1 NA19240.hp2 |
a0000 | a0000c0020 | a0000c0020t0013 | a0000c0020t0013g0000 | 2 | 464 | 0.0043 | -5747 | c.159 others(10): Show |
p.Thr others(5): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 1/1 | 1796/3231 | 1595/2385 | 532/794 | chr5 | TogoVar | ||
AGBL4_chr1_48527854_50028954 | 49876654 | TCCATATG others(5723): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 104 | 0.0096 | -5730 | c.35- others(17): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199435851 | AGCAAGGA others(5717): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 254 | 0.0039 | -5724 | c.170 others(17): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33665525 | TCTTCCTA others(5715): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 278 | 0.0036 | -5722 | c.645 others(17): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | ||||||
CTHRC1_chr8_103366538_103387989 | 103382062 | AAGGGCTT others(5711): Show |
A | exon_loss_variant others(5): Show |
HIGH | HG04184.hp2 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0070 | 1 | 408 | 0.0025 | -5718 | c.590 others(13): Show |
CTHRC1 | ENSG00000164932.13 | transcript | ENST00000330295.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
FAM90A7_chr8_7551700_7564712 | 7559000 | AAGGTCGC others(5705): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0002 | a0002c0017 | a0002c0017t0000 | a0002c0017t0000g0018 | 1 | 18 | 0.0556 | -5712 | c.-50 others(9): Show |
FAM90A7 | ENSG00000285975.1 | transcript | ENST00000650288.1 | protein_coding | 1/4 | 217/1395 | chr8 | TogoVar | |||||
GEN1_chr2_17749138_17793946 | 17788241 | AGCAAAGC others(5698): Show |
A | splice_region_variant | LOW | NA20129.hp2 | a0007 | a0007c0007 | a0007c0007t0032 | a0007c0007t0032g0107 | 1 | 318 | 0.0031 | -5705 | c.*63 others(12): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 14/14 | chr2 | TogoVar | ||||||
MED27_chr9_131855112_132084867 | 132040001 | GGACATTT others(5696): Show |
G | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 274 | 0.0037 | -5703 | c.349 others(19): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
GTF3C5_chr9_133025997_133063503 | 133032488 | CAAGGGAG others(5691): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0171 | 2 | 380 | 0.0053 | -5698 | c.153 others(17): Show |
GTF3C5 | ENSG00000148308.18 | transcript | ENST00000372097.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HTR2A_chr13_46826546_46902053 | 46883455 | CTGAAATG others(5688): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0017 | 1 | 336 | 0.0030 | -5695 | c.613 others(17): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
NAIP_chr5_70963166_71030339 | 71009536 | CAAAAATT others(5681): Show |
C | exon_loss_variant | HIGH | HG02622.hp2 HG03471.hp1 |
a0004 | a0004c0008 | a0004c0008t0017a0004c0008t0019 | a0004c0008t0017g0012a0004c0008t0019g0013 | 2 | 141 | 0.0142 | -5688 | c.-3- others(16): Show |
NAIP | ENSG00000249437.8 | transcript | ENST00000517649.6 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR2V2_chr5_181142586_181164285 | 181158336 | TGGGGGGG others(5671): Show |
T | splice_region_variant | LOW | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0097 | 1 | 424 | 0.0024 | -5678 | c.*24 others(11): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
ZNF57_chr19_2895928_2923473 | 2898935 | AGCTCACT others(5669): Show |
A | exon_loss_variant others(1): Show |
HIGH | NA19000.hp1 | a0016 | a0016c0020 | a0016c0020t0009 | a0016c0020t0009g0056 | 1 | 398 | 0.0025 | -5676 | c.-21 others(12): Show |
ZNF57 | ENSG00000171970.14 | transcript | ENST00000306908.10 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70729500 | TAAAGATG others(5662): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(75): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0031a0001c0001t0001g0216a0001c0001t0001g0217others(75): Show | 78 | 310 | 0.2516 | -5669 | c.78+ others(17): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103746255 | ATGTATGG others(5660): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0064 | 1 | 172 | 0.0058 | -5667 | c.520 others(19): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57220809 | AGAAAGAT others(5643): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 272 | 0.0037 | -5650 | c.611 others(17): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51629754 | GCCCCTGC others(5640): Show |
G | exon_loss_variant | HIGH | HG03490.hp1 | a0005 | a0005c0057 | a0005c0057t0003 | a0005c0057t0003g0058 | 1 | 414 | 0.0024 | -5647 | c.-50 others(12): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72554544 | CTATTTCT others(5639): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0003c0005t0024 | a0001c0001t0005g0011a0003c0005t0024g0023 | 2 | 182 | 0.0110 | -5646 | c.97+ others(15): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44738391 | AACATGGA others(5639): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 158 | 0.0063 | -5646 | c.995 others(19): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 9/19 | chr12 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65689152 | AAGAAAAT others(5634): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0002 | 1 | 24 | 0.0417 | -5641 | c.-44 others(21): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 1/42 | chr6 | TogoVar | ||||||
KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | chr17 | TogoVar | ||
XPR1_chr1_180627022_180895279 | 180780632 | GTGGTGGG others(5618): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0178a0001c0001t0001g0179others(1): Show | 4 | 330 | 0.0121 | -5625 | c.122 others(17): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ANKRD36C_chr2_95844548_95996824 | 95898205 | GCAAGCAT others(5609): Show |
G | exon_loss_variant | HIGH | HG01255.hp2 HG02572.hp1 HG03669.hp1 |
a0036a0037a0040 | a0036c0040a0037c0039a0040c0044 | a0036c0040t0001a0037c0039t0001a0040c0044t0001 | a0036c0040t0001g0220a0037c0039t0001g0221a0040c0044t0001g0199 | 3 | 298 | 0.0101 | -5616 | c.316 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/88 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95898748 | ATATGGGT others(5609): Show |
A | exon_loss_variant | HIGH | HG02074.hp1 HG02922.hp2 NA19005.hp1 others(1): Show |
a0006a0027 | a0006c0016a0027c0063 | a0006c0016t0001a0027c0063t0001 | a0006c0016t0001g0124a0006c0016t0001g0290a0006c0016t0001g0291others(1): Show | 4 | 298 | 0.0134 | -5616 | c.316 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/88 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95900838 | AAAGATCA others(5609): Show |
A | exon_loss_variant | HIGH | HG01943.hp1 HG01978.hp1 HG02132.hp2 others(2): Show |
a0006a0021 | a0006c0045a0006c0061a0006c0062others(2): Show | a0006c0045t0001a0006c0061t0001a0006c0062t0001others(2): Show | a0006c0045t0001g0150a0006c0061t0001g0155a0006c0062t0001g0157others(2): Show | 5 | 298 | 0.0168 | -5616 | c.306 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 56/88 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95904116 | AGTGTGTG others(5609): Show |
A | exon_loss_variant | HIGH | NA18973.hp1 | a0034 | a0034c0046 | a0034c0046t0001 | a0034c0046t0001g0169 | 1 | 298 | 0.0034 | -5616 | c.285 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 52/88 | chr2 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95894704 | ATCAACAA others(5608): Show |
A | exon_loss_variant | HIGH | NA19062.hp2 NA19076.hp1 |
a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0026a0018c0027t0001g0073 | 2 | 298 | 0.0067 | -5615 | c.336 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 62/88 | chr2 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105234560 | CGTGGCAC others(5602): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 72 | 0.0139 | -5609 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5126927 | GAATATAC others(5598): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0161 | 2 | 286 | 0.0070 | -5605 | c.208 others(19): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015741 | ATCATATA others(5597): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0182 | 2 | 212 | 0.0094 | -5604 | c.316 others(19): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CALD1_chr7_134774634_134975729 | 134900101 | AAGAAAAT others(5596): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 262 | 0.0038 | -5603 | c.72- others(17): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77380804 | AGGGACTC others(5594): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 150 | 0.0067 | -5601 | c.77- others(17): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77380804 | AGGGACTC others(5594): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 158 | 0.0063 | -5601 | c.23- others(17): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2454031 | TACAATTA others(5574): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 50 | 0.0200 | -5581 | c.110 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51629822 | CCCTGCCA others(5572): Show |
C | exon_loss_variant | HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(29): Show |
a0005 | a0005c0008a0005c0014a0005c0015others(4): Show | a0005c0008t0003a0005c0014t0003a0005c0014t0009others(8): Show | a0005c0008t0003g0020a0005c0008t0003g0021a0005c0008t0003g0065others(27): Show | 32 | 414 | 0.0773 | -5579 | c.-50 others(12): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
TNFRSF13B_chr17_16934081_16977118 | 16944838 | CAGGGAGC others(5564): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18954.hp1 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0054 | 1 | 404 | 0.0025 | -5571 | c.200 others(17): Show |
TNFRSF13B | ENSG00000240505.9 | transcript | ENST00000261652.7 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105144379 | TTCTGGGC others(5558): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 141 | 0.0071 | -5565 | c.83- others(17): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ORM1_chr9_114318098_114331479 | 114325917 | CCCACTGT others(5555): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02572.hp1 | a0000 | a0000c0014 | a0000c0014t0004 | a0000c0014t0004g0054 | 1 | 464 | 0.0022 | -5562 | c.541 others(13): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LCE1E_chr1_152781257_152793426 | 152787869 | GCTGTATT others(5550): Show |
G | splice_region_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(53): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 56 | 410 | 0.1366 | -5557 | c.*21 others(10): Show |
LCE1E | ENSG00000186226.9 | transcript | ENST00000368770.4 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86725238 | TTCATGTC others(5545): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp2 others(7): Show |
a0004a0012 | a0004c0005a0004c0028a0012c0016 | a0004c0005t0004a0004c0005t0005a0004c0028t0005others(1): Show | a0004c0005t0004g0001a0004c0005t0004g0002a0004c0005t0004g0003others(7): Show | 10 | 198 | 0.0505 | -5552 | c.160 others(19): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 10/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130628722 | TAAGATCG others(5535): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(144): Show |
a0001a0002a0003others(25): Show | a0001c0001a0002c0002a0002c0049others(48): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(93): Show | a0001c0001t0001g0188a0001c0001t0001g0195a0001c0001t0002g0163others(142): Show | 147 | 264 | 0.5568 | -5542 | c.499 others(18): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PUS7L_chr12_43713992_43763790 | 43736543 | AGAGAACC others(5518): Show |
A | exon_loss_variant | HIGH | HG03098.hp1 | a0012 | a0012c0013 | a0012c0013t0008 | a0012c0013t0008g0182 | 1 | 306 | 0.0033 | -5525 | c.136 others(13): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 6/9 | 1639/13567 | chr12 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17401464 | CCTGAGCT others(5514): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0105a0002c0006t0002g0144 | 2 | 218 | 0.0092 | -5521 | c.261 others(19): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |