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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRL4_chr1_78884764_79011730 | 78927923 | AAGATTTT others(5911): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(9): Show |
12 | 390 | 0.0308 | -5918 | c.877 others(16): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156521329 | CAACAAGA others(5910): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 150 | 0.0067 | -5917 | c.294 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004 a0000c0004t0003g0045 a0000c0004t0003g0050 others(2): Show |
37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158116851 | GGATGCTT others(5890): Show |
G | exon_loss_variant | HIGH | HG00280.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0146 | 1 | 342 | 0.0029 | -5897 | c.340 others(15): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPK3BL2_chr7_102532919_102548696 | 102536844 | CCTGTAAT others(5888): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG01255.hp1 HG01258.hp2 others(4): Show |
a0000 | a0000c0005 | a0000c0005t0007 | a0000c0005t0007g0003 | 7 | 182 | 0.0385 | -5895 | c.112 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | chr7 | TogoVar | |||||||
RHEX_chr1_206048173_206107449 | 206049268 | AAAGCATG others(5879): Show |
A | splice_donor_variant others(4): Show |
HIGH | NA18946.hp2 NA18975.hp1 NA18995.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0002c0004t0006 | a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 others(1): Show |
5 | 334 | 0.0150 | -5886 | c.-40 others(14): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10411810 | CGGCTGGC others(5867): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 314 | 0.0032 | -5874 | c.-24 others(17): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63104766 | GCTTTCTG others(5862): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0106 a0001c0001t0002g0214 a0001c0001t0009g0216 |
3 | 266 | 0.0113 | -5869 | c.322 others(18): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 4/27 | chr17 | TogoVar | |||||||
PCDHB2_chr5_141089615_141103703 | 141096905 | CTCGGTGC others(5846): Show |
C | frameshift_variant others(4): Show |
HIGH | HG03579.hp1 | a0000 | a0000c0014 | a0000c0014t0009 | a0000c0014t0009g0000 | 1 | 418 | 0.0024 | -5853 | c.211 others(10): Show |
p.Ser others(5): Show |
PCDHB2 | ENSG00000112852.7 | transcript | ENST00000194155.7 | protein_coding | 1/1 | 2292/4089 | 2116/2397 | 706/798 | chr5 | TogoVar | |||
PCDHB3_chr5_141095473_141108827 | 141096905 | CTCGGTGC others(5846): Show |
C | start_lost others(1): Show |
HIGH | HG03579.hp1 | a0016 | a0016c0025 | a0016c0025t0017 | a0016c0025t0017g0000 | 1 | 424 | 0.0024 | -5853 | c.-37 others(10): Show |
p.Met others(11): Show |
PCDHB3 | ENSG00000113205.5 | transcript | ENST00000231130.3 | protein_coding | 1/1 | 1/2391 | 1/796 | chr5 | TogoVar | ||||
SMG1_chr16_18799860_18931408 | 18821202 | TGAGATAT others(5845): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(129): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(13): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0030others(23): Show | a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 others(129): Show |
132 | 300 | 0.4400 | -5852 | c.974 others(18): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 55/62 | chr16 | TogoVar | |||||||
CTXND1_chr15_80190481_80257213 | 80228699 | GGCTCACT others(5841): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0058 | a0001c0003t0008g0262 a0001c0003t0058g0261 |
2 | 396 | 0.0051 | -5848 | c.-21 others(21): Show |
CTXND1 | ENSG00000259417.3 | transcript | ENST00000560778.3 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PGA4_chr11_61217347_61236694 | 61230850 | CTCAACAA others(5837): Show |
C | exon_loss_variant others(5): Show |
HIGH | NA21309.hp1 | a0000 | a0000c0016 | a0000c0016t0005 | a0000c0016t0005g0058 | 1 | 304 | 0.0033 | -5844 | c.101 others(14): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 9/9 | chr11 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82844966 | ACCTGTAA others(5831): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0002c0002t0006 | a0001c0001t0017g0035 a0002c0002t0006g0090 |
2 | 96 | 0.0208 | -5838 | c.84- others(16): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN13_chr7_16748755_16789536 | 16755037 | TTCCACAG others(5828): Show |
T | intron_variant | MODIFIER | NA18989.hp2 NA19058.hp1 NA19079.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0025a0001c0004t0002 | a0001c0003t0002g0112 a0001c0003t0025g0113 a0001c0004t0002g0111 |
3 | 440 | 0.0068 | -5835 | c.63+ others(15): Show |
TSPAN13 | ENSG00000106537.8 | transcript | ENST00000262067.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9879423 | TGGCCTCC others(5823): Show |
T | splice_donor_variant others(4): Show |
HIGH | NA18943.hp2 NA18973.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048 a0001c0003t0005g0049 |
2 | 410 | 0.0049 | -5830 | c.-51 others(14): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122816728 | TTGTCAGG others(5815): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 126 | 0.0079 | -5822 | c.339 others(19): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 1/29 | chr7 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243760123 | CATTTTGT others(5814): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 301 | 0.0033 | -5821 | c.47- others(17): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167188535 | ATAAGATT others(5808): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0053 others(21): Show |
24 | 144 | 0.1667 | -5815 | c.189 others(19): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
BTBD8_chr1_92075345_92189723 | 92113650 | CCTTGTGA others(5807): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011 a0001c0003t0003g0012 |
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 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(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 | a0001c0003t0013g0010 a0001c0018t0002g0012 a0002c0016t0004g0024 |
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 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
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 | a0004c0008t0017g0012 a0004c0008t0019g0013 |
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 | a0002c0002t0001g0001 a0002c0002t0008g0009 a0002c0002t0022g0017 others(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 | a0001c0001t0001g0031 a0001c0001t0001g0216 a0001c0001t0001g0217 others(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 | a0001c0001t0005g0011 a0003c0005t0024g0023 |
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 | a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 others(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 | a0036c0040t0001g0220 a0037c0039t0001g0221 a0040c0044t0001g0199 |
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 | a0006c0016t0001g0124 a0006c0016t0001g0290 a0006c0016t0001g0291 others(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 | a0006c0045t0001g0150 a0006c0061t0001g0155 a0006c0062t0001g0157 others(2): Show |
5 | 298 | 0.0168 | -5616 | c.306 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 56/88 | chr2 | TogoVar |