| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBPF8_chr1_120410035_120474676 | 120442021 | AAAAAAAA others(6342): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0015 | 1 | 292 | 0.0034 | -6349 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GCH1_chr14_54837017_54907826 | 54853171 | TCAGGCTG others(6317): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 346 | 0.0029 | -6324 | c.509 others(16): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
| ZFP14_chr19_36329453_36384201 | 36349849 | AATAAAAA others(6314): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0008 others(52): Show |
72 | 368 | 0.1957 | -6321 | c.235 others(17): Show |
ZFP14 | ENSG00000142065.14 | transcript | ENST00000270001.12 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1398755 | TGAGTCGT others(6310): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -6317 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RIMS2_chr8_103495610_104259430 | 103894153 | TAACTATT others(6309): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03471.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0003a0001c0001t0006a0010c0018t0003 | a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0135 others(4): Show |
7 | 172 | 0.0407 | -6316 | c.175 others(19): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SMN2_chr5_70044669_70082595 | 70072861 | GCCTGTAA others(6303): Show |
G | exon_loss_variant | HIGH | HG01074.hp1 HG01175.hp1 HG01192.hp2 |
a0000 | a0000c0005 | a0000c0005t0003 | a0000c0005t0003g0009 a0000c0005t0003g0080 |
3 | 108 | 0.0278 | -6310 | c.834 others(14): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/9 | chr5 | TogoVar | |||||||
| CACNA2D1_chr7_81941444_82448777 | 82048225 | ATCTGGAA others(6299): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 144 | 0.0069 | -6306 | c.879 others(17): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
| PDE1A_chr2_182135041_182432036 | 182190482 | CACAGCCT others(6299): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0181 | 1 | 264 | 0.0038 | -6306 | c.112 others(19): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 10/14 | chr2 | TogoVar | |||||||
| CSMD3_chr8_112217928_113441939 | 113028236 | TGTCACAA others(6295): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0011 | a0011c0035 | a0011c0035t0001 | a0011c0035t0001g0003 | 1 | 80 | 0.0125 | -6302 | c.918 others(18): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146136989 | CATAAGGC others(6289): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG00558.hp2 HG00597.hp2 others(58): Show |
a0004a0007a0013others(42): Show | a0004c0004a0007c0022a0007c0023others(48): Show | a0004c0004t0003a0007c0022t0003a0007c0023t0003others(48): Show | a0004c0004t0003g0168 a0004c0004t0003g0175 a0004c0004t0003g0195 others(57): Show |
61 | 283 | 0.2156 | -6296 | c.176 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 6/90 | chr1 | TogoVar | |||||||
| CLEC18B_chr16_74403631_74426478 | 74416618 | GCCACCTT others(6286): Show |
G | exon_loss_variant | HIGH | HG00597.hp1 | a0015 | a0015c0023 | a0015c0023t0012 | a0015c0023t0012g0044 | 1 | 287 | 0.0035 | -6293 | c.-16 others(14): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146968574 | GCAGGGGG others(6284): Show |
G | exon_loss_variant | HIGH | NA18906.hp2 | a0028 | a0028c0021 | a0028c0021t0023 | a0028c0021t0023g0029 | 1 | 122 | 0.0082 | -6291 | c.109 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF12_chr1_146933324_147001198 | 146963870 | CACTGGAG others(6283): Show |
C | exon_loss_variant | HIGH | HG02258.hp2 HG03098.hp2 |
a0013 | a0013c0012 | a0013c0012t0004 | a0013c0012t0004g0060 a0013c0012t0004g0063 |
2 | 122 | 0.0164 | -6290 | c.494 others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1370001 | TAAGCCGC others(6282): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 115 | 0.0087 | -6289 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| NBPF12_chr1_146933324_147001198 | 146970102 | GGTGTGGT others(6282): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
a0012a0030 | a0012c0011a0030c0045 | a0012c0011t0012a0012c0011t0015a0030c0045t0012 | a0012c0011t0012g0083 a0012c0011t0015g0082 a0030c0045t0012g0084 |
3 | 122 | 0.0246 | -6289 | c.130 others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149072696 | ACAGGGCC others(6282): Show |
A | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0035 | a0035c0033 | a0035c0033t0013 | a0035c0033t0013g0311 | 1 | 344 | 0.0029 | -6289 | c.493 others(14): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 14/30 | chr1 | TogoVar | |||||||
| KIF26B_chr1_245149985_245714432 | 245275076 | ACCAGTGA others(6268): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 160 | 0.0063 | -6275 | c.466 others(19): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZFPM2_chr8_105313438_105809539 | 105665879 | ATGATAAA others(6264): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0090 | 1 | 92 | 0.0109 | -6271 | c.532 others(19): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| HBZ_chr16_147644_159503 | 153236 | GTTCCCTC others(6260): Show |
G | exon_loss_variant | HIGH | HG01433.hp2 | a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0054 | 1 | 432 | 0.0023 | -6267 | c.95+ others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
| KRT6B_chr12_52441651_52457146 | 52450881 | TTTCTTTT others(6258): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG04199.hp1 | a0016 | a0016c0026 | a0016c0026t0006 | a0016c0026t0006g0020 | 1 | 434 | 0.0023 | -6265 | c.-50 others(13): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
| RNF11_chr1_51231273_51278447 | 51248373 | ATTTTGTA others(6250): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 274 | 0.0073 | -6257 | c.123 others(19): Show |
RNF11 | ENSG00000123091.5 | transcript | ENST00000242719.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| XIRP2_chr2_166883480_167264753 | 166988442 | GAAAACTT others(6249): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(42): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0003t0004a0001c0010t0001others(14): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 others(42): Show |
45 | 190 | 0.2368 | -6256 | c.408 others(19): Show |
XIRP2 | ENSG00000163092.22 | transcript | ENST00000409195.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| NDUFA12_chr12_94966333_95008697 | 94979557 | GAGGTGGC others(6247): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 442 | 0.0023 | -6254 | c.257 others(17): Show |
NDUFA12 | ENSG00000184752.14 | transcript | ENST00000327772.7 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
| NBEA_chr13_34937270_35677736 | 34984493 | GTTCTTTT others(6235): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG04184.hp1 HG04204.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0018 | a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006 |
3 | 122 | 0.0246 | -6242 | c.294 others(19): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ACBD3_chr1_226139679_226191741 | 226174609 | GCAAAAAT others(6227): Show |
G | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 396 | 0.0025 | -6234 | c.286 others(17): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
| SMIM35_chr11_117998634_118091963 | 118054498 | GTTATAAA others(6226): Show |
G | intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0377 | 1 | 408 | 0.0025 | -6233 | c.7+2 others(15): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
| HSD17B1_chr17_42547923_42560214 | 42549608 | TCCGGCCC others(6220): Show |
T | transcript_ablation | HIGH | HG03453.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 422 | 0.0024 | -6227 | c.-33 others(10): Show |
p.0? | HSD17B1 | ENSG00000108786.11 | transcript | ENST00000585807.6 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
| PEX26_chr22_18072990_18110396 | 18102978 | AGGAGGCT others(6210): Show |
A | splice_region_variant | LOW | HG01167.hp1 HG01169.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0045 a0002c0002t0021g0149 |
3 | 398 | 0.0075 | -6217 | c.*14 others(13): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
| WDPCP_chr2_63114559_63593477 | 63128987 | GAATTTGA others(6209): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 216 | 0.0046 | -6216 | c.219 others(20): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 17/17 | chr2 | TogoVar | |||||||
| OR51A4_chr11_4937831_4952605 | 4946398 | GCTCCTTT others(6200): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(16): Show |
a0005 | a0005c0005 | a0005c0005t0007a0005c0005t0014 | a0005c0005t0007g0008 a0005c0005t0014g0015 |
19 | 446 | 0.0426 | -6207 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 825/4393 | chr11 | TogoVar | ||||||
| RFFL_chr17_35000990_35068707 | 35027950 | TTGAACTC others(6192): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp2 |
a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0094 a0001c0004t0032g0183 |
2 | 372 | 0.0054 | -6199 | c.-8- others(15): Show |
RFFL | ENSG00000092871.17 | transcript | ENST00000394597.7 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
| CRK_chr17_1415693_1461232 | 1430051 | TTTTTTTT others(6182): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0243 | 1 | 404 | 0.0025 | -6189 | c.777 others(16): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
| SMG1_chr16_18799860_18931408 | 18911564 | TCCACTAA others(6159): Show |
T | intron_variant | MODIFIER | NA18612.hp2 NA18952.hp1 NA18955.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0105 a0001c0001t0001g0125 others(7): Show |
10 | 300 | 0.0333 | -6166 | c.92+ others(16): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 1/62 | chr16 | TogoVar | |||||||
| HS6ST3_chr13_96085107_96844562 | 96267537 | CTTTGTGT others(6155): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 116 | 0.0086 | -6162 | c.707 others(21): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MEI4_chr6_77648039_77932045 | 77730801 | CAGAGTGT others(6155): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0218 | 1 | 360 | 0.0028 | -6162 | c.233 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| TNN_chr1_175062833_175153075 | 175101812 | ACCAGAGC others(6151): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(87): Show |
a0003a0009a0010others(15): Show | a0003c0002a0003c0015a0003c0047others(22): Show | a0003c0002t0001a0003c0002t0012a0003c0015t0001others(25): Show | a0003c0002t0001g0266 a0003c0002t0001g0270 a0003c0002t0001g0278 others(86): Show |
90 | 374 | 0.2406 | -6158 | c.211 others(19): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SUPT3H_chr6_44821726_45382934 | 45144596 | GACAAGGA others(6150): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 262 | 0.0038 | -6157 | c.102 others(19): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| LATS1_chr6_149653153_149723101 | 149668117 | ACATGTTG others(6149): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 272 | 0.0037 | -6156 | c.288 others(19): Show |
LATS1 | ENSG00000131023.13 | transcript | ENST00000543571.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
| DEFA1B_chr8_6991766_7004198 | 6998056 | CACTTTTT others(6135): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 2 | 398 | 0.0050 | -6142 | c.-50 others(13): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
| ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show |
162 | 330 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PRDM7_chr16_90051566_90082331 | 90064602 | CGGGGTTT others(6131): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0003a0006c0006t0011a0006c0006t0022others(1): Show | a0006c0006t0003g0107 a0006c0006t0003g0109 a0006c0006t0003g0196 others(5): Show |
9 | 392 | 0.0230 | -6138 | c.302 others(16): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| SLC39A11_chr17_72640949_73097688 | 72819088 | GTCCCAAC others(6126): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0004g0160 |
2 | 180 | 0.0111 | -6133 | c.601 others(19): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| FBXL7_chr5_15495180_15944793 | 15906424 | TGACCTAG others(6122): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0111 a0001c0001t0005g0096 a0001c0001t0008g0098 others(1): Show |
4 | 122 | 0.0328 | -6129 | c.128 others(19): Show |
FBXL7 | ENSG00000183580.10 | transcript | ENST00000504595.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 90675634 | TGTGTTTT others(6116): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01192.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(31): Show |
34 | 38 | 0.8947 | -6123 | c.193 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ZNF34_chr8_144767224_144792317 | 144779689 | GGCCTCCC others(6108): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0134 | 1 | 414 | 0.0024 | -6115 | c.-10 others(17): Show |
ZNF34 | ENSG00000196378.13 | transcript | ENST00000429371.7 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| KPNA7_chr7_99168572_99213115 | 99194181 | GTCACTGG others(6105): Show |
G | exon_loss_variant | HIGH | NA18940.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0153 | 1 | 334 | 0.0030 | -6112 | c.201 others(16): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
| KCNIP4_chr4_20723606_21953772 | 21159363 | TAGAAAAT others(6104): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(60): Show |
63 | 80 | 0.7875 | -6111 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
| PRR20A_chr13_57135918_57148939 | 57140192 | GCCACCCC others(6103): Show |
G | transcript_ablation | HIGH | HG03704.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 330 | 0.0030 | -6110 | c.-95 others(10): Show |
p.0? | PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
| ZNF253_chr19_19860882_19899674 | 19867868 | TTGACTTT others(6100): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0332 | 1 | 370 | 0.0027 | -6107 | c.3+1 others(13): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| CSTPP1_chr11_46931761_47167247 | 47036037 | ATATATAT others(6096): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 others(44): Show |
47 | 224 | 0.2098 | -6103 | c.150 others(19): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar |