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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF10_chr1_146059711_146149804 | 146098055 | ATCCAGCA others(14143): Show |
A | exon_loss_variant | HIGH | HG02155.hp1 | a0059 | a0059c0139 | a0059c0139t0004 | a0059c0139t0004g0221 | 1 | 282 | 0.0035 | -14150 | c.407 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 49/90 | 6301/13030 | chr1 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 199 | 0.0050 | -14112 | c.238 others(21): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 205 | 0.0049 | -14112 | c.239 others(21): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 209 | 0.0048 | -14112 | c.238 others(21): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 217 | 0.0046 | -14112 | c.235 others(21): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 233 | 0.0043 | -14112 | c.239 others(20): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140835389 | GTTCTTGT others(14105): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG02015.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0247 | 1 | 245 | 0.0041 | -14112 | c.105 others(15): Show |
p.Leu others(13): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/4 | 1169/5339 | 1054/2814 | 352/937 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
DOCK3_chr3_50669927_51389198 | 50904643 | AGTTTAAG others(13979): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0164 | 1 | 210 | 0.0048 | -13986 | c.218 others(19): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCDC66_chr3_56552175_56626837 | 56573699 | GAAGGGCT others(13850): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG01952.hp2 others(11): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002a0005c0006t0003 | a0002c0002t0002g0209 a0002c0002t0002g0243 a0002c0002t0002g0244 others(6): Show |
14 | 370 | 0.0378 | -13857 | c.936 others(17): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514141 | TCCCTTCC others(13783): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG02622.hp2 others(4): Show |
a0001a0004a0007others(1): Show | a0001c0054a0004c0011a0007c0014others(3): Show | a0001c0054t0008a0004c0011t0001a0007c0014t0001others(3): Show | a0001c0054t0008g0077 a0004c0011t0001g0076 a0007c0014t0001g0073 others(4): Show |
7 | 251 | 0.0279 | -13790 | c.-84 others(18): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71363372 | ACAGAAAC others(13768): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 172 | 0.0058 | -13775 | c.-46 others(21): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TCTN3_chr10_95658401_95698927 | 95666176 | AGTGATCT others(13642): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0111 | 1 | 398 | 0.0025 | -13649 | c.159 others(18): Show |
TCTN3 | ENSG00000119977.22 | transcript | ENST00000371217.10 | protein_coding | 13/13 | chr10 | TogoVar | |||||||
POTEJ_chr2_130606440_130663037 | 130633879 | CAGTTAGT others(13630): Show |
C | exon_loss_variant | HIGH | HG02300.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0045 | 1 | 130 | 0.0077 | -13637 | c.129 others(19): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCHF3_chr5_126862714_127035558 | 126892334 | GAGTGGTG others(13520): Show |
G | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 293 | 0.0034 | -13527 | c.393 others(18): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74383653 | TGCCTGTA others(13455): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG01943.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0119 a0002c0002t0008g0122 a0002c0002t0008g0127 |
3 | 260 | 0.0115 | -13462 | c.250 others(14): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36958222 | GACAGAGT others(13440): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0005 | a0005c0018 | a0005c0018t0087 | a0005c0018t0087g0258 | 1 | 256 | 0.0039 | -13447 | c.-50 others(14): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 2/11 | chr21 | TogoVar | |||||||
WWOX_chr16_78094654_79217667 | 78337741 | ATGAAATA others(13253): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(33): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0085 others(33): Show |
36 | 142 | 0.2535 | -13260 | c.517 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | chr16 | TogoVar | |||||||
CCDC192_chr5_127698391_127946507 | 127734365 | GGAATAAT others(13173): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 232 | 0.0043 | -13180 | c.115 others(18): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0003a0010a0014others(3): Show | a0003c0002a0003c0095a0003c0098others(12): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(12): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(47): Show |
51 | 306 | 0.1667 | -13144 | c.-38 others(14): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 1/48 | chr7 | TogoVar | |||||||
GOLGA6C_chr15_75253334_75278455 | 75265352 | GGACGAAT others(13096): Show |
G | exon_loss_variant | HIGH | HG04115.hp2 | a0011 | a0011c0018 | a0011c0018t0005 | a0011c0018t0005g0114 | 1 | 139 | 0.0072 | -13103 | c.688 others(9): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 10/18 | 953/5603 | chr15 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50185808 | CACTATTG others(13088): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0105 | 1 | 106 | 0.0094 | -13095 | c.-28 others(19): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43197560 | GTGTATGA others(13071): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG01981.hp2 | a0012 | a0012c0015 | a0012c0015t0009 | a0012c0015t0009g0183 | 1 | 254 | 0.0039 | -13078 | c.-51 others(13096): Show |
p.Met others(17): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 3/6 | 1/1260 | 1/419 | chr19 | TogoVar | ||||
TMLHE_chrX_155484011_155617952 | 155560528 | ATGGTGGT others(13067): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(100): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0192 a0001c0001t0002g0005 a0001c0001t0002g0108 others(99): Show |
103 | 214 | 0.4813 | -13074 | c.-1- others(17): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10520105 | GTACTAAA others(13027): Show |
G | exon_loss_variant | HIGH | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0322 | 1 | 322 | 0.0031 | -13034 | c.-17 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43197627 | CATTGTCA others(13004): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02486.hp2 NA18952.hp2 |
a0012 | a0012c0015 | a0012c0015t0009 | a0012c0015t0009g0021 | 2 | 256 | 0.0078 | -13011 | c.-51 others(13029): Show |
p.Met others(17): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 3/6 | 1/1260 | 1/419 | chr19 | TogoVar | ||||
PGA4_chr11_61217347_61236694 | 61223849 | GGGCACAA others(12838): Show |
G | exon_loss_variant | HIGH | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 304 | 0.0033 | -12845 | c.219 others(13): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210428015 | TTGCTGAG others(12817): Show |
T | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0078 a0001c0001t0023g0077 |
2 | 266 | 0.0075 | -12824 | c.856 others(18): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SULT1A1_chr16_28600258_28615044 | 28602263 | CGCCCTGC others(12774): Show |
C | transcript_ablation | HIGH | HG02698.hp2 NA18942.hp1 |
a0006 | a0006c0000 | a0006c0000t0000 | a0006c0000t0000g0000 | 2 | 208 | 0.0096 | -12781 | c.-51 others(11): Show |
p.0? | SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33094289 | GCCATCTC others(12734): Show |
G | exon_loss_variant | HIGH | NA19010.hp2 | a0019 | a0019c0015 | a0019c0015t0001 | a0019c0015t0001g0086 | 1 | 342 | 0.0029 | -12741 | c.134 others(17): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122580868 | CCCCAGTC others(12696): Show |
C | exon_loss_variant | HIGH | HG02738.hp1 HG03017.hp1 HG04184.hp2 others(2): Show |
a0011 | a0011c0012a0011c0032 | a0011c0012t0001a0011c0032t0002 | a0011c0012t0001g0088 a0011c0012t0001g0090 a0011c0012t0001g0107 others(2): Show |
5 | 280 | 0.0179 | -12703 | c.102 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 12/56 | 1046/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(36): Show |
a0002a0003a0007others(4): Show | a0002c0007a0002c0008a0003c0003others(7): Show | a0002c0007t0003a0002c0007t0004a0002c0008t0002others(9): Show | a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 others(30): Show |
39 | 217 | 0.1797 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122584588 | GTGGCCAA others(12696): Show |
G | exon_loss_variant | HIGH | NA19009.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0063 | 1 | 278 | 0.0036 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122585799 | GCCCAGGT others(12696): Show |
G | exon_loss_variant | HIGH | HG03540.hp1 | a0039 | a0039c0033 | a0039c0033t0001 | a0039c0033t0001g0106 | 1 | 280 | 0.0036 | -12703 | c.146 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73599200 | CTGTTTGA others(12681): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(14): Show |
17 | 206 | 0.0825 | -12688 | c.507 others(19): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122582487 | TTTGGCAT others(12679): Show |
T | exon_loss_variant | HIGH | NA18955.hp2 | a0006 | a0006c0004 | a0006c0004t0003 | a0006c0004t0003g0136 | 1 | 280 | 0.0036 | -12686 | c.106 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 13/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120440166 | ATGCTTTT others(12626): Show |
A | exon_loss_variant | HIGH | HG03491.hp2 HG03492.hp1 |
a0004 | a0004c0015 | a0004c0015t0004 | a0004c0015t0004g0226 a0004c0015t0004g0227 |
2 | 290 | 0.0069 | -12633 | c.493 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65435631 | AGATTGCT others(12610): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 372 | 0.0027 | -12617 | c.-32 others(20): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HTR1F_chr3_87787706_87998839 | 87840625 | TGCTGAAA others(12570): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0135 a0001c0001t0002g0153 a0001c0001t0003g0151 others(1): Show |
4 | 248 | 0.0161 | -12577 | c.-43 others(19): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
TLR1_chr4_38791255_38809791 | 38797235 | CTAGCTCA others(12549): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 | a0013 | a0013c0031 | a0013c0031t0008 | a0013c0031t0008g0081 | 1 | 443 | 0.0023 | -12556 | c.-52 others(10): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 3/4 | 1870/2851 | chr4 | TogoVar | ||||||
GOLGA6C_chr15_75253334_75278455 | 75266025 | GTTTTTTT others(12423): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 | a0011 | a0011c0019 | a0011c0019t0005 | a0011c0019t0005g0115 | 1 | 156 | 0.0064 | -12430 | c.848 others(12): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 11/18 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76592255 | TTTAGAAA others(12335): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(91): Show |
a0001a0009 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(91): Show |
94 | 310 | 0.3032 | -12342 | c.271 others(21): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 22/31 | chr15 | TogoVar | |||||||
PGA3_chr11_61198515_61218098 | 61205813 | ATGGTGAA others(12278): Show |
A | exon_loss_variant | HIGH | HG01071.hp1 | a0007 | a0007c0013 | a0007c0013t0005 | a0007c0013t0005g0080 | 1 | 6 | 0.1667 | -12285 | c.220 others(13): Show |
PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133122300 | AGCAGTGG others(12244): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 68 | 0.0147 | -12251 | c.62- others(19): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36415226 | CTGCACTC others(12206): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 142 | 0.0070 | -12213 | c.-72 others(18): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122600824 | GTGGATGA others(12170): Show |
G | exon_loss_variant | HIGH | HG02896.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0018a0022 | a0018c0024a0018c0039a0022c0025 | a0018c0024t0003a0018c0039t0002a0022c0025t0003 | a0018c0024t0003g0022 a0018c0039t0002g0053 a0022c0025t0003g0162 others(1): Show |
5 | 277 | 0.0181 | -12177 | c.334 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 29/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0002a0003a0006others(21): Show | a0002c0007a0003c0003a0003c0054others(26): Show | a0002c0007t0001a0002c0007t0004a0003c0003t0001others(32): Show | a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show |
99 | 269 | 0.3680 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(12170): Show |
T | exon_loss_variant | HIGH | NA18956.hp2 NA18981.hp1 NA18983.hp2 |
a0002a0044 | a0002c0008a0044c0034 | a0002c0008t0002a0044c0034t0002 | a0002c0008t0002g0143 a0002c0008t0002g0237 a0044c0034t0002g0048 |
3 | 208 | 0.0144 | -12177 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(12170): Show |
T | exon_loss_variant | HIGH | HG01069.hp1 NA19030.hp1 |
a0001a0047 | a0001c0001a0047c0057 | a0001c0001t0002a0047c0057t0002 | a0001c0001t0002g0188 a0047c0057t0002g0039 |
2 | 209 | 0.0096 | -12177 | c.369 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CYP2D6_chr22_42121499_42135810 | 42123231 | GCCTCTGC others(12145): Show |
G | transcript_ablation | HIGH | HG00621.hp2 HG01069.hp1 HG01192.hp2 others(11): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 14 | 414 | 0.0338 | -12152 | c.-45 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
CYP2D6_chr22_42121499_42135810 | 42123462 | TTTTTTAG others(12144): Show |
T | transcript_ablation | HIGH | HG00099.hp2 HG01891.hp2 HG02300.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 416 | 0.0216 | -12151 | c.-48 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar |