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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NME1_chr17_51148559_51167168 | 51150779 | GCAGTGAG others(6791): Show |
G | exon_loss_variant | HIGH | HG03195.hp2 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0034 | 1 | 384 | 0.0026 | -6798 | c.-28 others(14): Show |
NME1 | ENSG00000239672.8 | transcript | ENST00000393196.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1399997 | GGAGTCGT others(6781): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0029 | 1 | 40 | 0.0250 | -6788 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23967493 | CTCTGGGA others(6779): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show |
a0000 | a0000c0004a0000c0008 | a0000c0004t0005a0000c0008t0012 | a0000c0004t0005g0026 a0000c0004t0005g0139 a0000c0004t0005g0142 others(4): Show |
8 | 267 | 0.0300 | -6786 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0000 | a0000c0004 | a0000c0004t0005 | a0000c0004t0005g0022 a0000c0004t0005g0028 a0000c0004t0005g0093 others(11): Show |
16 | 267 | 0.0599 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | |||||||
TBCK_chr4_106036599_106321209 | 106135421 | CTCTGGAG others(6775): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0013a0001c0001t0041a0001c0001t0043others(12): Show | a0001c0001t0013g0085 a0001c0001t0013g0088 a0001c0001t0013g0089 others(82): Show |
85 | 320 | 0.2656 | -6782 | c.223 others(21): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 23/25 | chr4 | TogoVar | |||||||
ORM2_chr9_114324869_114338251 | 114325917 | CCCACTGT others(6770): Show |
C | exon_loss_variant | HIGH | HG02572.hp2 | a0000 | a0000c0022 | a0000c0022t0004 | a0000c0022t0004g0024 | 1 | 446 | 0.0022 | -6777 | c.-39 others(13): Show |
ORM2 | ENSG00000228278.5 | transcript | ENST00000431067.4 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
ORM2_chr9_114324869_114338251 | 114326528 | CAACCCTG others(6770): Show |
C | transcript_ablation | HIGH | homoSapiens_chm13v2.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 446 | 0.0022 | -6777 | c.-33 others(10): Show |
p.0? | ORM2 | ENSG00000228278.5 | transcript | ENST00000431067.4 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114322594 | CAGCTGTT others(6764): Show |
C | transcript_ablation | HIGH | NA19072.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 464 | 0.0022 | -6771 | c.-53 others(10): Show |
p.0? | ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114322739 | CACTGAAG others(6764): Show |
C | transcript_ablation | HIGH | HG00280.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 464 | 0.0022 | -6771 | c.-39 others(10): Show |
p.0? | ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48624051 | CTAAACCC others(6755): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(46): Show |
a0001a0005a0007 | a0001c0001a0005c0007a0007c0011 | a0001c0001t0001a0001c0001t0006a0005c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(42): Show |
49 | 344 | 0.1424 | -6762 | c.247 others(17): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1369585 | CCATCTCA others(6749): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0007 | 1 | 115 | 0.0087 | -6756 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TCF20_chr22_42155013_42275653 | 42239176 | AACAATTT others(6745): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 355 | 0.0028 | -6752 | c.-37 others(19): Show |
TCF20 | ENSG00000100207.21 | transcript | ENST00000677622.1 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
CTAG1B_chrX_154612609_154624282 | 154617539 | GCAACCCG others(6736): Show |
G | transcript_ablation | HIGH | HG03225.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 254 | 0.0039 | -6743 | c.-50 others(10): Show |
p.0? | CTAG1B | ENSG00000184033.14 | transcript | ENST00000328435.3 | protein_coding | 3/3 | chrX | TogoVar | ||||||
H3C13_chr1_149808225_149818693 | 149811957 | TGTACTTG others(6729): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 374 | 0.0027 | -6736 | c.-50 others(11): Show |
p.0? | H3C13 | ENSG00000183598.4 | transcript | ENST00000331491.2 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
SH3RF1_chr4_169089259_169275956 | 169191391 | TAGATGAC others(6728): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 216 | 0.0046 | -6735 | c.394 others(19): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
KLRC3_chr12_10407315_10425595 | 10418938 | TTTATGGC others(6650): Show |
T | exon_loss_variant | HIGH | HG03209.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0034 | 1 | 448 | 0.0022 | -6657 | c.-50 others(13): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15815308 | TGCTTTAT others(6627): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(100): Show |
a0001a0004a0010others(2): Show | a0001c0001a0004c0004a0010c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(100): Show |
103 | 266 | 0.3872 | -6634 | c.326 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TENT2_chr5_79607441_79693246 | 79657460 | AATACACC others(6625): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02015.hp1 HG02083.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0252 others(2): Show |
5 | 344 | 0.0145 | -6632 | c.107 others(18): Show |
TENT2 | ENSG00000164329.15 | transcript | ENST00000453514.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63915020 | GCCTTTAT others(6609): Show |
G | transcript_ablation | HIGH | NA19057.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 420 | 0.0024 | -6616 | c.-28 others(11): Show |
p.0? | GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4/5 | chr17 | TogoVar | ||||||
RMDN1_chr8_86467349_86513686 | 86490001 | TAAAGATT others(6580): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0006 | a0004c0006t0015 | a0004c0006t0015g0057 | 1 | 368 | 0.0027 | -6587 | c.248 others(17): Show |
RMDN1 | ENSG00000176623.12 | transcript | ENST00000406452.8 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
PRR20A_chr13_57135918_57148939 | 57140442 | ACGCACCA others(6563): Show |
A | transcript_ablation | HIGH | HG03831.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 330 | 0.0030 | -6570 | c.-70 others(10): Show |
p.0? | PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104827778 | AGTTATTT others(6536): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0076 |
2 | 86 | 0.0233 | -6543 | c.683 others(19): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36778971 | GGTTCCTT others(6501): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0247 | 1 | 258 | 0.0039 | -6508 | c.189 others(21): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99901885 | AAGAAGGC others(6483): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0087 | 1 | 100 | 0.0100 | -6490 | c.874 others(19): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0000 | a0000c0013 | a0000c0013t0015 | a0000c0013t0015g0001 | 1 | 415 | 0.0024 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | |||
SRGAP1_chr12_63839700_64167217 | 64005628 | AGAGCAAG others(6449): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0005 | a0003c0005t0135 | a0003c0005t0135g0162 | 1 | 170 | 0.0059 | -6456 | c.427 others(18): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57485474 | TACACCAC others(6439): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02257.hp1 | a0038 | a0038c0040 | a0038c0040t0001 | a0038c0040t0001g0014 | 1 | 266 | 0.0038 | -6446 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/74 | chr3 | TogoVar | |||||||
ZNF700_chr19_11920107_11955763 | 11928689 | GCCACTGC others(6437): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02486.hp2 others(17): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0001a0003c0003t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0049 a0003c0003t0002g0007 a0003c0003t0002g0188 others(9): Show |
20 | 350 | 0.0571 | -6444 | c.63+ others(15): Show |
ZNF700 | ENSG00000196757.8 | transcript | ENST00000254321.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF700_chr19_11920107_11955763 | 11928732 | AAAAAAAA others(6436): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01981.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0047 a0003c0003t0004g0028 a0003c0003t0004g0068 others(1): Show |
6 | 350 | 0.0171 | -6443 | c.63+ others(15): Show |
ZNF700 | ENSG00000196757.8 | transcript | ENST00000254321.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66319387 | GGCAGATG others(6427): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0058 | 1 | 80 | 0.0125 | -6434 | c.334 others(21): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56279847 | CAGATCTT others(6411): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 368 | 0.0027 | -6418 | c.309 others(15): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXO5_chr1_40503767_40521038 | 40510988 | CACTTTGG others(6405): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02074.hp1 | a0000 | a0000c0000 | a0000c0000t0008 | a0000c0000t0008g0031 | 1 | 406 | 0.0025 | -6412 | c.-31 others(14): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143859204 | CGCTCACG others(6404): Show |
C | conservative_inframe_deletion | MODERATE | HG01081.hp1 HG02071.hp1 |
a0245a0268 | a0245c0110a0268c0122 | a0245c0110t0002a0268c0122t0002 | a0245c0110t0002g0172 a0268c0122t0002g0299 |
2 | 424 | 0.0047 | -6411 | c.763 others(10): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14124/16005 | 7639/15267 | 2547/5088 | chr8 | TogoVar | |||
ZNF846_chr19_9750357_9773738 | 9752902 | TATAACAA others(6398): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0000 | a0000c0004 | a0000c0004t0009 | a0000c0004t0009g0009 a0000c0004t0009g0250 a0000c0004t0009g0251 others(1): Show |
7 | 372 | 0.0188 | -6405 | c.313 others(13): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34227940 | CTACCATA others(6396): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 100 | 0.0100 | -6403 | c.341 others(21): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143858159 | CGGTAGGC others(6389): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0196 | a0196c0246 | a0196c0246t0001 | a0196c0246t0001g0181 | 1 | 424 | 0.0024 | -6396 | c.869 others(10): Show |
p.Gln others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 15169/16005 | 8699/15267 | 2900/5088 | chr8 | TogoVar | |||
C4A_chr6_31977057_32007681 | 31984683 | GCACAGAC others(6360): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0025 a0005c0008t0001g0098 |
4 | 322 | 0.0124 | -6367 | c.104 others(17): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C4B_chr6_32009795_32040418 | 32017421 | GCACAGAC others(6360): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(198): Show |
a0001a0003a0004others(17): Show | a0001c0003a0001c0004a0001c0008others(23): Show | a0001c0003t0001a0001c0004t0001a0001c0008t0001others(24): Show | a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0001g0029 others(72): Show |
201 | 334 | 0.6018 | -6367 | c.104 others(17): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120441739 | GGCAGGCA others(6359): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0005 | a0005c0036 | a0005c0036t0005 | a0005c0036t0005g0114 | 1 | 292 | 0.0034 | -6366 | c.778 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58083587 | TTTAAGGT others(6358): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0029 | a0001c0001t0013g0271 a0001c0001t0013g0276 a0001c0001t0013g0277 others(1): Show |
4 | 324 | 0.0124 | -6365 | c.-15 others(19): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF20_chr1_145285005_145430603 | 145303161 | GTCCAGGT others(6357): Show |
G | exon_loss_variant | HIGH | homoSapiens_chm13v2.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0001 | 1 | 6 | 0.1667 | -6364 | c.139 others(19): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 128/143 | chr1 | TogoVar | |||||||
TMEM35A_chrX_101073879_101101367 | 101087229 | GACAGGCG others(6351): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 322 | 0.0031 | -6358 | c.121 others(16): Show |
TMEM35A | ENSG00000126950.8 | transcript | ENST00000372930.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173031700 | TCCCAGCT others(6347): Show |
T | splice_acceptor_variant others(4): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0072 | 1 | 292 | 0.0034 | -6354 | c.*37 others(14): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0002 | a0002c0001a0002c0009a0002c0013others(7): Show | a0002c0001t0001a0002c0001t0009a0002c0001t0010others(21): Show | a0002c0001t0001g0005 a0002c0001t0001g0119 a0002c0001t0001g0121 others(71): Show |
75 | 292 | 0.2569 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF8_chr1_120410035_120474676 | 120436644 | GATGTTTT others(6346): Show |
G | exon_loss_variant | HIGH | HG02071.hp2 | a0019 | a0019c0038 | a0019c0038t0003 | a0019c0038t0003g0260 | 1 | 292 | 0.0034 | -6353 | c.493 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120442018 | CAAAAAAA others(6346): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(38): Show |
a0001a0005a0007others(2): Show | a0001c0022a0005c0004a0007c0008others(2): Show | a0001c0022t0007a0005c0004t0004a0005c0004t0011others(8): Show | a0001c0022t0007g0082 a0005c0004t0004g0007 a0005c0004t0004g0008 others(36): Show |
41 | 292 | 0.1404 | -6353 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120442502 | CAAAAAAG others(6346): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0010a0001c0045 | a0001c0010t0032a0001c0010t0058a0001c0010t0059others(5): Show | a0001c0010t0032g0075 a0001c0010t0032g0078 a0001c0010t0058g0076 others(6): Show |
9 | 292 | 0.0308 | -6353 | c.778 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120442949 | ACCCCCAG others(6346): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA20905.hp1 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0033 | 1 | 292 | 0.0034 | -6353 | c.778 others(12): Show |
p.Val others(19): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003 a0001c0007t0007g0084 a0001c0007t0007g0085 others(64): Show |
70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
NBPF8_chr1_120410035_120474676 | 120442020 | AAAAAAAA others(6343): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(22): Show |
a0001 | a0001c0002a0001c0018a0001c0020others(2): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0029others(6): Show | a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0024 others(22): Show |
25 | 292 | 0.0856 | -6350 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |