| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CR1_chr1_207491157_207646765 | 207555265 | AGCCTTCA others(17088): Show |
A | exon_loss_variant | HIGH | HG02258.hp2 HG02622.hp2 HG02965.hp2 others(4): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0019 | a0006c0005t0001g0016 a0006c0005t0001g0018 a0006c0005t0001g0019 others(4): Show |
7 | 355 | 0.0197 | -17095 | c.310 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2132008 | AGAGGTCC others(16815): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0010 | a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0003t0010g0030 |
3 | 104 | 0.0288 | -16822 | c.477 others(19): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PCDHA1_chr5_140781140_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show |
13 | 198 | 0.0657 | -16791 | c.239 others(21): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA2_chr5_140789852_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01978.hp2 others(10): Show |
a0001a0006a0010 | a0001c0001a0006c0006a0010c0010 | a0001c0001t0001a0006c0006t0001a0010c0010t0001 | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 others(10): Show |
13 | 200 | 0.0650 | -16791 | c.238 others(21): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA3_chr5_140796057_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(10): Show |
13 | 206 | 0.0631 | -16791 | c.239 others(21): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA4_chr5_140802068_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01978.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0006 a0003c0003t0001g0033 others(10): Show |
13 | 210 | 0.0619 | -16791 | c.238 others(21): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA5_chr5_140816613_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01978.hp2 others(10): Show |
a0001a0006a0011 | a0001c0001a0006c0006a0011c0012 | a0001c0001t0001a0006c0006t0001a0011c0012t0001 | a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0195 others(10): Show |
13 | 218 | 0.0596 | -16791 | c.235 others(21): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA6_chr5_140822960_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0072 others(11): Show |
14 | 234 | 0.0598 | -16791 | c.239 others(21): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA7_chr5_140829269_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01978.hp1 others(12): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 others(12): Show |
15 | 246 | 0.0610 | -16791 | c.235 others(20): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0003a0006a0012 | a0003c0003a0006c0006a0012c0010 | a0003c0003t0001a0006c0006t0001a0012c0010t0001 | a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 others(12): Show |
15 | 256 | 0.0586 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | |||
| KIR2DL1_chr19_54764793_54789322 | 54766597 | GAGAGGCC others(16435): Show |
G | exon_loss_variant | HIGH | HG00280.hp1 | a0012 | a0012c0014 | a0012c0014t0013 | a0012c0014t0013g0044 | 1 | 340 | 0.0029 | -16442 | c.-32 others(12): Show |
KIR2DL1 | ENSG00000125498.20 | transcript | ENST00000336077.11 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
| GBE1_chr3_81484703_81766645 | 81627315 | GTGTCAAG others(16269): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00597.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0103 | 1 | 302 | 0.0033 | -16276 | c.783 others(17): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/16 | chr3 | TogoVar | |||||||
| DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0004a0013a0035others(2): Show | a0004c0005a0004c0028a0013c0015others(3): Show | a0004c0005t0001a0004c0028t0002a0013c0015t0001others(3): Show | a0004c0005t0001g0002 a0004c0005t0001g0003 a0004c0005t0001g0026 others(16): Show |
27 | 280 | 0.0964 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SESTD1_chr2_179096678_179269832 | 179200620 | TATCTACA others(16204): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(28): Show | a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 others(109): Show |
113 | 272 | 0.4154 | -16211 | c.-25 others(18): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
| XKR4_chr8_55097028_55547054 | 55463588 | GTTCAAAA others(15917): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0017 | 1 | 182 | 0.0055 | -15924 | c.100 others(21): Show |
XKR4 | ENSG00000206579.10 | transcript | ENST00000327381.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ZNF786_chr7_149064641_149095718 | 149079820 | CGGCCTCC others(15891): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0044 | 1 | 278 | 0.0036 | -15898 | c.-50 others(13): Show |
ZNF786 | ENSG00000197362.15 | transcript | ENST00000491431.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
| GSTM1_chr1_109682817_109698745 | 109682998 | TTCCAGTC others(15740): Show |
T | transcript_ablation | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 95 | 255 | 0.3725 | -15747 | c.-48 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
| TUSC3_chr8_15535263_15771638 | 15544281 | GCTTCATT others(15434): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0030 | a0001c0001t0002g0227 a0001c0001t0004g0220 a0001c0001t0004g0221 others(11): Show |
14 | 370 | 0.0378 | -15441 | c.138 others(18): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PGA4_chr11_61217347_61236694 | 61221506 | CGCCCAAC others(15181): Show |
C | transcript_ablation | HIGH | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | -15188 | c.-89 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
| ANKS1B_chr12_98738974_99989936 | 99599854 | GATTTAGA others(15160): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0004 | 1 | 46 | 0.0217 | -15167 | c.127 others(21): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 9/26 | chr12 | TogoVar | |||||||
| SLC35F4_chr14_57558920_57871092 | 57666945 | TAGAAAGG others(14965): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 218 | 0.0046 | -14972 | c.104 others(19): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
| KIR3DL2_chr19_54845443_54872207 | 54852574 | CTGTCCTG others(14942): Show |
C | exon_loss_variant | HIGH | HG00741.hp2 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0060 | 1 | 440 | 0.0023 | -14949 | c.355 others(12): Show |
KIR3DL2 | ENSG00000240403.5 | transcript | ENST00000326321.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
| PGA4_chr11_61217347_61236694 | 61221770 | CGTAGGCC others(14917): Show |
C | transcript_ablation | HIGH | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | -14924 | c.-63 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
| PATJ_chr1_61737480_62168915 | 61971859 | GGTACCTG others(14878): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0009 | a0009c0054 | a0009c0054t0001 | a0009c0054t0001g0119 | 1 | 156 | 0.0064 | -14885 | c.367 others(20): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PGA4_chr11_61217347_61236694 | 61221869 | GGAGAAAG others(14818): Show |
G | transcript_ablation | HIGH | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 151 | 0.0066 | -14825 | c.-53 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
| GSTM1_chr1_109682817_109698745 | 109683926 | ATTCCACA others(14812): Show |
A | transcript_ablation | HIGH | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 21 | 270 | 0.0778 | -14819 | c.-39 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
| PGA4_chr11_61217347_61236694 | 61221906 | GAGAGAGA others(14781): Show |
G | transcript_ablation | HIGH | HG02976.hp1 HG03654.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 298 | 0.0101 | -14788 | c.-49 others(10): Show |
p.0? | PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
| PGA3_chr11_61198515_61218098 | 61203311 | TCCCCATG others(14780): Show |
T | transcript_ablation | HIGH | HG03130.hp2 | a0007 | a0007c0000 | a0007c0000t0000 | a0007c0000t0000g0000 | 1 | 244 | 0.0041 | -14787 | c.-25 others(10): Show |
p.0? | PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| CCDC171_chr9_15548043_15979037 | 15940997 | GTGCCTTC others(14760): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 264 | 0.0038 | -14767 | c.375 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73793737 | AAAATATA others(14690): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0046 |
4 | 210 | 0.0190 | -14697 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73794013 | CATCTTGG others(14690): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 210 | 0.0048 | -14697 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73785624 | GAAGGAAA others(14689): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 209 | 0.0048 | -14696 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73788187 | AGGGAGAG others(14688): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 HG03486.hp2 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0010c0012 | a0001c0001t0001a0002c0003t0001a0010c0012t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0056 others(2): Show |
6 | 210 | 0.0286 | -14695 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C2orf78_chr2_73779183_73822148 | 73791665 | CGTCTTAC others(14688): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp2 HG02055.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 others(3): Show |
10 | 197 | 0.0508 | -14695 | c.97+ others(15): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TEX26_chr13_30927656_30980500 | 30954877 | TAAGTACT others(14670): Show |
T | exon_loss_variant | HIGH | NA19012.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0224 | 1 | 412 | 0.0024 | -14677 | c.313 others(16): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| GSTM1_chr1_109682817_109698745 | 109684196 | CGGAGGGA others(14542): Show |
C | transcript_ablation | HIGH | HG02257.hp2 HG02258.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 304 | 0.0164 | -14549 | c.-36 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
| MICAL2_chr11_12105590_12268785 | 12170910 | CAGGGAAG others(14442): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0133 | 1 | 356 | 0.0028 | -14449 | c.264 others(18): Show |
MICAL2 | ENSG00000133816.19 | transcript | ENST00000683283.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18993371 | CCAGAATC others(14384): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0088 | 1 | 226 | 0.0044 | -14391 | c.21+ others(16): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
| GSTM1_chr1_109682817_109698745 | 109684397 | TTGATTGT others(14341): Show |
T | transcript_ablation | HIGH | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | -14348 | c.-34 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
| HPSE2_chr10_98452077_99240852 | 98928128 | TAACAAAT others(14235): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01109.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0072 others(29): Show |
32 | 142 | 0.2254 | -14242 | c.611 others(21): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
| NBPF19_chr1_149470045_149561361 | 149535108 | ACGTACCA others(14218): Show |
A | exon_loss_variant | HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 234 | 0.0043 | -14225 | c.836 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 70/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146073961 | CCAAGATC others(14186): Show |
A | exon_loss_variant | HIGH | HG00140.hp2 | a0031 | a0031c0123 | a0031c0123t0003 | a0031c0123t0003g0176 | 1 | 144 | 0.0069 | -14193 | c.788 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 80/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146073961 | CCAAGATC others(14186): Show |
C | exon_loss_variant | HIGH | HG04204.hp1 | a0095 | a0095c0065 | a0095c0065t0006 | a0095c0065t0006g0138 | 1 | 144 | 0.0069 | -14193 | c.788 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 80/90 | chr1 | TogoVar | |||||||
| CCSER1_chr4_90122394_91610295 | 90964406 | CATCTGAA others(14175): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0013 | 1 | 38 | 0.0263 | -14182 | c.217 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| NR5A2_chr1_200022710_200182415 | 200155890 | TCTCGAAC others(14169): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236 a0001c0002t0001g0237 |
2 | 284 | 0.0070 | -14176 | c.137 others(20): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146078626 | TCATCAAA others(14168): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0106 | a0106c0068 | a0106c0068t0006 | a0106c0068t0006g0142 | 1 | 280 | 0.0036 | -14175 | c.715 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146083394 | TAGACGCT others(14160): Show |
T | exon_loss_variant | HIGH | NA18939.hp1 NA18969.hp1 NA19078.hp1 others(2): Show |
a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0217 a0003c0002t0004g0220 a0003c0002t0004g0234 others(2): Show |
5 | 269 | 0.0186 | -14167 | c.641 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 68/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146084255 | CCATAAAA others(14154): Show |
C | exon_loss_variant | HIGH | NA18969.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0222 | 1 | 282 | 0.0035 | -14161 | c.624 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 67/90 | chr1 | TogoVar | |||||||
| QPRT_chr16_29674180_29703699 | 29680001 | AGGCTGGA others(14154): Show |
A | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 318 | 0.0031 | -14161 | c.13+ others(13): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| 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 |