| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(698): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0261 | 1 | 42 | 0.0238 | 705 | c.844 others(722): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(698): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0057 a0001c0001t0015g0083 |
2 | 120 | 0.0167 | 705 | c.181 others(724): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
| CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(698): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0217 | 1 | 179 | 0.0056 | 705 | c.*52 others(716): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | |||||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(698): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 164 | 0.0061 | 705 | c.923 others(724): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 399997 | T | TCCACCAT others(698): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0050 | a0001c0050t0004 | a0001c0050t0004g0059 | 1 | 196 | 0.0051 | 705 | c.323 others(722): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(698): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 92 | 0.0109 | 705 | c.551 others(724): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EML1_chr14_99788413_99947060 | 99927975 | G | GTGGTGGA others(698): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0025 | 1 | 272 | 0.0037 | 705 | c.190 others(724): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(698): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0257 | 1 | 31 | 0.0323 | 705 | c.-76 others(722): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(698): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0208 others(6): Show |
9 | 39 | 0.2308 | 705 | c.-76 others(722): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27999038 | T | TATAAATA others(698): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 119 | 0.0084 | 705 | c.*50 others(716): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4235 | chr13 | TogoVar | |||||||
| FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCTT others(698): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0016 | 1 | 161 | 0.0062 | 705 | c.193 others(724): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(698): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0209 | 1 | 4 | 0.2500 | 705 | c.126 others(722): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(698): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 149 | 0.0067 | 705 | c.804 others(722): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322664 | T | TGGAATAT others(698): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 a0002c0002t0002g0239 |
2 | 259 | 0.0077 | 705 | c.-23 others(716): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | |||||||
| INS_chr11_2154779_2166209 | 2161763 | C | CACCCCTG others(698): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 330 | 0.0030 | 705 | c.-61 others(714): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 555 | chr11 | TogoVar | |||||||
| KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(698): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0108 | 1 | 241 | 0.0041 | 705 | c.430 others(720): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
| LGR6_chr1_202188799_202324761 | 202205097 | T | TCCACACA others(698): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03579.hp2 |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0003a0004c0003t0003 | a0002c0002t0003g0015 a0004c0003t0003g0016 |
2 | 253 | 0.0079 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0004a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 others(13): Show |
16 | 25 | 0.6400 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0198 | 1 | 10 | 0.1000 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02155.hp1 NA19068.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0002c0002t0002a0005c0010t0001 | a0001c0001t0001g0102 a0002c0002t0002g0138 a0005c0010t0001g0103 |
3 | 12 | 0.2500 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03688.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0163 a0003c0004t0001g0164 |
2 | 11 | 0.1818 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0002a0004a0006 | a0002c0032a0004c0003a0006c0009 | a0002c0032t0002a0004c0003t0003a0006c0009t0004 | a0002c0032t0002g0260 a0004c0003t0003g0052 a0006c0009t0004g0017 others(1): Show |
4 | 13 | 0.3077 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(698): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0162 | 1 | 10 | 0.1000 | 705 | c.212 others(724): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471488 | A | ATATATAA others(698): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 |
2 | 177 | 0.0113 | 705 | c.125 others(722): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(698): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0003a0001c0001t0050a0002c0002t0002others(4): Show | a0001c0001t0003g0002 a0001c0001t0050g0125 a0002c0002t0002g0003 others(10): Show |
22 | 103 | 0.2136 | 705 | c.*23 others(716): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(698): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 NA18977.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0003 a0002c0002t0012g0020 |
2 | 83 | 0.0241 | 705 | c.*23 others(716): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(698): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0136 | 1 | 82 | 0.0122 | 705 | c.*23 others(716): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(698): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 8 | 0.1250 | 705 | c.250 others(720): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(698): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 4 | 0.2500 | 705 | c.114 others(724): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(698): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 4 | 0.2500 | 705 | c.114 others(724): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(698): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 8 | 0.1250 | 705 | c.293 others(724): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(698): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 8 | 0.1250 | 705 | c.293 others(724): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MTIF3_chr13_27430643_27455564 | 27430708 | G | GACAAAAA others(698): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 412 | 0.0024 | 705 | c.*49 others(716): Show |
MTIF3 | ENSG00000122033.15 | transcript | ENST00000381120.8 | protein_coding | 4934 | chr13 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195776415 | C | CCATACCT others(698): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0006 | a0006c0104 | a0006c0104t0002 | a0006c0104t0002g0157 | 1 | 193 | 0.0052 | 705 | c.129 others(726): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195776466 | C | CTTCCGCA others(698): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0033 | a0033c0130 | a0033c0130t0002 | a0033c0130t0002g0174 | 1 | 247 | 0.0040 | 705 | c.129 others(726): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
| NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(698): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0052 a0001c0001t0010g0053 |
2 | 36 | 0.0556 | 705 | c.474 others(724): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(698): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0111 | 1 | 8 | 0.1250 | 705 | c.140 others(722): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(698): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(88): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0275 others(85): Show |
91 | 98 | 0.9286 | 705 | c.140 others(722): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(698): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01993.hp1 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0052 a0001c0009t0002g0103 a0001c0009t0002g0128 |
3 | 10 | 0.3000 | 705 | c.140 others(722): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(698): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 2 | 0.5000 | 705 | c.730 others(722): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 952163 | A | AGGTCACA others(698): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 237 | 0.0042 | 705 | c.360 others(724): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTTC others(698): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 98 | 0.0102 | 705 | c.773 others(720): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811344 | C | CCCTTCCC others(698): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0043a0001c0001t0058 | a0001c0001t0025g0121 a0001c0001t0043g0117 a0001c0001t0058g0097 |
3 | 39 | 0.0769 | 705 | c.773 others(720): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(698): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0130 | 1 | 50 | 0.0200 | 705 | c.129 others(722): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
| PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(698): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03195.hp2 |
a0005a0031 | a0005c0042a0031c0062 | a0005c0042t0025a0031c0062t0023 | a0005c0042t0025g0262 a0031c0062t0023g0199 |
2 | 141 | 0.0142 | 705 | c.*48 others(716): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TAATTATA others(698): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 25 | 0.0400 | 705 | c.862 others(722): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(698): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0004 | a0004c0041 | a0004c0041t0001 | a0004c0041t0001g0077 | 1 | 24 | 0.0417 | 705 | c.147 others(722): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 100 | 0.0100 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 100 | 0.0100 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(698): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 a0001c0001t0003g0180 |
2 | 101 | 0.0198 | 705 | c.907 others(722): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |