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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTUD7A_chr15_31470398_31875673 | 31510809 | TACATATG others(87): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0222 | 1 | 238 | 0.0042 | -94 | c.894 others(111): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510857 | CATATATG others(87): Show |
C | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 186 | 0.0054 | -94 | c.894 others(111): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269867 | GAGAAAGA others(87): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0047 a0001c0001t0002g0024 |
2 | 114 | 0.0175 | -94 | c.614 others(113): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105327795 | ACTCACCG others(87): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 208 | 0.0048 | -94 | c.119 others(113): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289194 | TAGCATAT others(87): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 232 | 0.0043 | -94 | c.295 others(115): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300630 | TTTCTTTC others(87): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 268 | 0.0037 | -94 | c.-27 others(113): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605630 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0026 | 1 | 98 | 0.0102 | -94 | c.223 others(113): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402291 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0109 | 1 | 205 | 0.0049 | -94 | c.844 others(115): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976907 | CCAACCCC others(87): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0022 | a0003c0022t0003 | a0003c0022t0003g0067 | 1 | 392 | 0.0026 | -94 | c.215 others(111): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977190 | CACCAACC others(87): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01358.hp2 others(17): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0004c0021others(2): Show | a0001c0001t0001a0001c0001t0010a0004c0004t0002others(4): Show | a0001c0001t0001g0044 a0001c0001t0010g0098 a0004c0004t0002g0012 others(8): Show |
20 | 300 | 0.0667 | -94 | c.215 others(111): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106848 | CGTAGTTC others(87): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0001 | 1 | 391 | 0.0026 | -94 | c.*18 others(107): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1453 | chr22 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7199806 | TGGACGGG others(87): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(103): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 others(75): Show |
106 | 426 | 0.2488 | -94 | c.551 others(109): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3115289 | GACAGGAC others(87): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0238 others(2): Show |
5 | 397 | 0.0126 | -94 | c.137 others(113): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3115331 | CGGAGGAC others(87): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(78): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0002t0002g0030 others(78): Show |
81 | 274 | 0.2956 | -94 | c.137 others(113): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229139021 | AAGAAAGA others(87): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 246 | 0.0041 | -94 | c.177 others(113): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184626 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 253 | 0.0040 | -94 | c.31- others(111): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184658 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp2 HG03834.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0161 a0001c0001t0002g0007 others(8): Show |
11 | 243 | 0.0453 | -94 | c.31- others(111): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PINX1_chr8_10759961_10844875 | 10833548 | AGACGACT others(87): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0319 |
2 | 329 | 0.0061 | -94 | c.130 others(109): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314965 | AGGAAGGA others(87): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0038 | 1 | 250 | 0.0040 | -94 | c.349 others(113): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402043 | CCCCCGGC others(87): Show |
C | intron_variant | MODIFIER | HG02027.hp2 NA19005.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0072 a0001c0009t0001g0122 |
2 | 205 | 0.0098 | -94 | c.173 others(112): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402366 | GGCTCCAC others(87): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0015 | a0015c0026 | a0015c0026t0004 | a0015c0026t0004g0092 | 1 | 211 | 0.0047 | -94 | c.173 others(111): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764851 | GAAAGAAA others(87): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 292 | 0.0034 | -94 | c.-31 others(113): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171780097 | TATACATA others(87): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp2 HG02615.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0021a0002c0003 | a0001c0002t0002a0001c0002t0004a0001c0002t0016others(3): Show | a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0115 others(12): Show |
15 | 292 | 0.0514 | -94 | c.-32 others(113): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 164518 | CAGTAATG others(87): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01515.hp1 others(3): Show |
a0003a0031 | a0003c0009a0003c0056a0031c0060 | a0003c0009t0007a0003c0056t0007a0031c0060t0020 | a0003c0009t0007g0050 a0003c0009t0007g0087 a0003c0009t0007g0091 others(3): Show |
6 | 186 | 0.0323 | -94 | c.347 others(112): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976907 | CCAACCCC others(87): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0019 | a0003c0019t0004 | a0003c0019t0004g0080 | 1 | 410 | 0.0024 | -94 | c.*23 others(105): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1043 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977190 | CACCAACC others(87): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01358.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0010a0001c0012a0001c0049others(5): Show | a0001c0010t0008a0001c0010t0018a0001c0012t0008others(6): Show | a0001c0010t0008g0153 a0001c0010t0018g0045 a0001c0012t0008g0012 others(11): Show |
20 | 299 | 0.0669 | -94 | c.*26 others(105): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1326 | chr1 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349132 | TTCTTTCT others(87): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(227): Show |
246 | 434 | 0.5668 | -94 | c.*31 others(105): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2322 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137536802 | CACTTCAT others(87): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA18747.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0084 |
3 | 186 | 0.0161 | -94 | c.747 others(111): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108490187 | TACAGGTT others(87): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0078 |
2 | 338 | 0.0059 | -94 | c.168 others(113): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 8/10 | chr7 | TogoVar | |||||||
POLD1_chr19_50379347_50423014 | 50395139 | AGCTGGGT others(87): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0007a0001c0013a0002c0002others(11): Show | a0001c0007t0001a0001c0013t0001a0002c0002t0001others(11): Show | a0001c0007t0001g0001 a0001c0007t0001g0051 a0001c0007t0001g0052 others(79): Show |
85 | 334 | 0.2545 | -94 | c.-1- others(109): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809309 | GATAGATA others(87): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01993.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0025 | a0001c0001t0015g0189 a0002c0002t0025g0027 |
2 | 318 | 0.0063 | -94 | c.79- others(111): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 340026 | GGGGGGGG others(87): Show |
G | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 24 | 0.0417 | -94 | c.135 others(111): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 354067 | GCCCAAAG others(87): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0024 | 1 | 24 | 0.0417 | -94 | c.511 others(111): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 2/12 | chrX | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91507389 | GTATATGT others(87): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 254 | 0.0039 | -94 | c.142 others(111): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50339614 | TGGTATGT others(87): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0032 | a0014c0032t0003 | a0014c0032t0003g0283 | 1 | 338 | 0.0030 | -94 | c.-40 others(105): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3712 | chr22 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41814151 | TCTAGTGT others(87): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0217 | 1 | 404 | 0.0025 | -94 | c.239 others(113): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93737502 | CAACAGAG others(87): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0353 a0001c0003t0002g0180 a0001c0003t0002g0184 others(3): Show |
6 | 395 | 0.0152 | -94 | c.230 others(109): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122409 | TTAGGGTC others(87): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 284 | 0.0035 | -94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122959 | AGGGTCAT others(87): Show |
A | intron_variant | MODIFIER | NA18975.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 a0001c0002t0001g0218 |
2 | 281 | 0.0071 | -94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123183 | AGGGTCAC others(87): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 284 | 0.0035 | -94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36351564 | TATATATT others(87): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02293.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0002t0001a0002c0005t0001 | a0001c0001t0002g0077 a0001c0002t0001g0083 a0002c0005t0001g0038 |
3 | 270 | 0.0111 | -94 | c.-12 others(115): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75504081 | GGGATCAG others(87): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 324 | 0.0031 | -94 | c.968 others(111): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132693848 | TCCCTTGC others(87): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show |
5 | 246 | 0.0203 | -94 | c.237 others(111): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248657 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 2 | 378 | 0.0053 | -94 | c.-53 others(113): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136221103 | AGGCAAAG others(87): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0196 a0001c0001t0020g0282 |
2 | 390 | 0.0051 | -94 | c.821 others(109): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136221141 | TCCACGCA others(87): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0251 a0001c0001t0014g0248 a0001c0001t0014g0249 |
3 | 390 | 0.0077 | -94 | c.821 others(109): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113974180 | CTGGGGCG others(87): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 59 | 0.0169 | -94 | c.*50 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3602 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114014052 | GTCTGTCT others(87): Show |
G | intron_variant | MODIFIER | HG01993.hp2 NA18954.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030 |
3 | 66 | 0.0455 | -94 | c.140 others(111): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 14/23 | chr13 | TogoVar | |||||||
RASSF3_chr12_64605495_64702564 | 64640643 | CATTTTAT others(87): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0162 | 1 | 368 | 0.0027 | -94 | c.111 others(113): Show |
RASSF3 | ENSG00000153179.14 | transcript | ENST00000542104.6 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7008658 | TTCCTCCC others(87): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01192.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0059 others(14): Show |
17 | 68 | 0.2500 | -94 | c.-15 others(113): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |