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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRRG1_chrX_37344364_37462291 | 37376551 | G | GCATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0104 | 1 | 216 | 0.0046 | 22 | c.-42 others(41): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | chrX | TogoVar | |||||||
PRRG1_chrX_37344364_37462291 | 37376551 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01109.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0045 others(19): Show |
24 | 216 | 0.1111 | 22 | c.-42 others(41): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170664088 | C | CCTCTCTC others(15): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02132.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0105 a0001c0001t0002g0059 a0001c0001t0002g0095 others(7): Show |
10 | 356 | 0.0281 | 22 | c.-13 others(31): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 42 | chr1 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0003g0062 a0001c0001t0003g0173 a0001c0001t0008g0015 others(2): Show |
5 | 356 | 0.0140 | 22 | c.241 others(39): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129673652 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 358 | 0.0028 | 22 | c.259 others(39): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129684532 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 358 | 0.0028 | 22 | c.259 others(41): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129715750 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 358 | 0.0028 | 22 | c.260 others(39): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRSS38_chr1_227810675_227851470 | 227845115 | T | TGTGGTGG others(15): Show |
intron_variant | MODIFIER | HG03491.hp1 NA19070.hp2 |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0191 a0001c0017t0001g0192 |
2 | 450 | 0.0044 | 22 | c.584 others(37): Show |
PRSS38 | ENSG00000185888.6 | transcript | ENST00000366757.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS41_chr16_2793470_2810304 | 2795149 | T | TATACATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 426 | 0.0047 | 22 | c.-33 others(33): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3320 | chr16 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 338 | 0.0030 | 22 | c.340 others(39): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24906549 | T | TGTGCCTT others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0289 a0001c0001t0008g0309 |
2 | 338 | 0.0059 | 22 | c.339 others(41): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55635071 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02622.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033a0001c0001t0034 | a0001c0001t0002g0257 a0001c0001t0033g0098 a0001c0001t0033g0103 others(1): Show |
4 | 284 | 0.0141 | 22 | c.262 others(41): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55645433 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG02074.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0019a0001c0001t0037others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0155 others(9): Show |
12 | 284 | 0.0423 | 22 | c.204 others(41): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55738071 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01517.hp1 NA19043.hp1 |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0004a0001c0001t0109a0008c0018t0002 | a0001c0001t0004g0255 a0001c0001t0109g0232 a0008c0018t0002g0254 |
3 | 284 | 0.0106 | 22 | c.397 others(39): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 842413 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01109.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0005c0009t0001 | a0001c0001t0001g0075 a0002c0002t0001g0007 a0002c0002t0001g0077 others(1): Show |
6 | 415 | 0.0145 | 22 | c.62- others(37): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76774450 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 | 1 | 240 | 0.0042 | 22 | c.756 others(41): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76774452 | T | TTTTTTAT others(15): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG03491.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0081 a0002c0002t0001g0211 a0002c0002t0002g0136 |
3 | 240 | 0.0125 | 22 | c.756 others(41): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76879903 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0168 a0002c0002t0009g0169 |
2 | 240 | 0.0083 | 22 | c.37- others(39): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03490.hp1 HG03654.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0035others(3): Show | a0001c0001t0001g0143 a0001c0001t0004g0051 a0001c0001t0035g0120 others(3): Show |
6 | 300 | 0.0200 | 22 | c.-18 others(33): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PSAP_chr10_71811298_71856251 | 71851703 | C | CGGGTTTC others(15): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 430 | 0.0070 | 22 | c.-48 others(31): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 453 | chr10 | TogoVar | |||||||
PSD2_chr5_139790808_139849466 | 139830608 | C | CTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0005 | 2 | 276 | 0.0073 | 22 | c.127 others(41): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830626 | C | CTCTTTCT others(15): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0086 |
2 | 276 | 0.0073 | 22 | c.127 others(41): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18759092 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01978.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0082 | a0003c0004t0001g0044 a0003c0004t0082g0215 |
2 | 228 | 0.0088 | 22 | c.217 others(41): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18803389 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0019a0002c0011t0002 | a0001c0002t0019g0182 a0002c0011t0002g0127 |
2 | 228 | 0.0088 | 22 | c.191 others(41): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18821684 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03710.hp2 NA18964.hp2 |
a0001a0002a0013 | a0001c0001a0002c0003a0013c0033 | a0001c0001t0019a0002c0003t0085a0013c0033t0016 | a0001c0001t0019g0186 a0002c0003t0085g0227 a0013c0033t0016g0051 |
3 | 228 | 0.0132 | 22 | c.163 others(43): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0022 | a0001c0022t0006 | a0001c0022t0006g0196 | 1 | 228 | 0.0044 | 22 | c.22- others(39): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0223 | 1 | 228 | 0.0044 | 22 | c.22- others(39): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSEN2_chr1_226865616_226901098 | 226880545 | A | AGACAGCG others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(119): Show |
283 | 416 | 0.6803 | 22 | c.-20 others(39): Show |
PSEN2 | ENSG00000143801.18 | transcript | ENST00000366783.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PSG1_chr19_42861464_42884713 | 42878406 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp1 NA18906.hp2 |
a0011 | a0011c0011 | a0011c0011t0004 | a0011c0011t0004g0022 | 3 | 408 | 0.0074 | 22 | c.65- others(35): Show |
PSG1 | ENSG00000231924.10 | transcript | ENST00000436291.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG2_chr19_43059209_43087701 | 43082880 | G | GACACACA others(15): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 424 | 0.0024 | 22 | c.-33 others(31): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 180 | chr19 | TogoVar | |||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00673.hp2 others(14): Show |
a0001a0004a0012 | a0001c0001a0004c0004a0012c0026 | a0001c0001t0001a0001c0001t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0001g0145 others(8): Show |
17 | 430 | 0.0395 | 22 | c.430 others(39): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG6_chr19_42897086_42922894 | 42918104 | G | GACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 414 | 0.0024 | 22 | c.-33 others(31): Show |
PSG6 | ENSG00000170848.16 | transcript | ENST00000187910.7 | protein_coding | 211 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933266 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01361.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0163 a0001c0001t0001g0313 a0002c0003t0003g0333 |
3 | 416 | 0.0072 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 416 | 0.0024 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp2 NA19077.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0287 a0001c0002t0002g0137 |
2 | 416 | 0.0048 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 416 | 0.0024 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03942.hp2 HG04115.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0116 a0001c0005t0002g0140 |
2 | 416 | 0.0048 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18967.hp2 NA19088.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0002 | a0001c0002t0002g0015 a0001c0007t0002g0134 |
3 | 416 | 0.0072 | 22 | c.430 others(39): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15497325 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01346.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0001 | a0001c0002t0004g0033 a0001c0002t0004g0035 a0001c0002t0004g0044 others(3): Show |
6 | 300 | 0.0200 | 22 | c.150 others(39): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501840 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 a0001c0001t0008g0027 |
2 | 300 | 0.0067 | 22 | c.149 others(39): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501866 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 300 | 0.0033 | 22 | c.149 others(39): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049789 | G | GAAGAGAG others(15): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0154 | 1 | 420 | 0.0024 | 22 | c.853 others(39): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSMA1_chr11_14499876_14525386 | 14508561 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0115 |
3 | 412 | 0.0073 | 22 | c.625 others(37): Show |
PSMA1 | ENSG00000129084.18 | transcript | ENST00000396394.7 | protein_coding | 8/9 | chr11 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0092 a0001c0001t0001g0277 |
6 | 332 | 0.0181 | 22 | c.228 others(39): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0124 others(3): Show |
9 | 332 | 0.0271 | 22 | c.228 others(39): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMA6_chr14_35287382_35322493 | 35299327 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 380 | 0.0026 | 22 | c.76+ others(37): Show |
PSMA6 | ENSG00000100902.11 | transcript | ENST00000261479.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364958 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01975.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 a0001c0001t0002g0265 |
2 | 382 | 0.0052 | 22 | c.756 others(37): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMC4_chr19_39966165_39986764 | 39967857 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 358 | 0.0028 | 22 | c.-33 others(33): Show |
PSMC4 | ENSG00000013275.8 | transcript | ENST00000157812.7 | protein_coding | 3307 | chr19 | TogoVar | |||||||
PSMD11_chr17_32439510_32488319 | 32459115 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0171 | 1 | 290 | 0.0035 | 22 | c.318 others(39): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161327946 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02897.hp1 NA18906.hp1 NA18975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0202 a0001c0001t0002g0014 a0001c0001t0002g0063 others(3): Show |
6 | 268 | 0.0224 | 22 | c.48+ others(37): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |