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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSEN1_chr14_73131507_73228691 | 73151878 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0127 | 1 | 367 | 0.0027 | 44 | c.87+ others(59): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN2_chr1_226865616_226901098 | 226880545 | A | AGACAGCG others(37): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 107 | 0.0093 | 44 | c.-20 others(61): Show |
PSEN2 | ENSG00000143801.18 | transcript | ENST00000366783.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43185857 | C | CCCCTGAT others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(362): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0009others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(201): Show |
365 | 427 | 0.8548 | 44 | c.64+ others(57): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG5_chr19_43162743_43191536 | 43185857 | C | CCCCTGAT others(37): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 63 | 0.0159 | 44 | c.64+ others(57): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501840 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0286 | 1 | 97 | 0.0103 | 44 | c.149 others(61): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02083.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show |
7 | 189 | 0.0370 | 44 | c.228 others(61): 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(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00673.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0107 a0001c0001t0001g0112 others(16): Show |
20 | 171 | 0.1170 | 44 | c.228 others(61): 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(37): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 152 | 0.0066 | 44 | c.228 others(61): 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(37): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 152 | 0.0066 | 44 | c.228 others(61): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC3_chr11_47413775_47431439 | 47430346 | C | CTGGCTAA others(37): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 378 | 0.0026 | 44 | c.-40 others(55): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 3908 | chr11 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(37): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 |
2 | 36 | 0.0556 | 44 | c.571 others(61): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231089594 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 | 1 | 343 | 0.0029 | 44 | c.188 others(63): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD6_chr3_64005551_64028494 | 64011390 | C | CTCTAACA others(37): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02630.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0064 a0001c0001t0002g0065 others(2): Show |
7 | 424 | 0.0165 | 44 | c.996 others(59): Show |
PSMD6 | ENSG00000163636.11 | transcript | ENST00000295901.9 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53940919 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01261.hp1 others(1): Show |
a0002a0009 | a0002c0003a0009c0031 | a0002c0003t0002a0009c0031t0002 | a0002c0003t0002g0020 a0002c0003t0002g0077 a0002c0003t0002g0108 others(1): Show |
4 | 381 | 0.0105 | 44 | c.501 others(59): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSMG4_chr6_3253947_3273049 | 3260275 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 410 | 0.0024 | 44 | c.174 others(61): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTGES3L_chr17_42963103_42985080 | 42967496 | A | ATATATAA others(37): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02145.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0063 a0001c0001t0002g0072 others(1): Show |
4 | 122 | 0.0328 | 44 | c.*16 others(55): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 606 | chr17 | TogoVar | |||||||
PTGR2_chr14_73846831_73890726 | 73876483 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 199 | 0.0050 | 44 | c.349 others(59): Show |
PTGR2 | ENSG00000140043.12 | transcript | ENST00000555661.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 62 | 0.0161 | 44 | c.-2+ others(61): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 62 | 0.0161 | 44 | c.-2+ others(61): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77625468 | G | GCTCTCTC others(37): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 289 | 0.0035 | 44 | c.102 others(63): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77625472 | G | GCTCGCGC others(37): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 97 | 0.0103 | 44 | c.102 others(63): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03453.hp1 NA18747.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0071a0001c0001t0165others(1): Show | a0001c0001t0002g0129 a0001c0001t0002g0173 a0001c0001t0071g0110 others(2): Show |
5 | 66 | 0.0758 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02630.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0001c0001t0067a0002c0003t0144others(1): Show | a0001c0001t0008g0002 a0001c0001t0067g0151 a0002c0003t0144g0197 others(1): Show |
4 | 65 | 0.0615 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0025 | a0001c0025t0146 | a0001c0025t0146g0236 | 1 | 62 | 0.0161 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGGAGG others(37): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0109 | 1 | 62 | 0.0161 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0127a0001c0001t0135others(3): Show | a0001c0001t0005g0168 a0001c0001t0127g0218 a0001c0001t0135g0228 others(3): Show |
6 | 155 | 0.0387 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02970.hp1 HG04184.hp2 NA19043.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0148a0002c0003t0180a0002c0003t0183 | a0001c0002t0148g0239 a0002c0003t0180g0264 a0002c0003t0183g0260 |
3 | 152 | 0.0197 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGGAGG others(37): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0030 a0001c0001t0042g0029 |
2 | 151 | 0.0132 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402675 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0081 | a0001c0002t0081g0137 | 1 | 198 | 0.0051 | 44 | c.581 others(59): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN18_chr2_130351056_130380405 | 130361504 | T | TTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02155.hp2 NA18974.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0012 | 4 | 371 | 0.0108 | 44 | c.414 others(61): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN18_chr2_130351056_130380405 | 130361512 | C | CTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0092 | 1 | 119 | 0.0084 | 44 | c.414 others(61): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN18_chr2_130351056_130380405 | 130361516 | T | TTCTCTTT others(37): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18988.hp2 NA19083.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0022 a0002c0003t0003g0088 |
3 | 373 | 0.0080 | 44 | c.414 others(61): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN23_chr3_47376021_47418435 | 47417894 | G | GGTGAGAG others(37): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(99): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0006a0002c0004others(5): Show | a0001c0001t0001a0001c0006t0001a0002c0004t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(79): Show |
102 | 122 | 0.8361 | 44 | c.*47 others(55): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 4460 | chr3 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 | 1 | 58 | 0.0172 | 44 | c.859 others(61): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 58 | 0.0172 | 44 | c.859 others(61): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75537753 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 89 | 0.0112 | 44 | c.64- others(61): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8353858 | G | GTATATGT others(37): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0018 | a0001c0001t0013g0022 a0001c0004t0018g0015 |
2 | 33 | 0.0606 | 44 | c.466 others(65): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 39/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10031647 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0010 | a0001c0010t0017 | a0001c0010t0017g0016 | 1 | 12 | 0.0833 | 44 | c.-47 others(63): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10031647 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0027 | 1 | 12 | 0.0833 | 44 | c.-47 others(63): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10031647 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0008 | 1 | 12 | 0.0833 | 44 | c.-47 others(63): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61621051 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 34 | 0.0294 | 44 | c.85+ others(61): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61738296 | A | ATGTGTAT others(37): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 42 | 0.0238 | 44 | c.86- others(61): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62281538 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0070 | 1 | 8 | 0.1250 | 44 | c.376 others(59): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7819359 | G | GGAAGAAG others(37): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00673.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 others(31): Show |
34 | 80 | 0.4250 | 44 | c.196 others(63): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086749 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0061 | 1 | 35 | 0.0286 | 44 | c.384 others(61): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PUDP_chrX_7043920_7153153 | 7044728 | G | GTAGGGCC others(37): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0100 | 1 | 258 | 0.0039 | 44 | c.*55 others(55): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 4191 | chrX | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 6 | 0.1667 | 44 | c.195 others(63): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUM3_chr9_2799152_2849095 | 2821443 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0018 | a0018c0021 | a0018c0021t0007 | a0018c0021t0007g0312 | 1 | 177 | 0.0056 | 44 | c.118 others(63): Show |
PUM3 | ENSG00000080608.10 | transcript | ENST00000397885.3 | protein_coding | 12/17 | chr9 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(37): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213 a0001c0001t0002g0300 a0001c0001t0002g0301 |
3 | 8 | 0.3750 | 44 | c.*22 others(55): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109780 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 378 | 0.0026 | 44 | c.584 others(61): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar |