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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKCB_chr16_23830983_24225611 | 24123550 | A | AGGTAGTG others(41): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0122 | 1 | 146 | 0.0068 | 48 | c.919 others(63): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906078 | C | CCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 311 | 0.0032 | 48 | c.176 others(65): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906081 | C | CCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0146 | 1 | 263 | 0.0038 | 48 | c.176 others(65): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906084 | C | CCTCCTCC others(41): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0055 | 1 | 124 | 0.0081 | 48 | c.176 others(65): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCH_chr14_61316579_61555976 | 61428112 | C | CACATATA others(41): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0188 | 1 | 84 | 0.0119 | 48 | c.428 others(67): Show |
PRKCH | ENSG00000027075.17 | transcript | ENST00000332981.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121677 | G | GTTACTTA others(41): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0015 a0001c0003t0001g0155 |
2 | 262 | 0.0076 | 48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123032 | G | GGTGGTAG others(41): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0194 | 1 | 274 | 0.0036 | 48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124171 | G | GGTGGTGG others(41): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 281 | 0.0036 | 48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124261 | G | GGTAGTTA others(41): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 279 | 0.0036 | 48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51115372 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 18 | 0.0556 | 48 | c.312 others(67): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51392914 | A | ACCCCCAC others(41): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0058 |
2 | 63 | 0.0317 | 48 | c.479 others(67): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162011414 | T | TTATATTT others(41): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 13 | 0.0769 | 48 | c.619 others(67): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639461 | G | GTAGATGG others(41): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 225 | 0.0044 | 48 | c.719 others(65): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0188 | 1 | 118 | 0.0085 | 48 | c.116 others(67): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 118 | 0.0085 | 48 | c.116 others(67): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35172490 | T | TCCTCTCT others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00741.hp1 others(21): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0085 a0001c0001t0003g0076 a0001c0001t0003g0081 others(21): Show |
24 | 211 | 0.1137 | 48 | c.116 others(67): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154293 | A | AGGGCGCG others(41): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG03098.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0128 a0001c0001t0002g0187 others(6): Show |
9 | 130 | 0.0692 | 48 | c.-43 others(59): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4354 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113162388 | C | CCCCACAT others(41): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 376 | 0.0027 | 48 | c.260 others(63): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0062 | 1 | 155 | 0.0065 | 48 | c.*79 others(59): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351611 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 251 | 0.0040 | 48 | c.-12 others(69): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420451 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0190 | 1 | 198 | 0.0051 | 48 | c.-51 others(65): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420453 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 108 | 0.0093 | 48 | c.-51 others(65): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18957.hp2 NA18969.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0014a0004c0004t0001 | a0001c0001t0001g0148 a0001c0001t0014g0149 a0004c0004t0001g0050 |
3 | 67 | 0.0448 | 48 | c.665 others(67): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS2_chr7_142765970_142779560 | 142766160 | T | TGTGGGTC others(41): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 48 | c.-48 others(59): Show |
PRSS2 | ENSG00000275896.7 | transcript | ENST00000539842.6 | protein_coding | 4809 | chr7 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2795141 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 408 | 0.0025 | 48 | c.-33 others(59): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3328 | chr16 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2795223 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG03041.hp1 NA18906.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0060 a0003c0006t0001g0025 |
3 | 420 | 0.0071 | 48 | c.-32 others(59): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3246 | chr16 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 844394 | C | CCCCTGCC others(41): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 414 | 0.0024 | 48 | c.369 others(63): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 26 | 0.0385 | 48 | c.-18 others(59): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0068 | 1 | 26 | 0.0385 | 48 | c.-18 others(59): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PRXL2B_chr1_2581777_2596468 | 2592307 | C | CCCCCCTC others(41): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0007g0004 |
7 | 412 | 0.0170 | 48 | c.*28 others(59): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 840 | chr1 | TogoVar | |||||||
PRXL2B_chr1_2581777_2596468 | 2592606 | A | ATGCCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0007g0004 |
8 | 410 | 0.0195 | 48 | c.*31 others(59): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 1139 | chr1 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0328 | 1 | 156 | 0.0064 | 48 | c.870 others(65): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0026 | 1 | 229 | 0.0044 | 48 | c.127 others(67): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73184108 | C | CCCCCCCA others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(25): Show |
28 | 368 | 0.0761 | 48 | c.481 others(65): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0126 a0001c0001t0001g0127 |
3 | 185 | 0.0162 | 48 | c.228 others(65): 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(41): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0160 others(22): Show |
30 | 181 | 0.1657 | 48 | c.228 others(65): 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(41): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 a0001c0001t0001g0239 |
2 | 153 | 0.0131 | 48 | c.228 others(65): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTGT others(41): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 35 | 0.0286 | 48 | c.571 others(65): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53940966 | T | TAATACAT others(41): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 371 | 0.0027 | 48 | c.501 others(63): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSORS1C1_chr6_31109800_31145092 | 31140628 | A | AAAAATAA others(41): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0252 | 1 | 423 | 0.0024 | 48 | c.*69 others(57): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 537 | chr6 | TogoVar | |||||||
PSORS1C2_chr6_31132534_31144066 | 31140628 | A | AAAAATAA others(41): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 434 | 0.0023 | 48 | c.-16 others(59): Show |
PSORS1C2 | ENSG00000204538.4 | transcript | ENST00000259845.5 | protein_coding | 1563 | chr6 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 45992566 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0126 | 1 | 314 | 0.0032 | 48 | c.742 others(63): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 10/14 | chr18 | TogoVar | |||||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 97 | 0.0103 | 48 | c.905 others(65): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTCHD4_chr6_47851673_48116197 | 48098318 | T | TTTCTTCT others(41): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0113 | 1 | 139 | 0.0072 | 48 | c.-97 others(69): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 485741 | T | TGCGCAGG others(41): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG01123.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0151 a0001c0001t0001g0153 others(23): Show |
34 | 213 | 0.1596 | 48 | c.436 others(63): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 485743 | C | TGCAGGCG others(41): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02683.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 |
3 | 344 | 0.0087 | 48 | c.436 others(65): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 485840 | G | GCAGGCGA others(41): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 a0001c0002t0001g0140 |
2 | 344 | 0.0058 | 48 | c.436 others(65): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 485950 | A | ACAGTGCA others(41): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 2 | 339 | 0.0059 | 48 | c.436 others(63): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTGES2_chr9_128115693_128132729 | 128118835 | G | GTGCAGGG others(41): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0060 |
2 | 127 | 0.0157 | 48 | c.*23 others(59): Show |
PTGES2 | ENSG00000148334.16 | transcript | ENST00000338961.11 | protein_coding | 1857 | chr9 | TogoVar | |||||||
PTGES2_chr9_128115693_128132729 | 128118835 | G | GTGCAGGG others(41): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(34): Show |
218 | 343 | 0.6356 | 48 | c.*23 others(59): Show |
PTGES2 | ENSG00000148334.16 | transcript | ENST00000338961.11 | protein_coding | 1857 | chr9 | TogoVar |