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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHOSPHO1_chr17_49218366_49235787 | 49230895 | CCCCGGAG others(25): Show |
C | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -32 | c.-52 others(41): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 109 | chr17 | TogoVar | |||||||
PHOSPHO1_chr17_49218366_49235787 | 49233149 | CCATCCCC others(25): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 418 | 0.0024 | -32 | c.-27 others(43): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 2363 | chr17 | TogoVar | |||||||
PHPT1_chr9_136844409_136856024 | 136848881 | GCCTTCGG others(25): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 342 | 0.0058 | -32 | c.-54 others(41): Show |
PHPT1 | ENSG00000054148.18 | transcript | ENST00000247665.12 | protein_coding | 527 | chr9 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642822 | CCTTCCTT others(25): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0086 | 1 | 348 | 0.0029 | -32 | c.435 others(49): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011860 | TTTGGTGT others(25): Show |
T | intron_variant | MODIFIER | HG02280.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0153 |
2 | 270 | 0.0074 | -32 | c.28- others(47): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4036508 | ACACACAT others(25): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0004 | a0001c0001t0001g0097 a0001c0003t0003g0218 a0001c0003t0004g0217 |
3 | 332 | 0.0090 | -32 | c.114 others(49): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 85968947 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01069.hp2 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 others(14): Show |
18 | 40 | 0.4500 | -32 | c.194 others(51): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 19/19 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139025 | AAGAAAGA others(25): Show |
A | intron_variant | MODIFIER | HG02896.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0200 a0001c0001t0003g0029 |
2 | 237 | 0.0084 | -32 | c.177 others(51): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720409 | GTATGTGT others(25): Show |
G | intron_variant | MODIFIER | HG03041.hp1 NA18522.hp2 |
a0013 | a0013c0057a0013c0083 | a0013c0057t0002a0013c0083t0002 | a0013c0057t0002g0113 a0013c0083t0002g0127 |
2 | 113 | 0.0177 | -32 | c.503 others(51): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720415 | GTATGTAT others(25): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp2 HG02280.hp2 others(3): Show |
a0002a0007a0011others(2): Show | a0002c0001a0007c0004a0011c0085others(2): Show | a0002c0001t0001a0007c0004t0001a0011c0085t0001others(2): Show | a0002c0001t0001g0047 a0007c0004t0001g0120 a0007c0004t0001g0152 others(3): Show |
6 | 145 | 0.0414 | -32 | c.503 others(51): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77189726 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01258.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0220 |
2 | 308 | 0.0065 | -32 | c.239 others(51): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77189728 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01433.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0007 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0131 others(20): Show |
24 | 359 | 0.0669 | -32 | c.239 others(51): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62040124 | CCATGTTT others(25): Show |
C | downstream_gene_variant | MODIFIER | NA18944.hp2 NA18994.hp1 |
a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0285 a0001c0008t0006g0297 |
2 | 340 | 0.0059 | -32 | c.*57 others(43): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 1039 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62167286 | ATGTGTGT others(25): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01516.hp1 HG02572.hp2 others(3): Show |
a0004 | a0004c0006a0004c0007 | a0004c0006t0013a0004c0006t0027a0004c0007t0026 | a0004c0006t0013g0010 a0004c0006t0013g0011 a0004c0006t0013g0012 others(3): Show |
6 | 23 | 0.2609 | -32 | c.-23 others(51): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 1/30 | chr18 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631721 | CCATATAT others(25): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 318 | 0.0031 | -32 | c.529 others(49): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631722 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 292 | 0.0034 | -32 | c.529 others(49): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631755 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | 311 | 0.0064 | -32 | c.529 others(49): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631771 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 308 | 0.0032 | -32 | c.529 others(49): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGX_chr3_196707377_196741007 | 196732232 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0040 | 1 | 413 | 0.0024 | -32 | c.633 others(49): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIK3AP1_chr10_96588315_96725514 | 96597308 | TTCCTTCC others(25): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0232 | 1 | 254 | 0.0039 | -32 | c.236 others(51): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96612966 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG03471.hp1 |
a0001a0002 | a0001c0009a0002c0008 | a0001c0009t0008a0002c0008t0008 | a0001c0009t0008g0235 a0002c0008t0008g0077 |
2 | 252 | 0.0079 | -32 | c.201 others(51): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17181603 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01070.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0130 a0001c0001t0002g0153 a0001c0001t0003g0007 others(8): Show |
11 | 95 | 0.1158 | -32 | c.-65 others(51): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18559799 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0108 | 1 | 172 | 0.0058 | -32 | c.359 others(51): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18559803 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0034 | a0004c0034t0001 | a0004c0034t0001g0140 | 1 | 163 | 0.0061 | -32 | c.359 others(51): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650686 | GTGTGTGT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG03491.hp2 HG03669.hp1 |
a0002a0003 | a0002c0024a0003c0003 | a0002c0024t0001a0003c0003t0001 | a0002c0024t0001g0128 a0003c0003t0001g0023 a0003c0003t0001g0039 |
3 | 163 | 0.0184 | -32 | c.*26 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2271 | chr12 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650690 | GTGTGTGT others(25): Show |
G | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 170 | 0.0059 | -32 | c.*26 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2275 | chr12 | TogoVar | |||||||
PIK3C3_chr18_41950234_42092830 | 42054126 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0329 a0001c0001t0021g0121 |
2 | 54 | 0.0370 | -32 | c.226 others(51): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PINX1_chr8_10759961_10844875 | 10833582 | GACTGGGG others(25): Show |
G | intron_variant | MODIFIER | NA18977.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0284 |
2 | 350 | 0.0057 | -32 | c.130 others(47): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
PINX1_chr8_10759961_10844875 | 10833614 | AACTGGGG others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02027.hp1 HG02129.hp1 others(14): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0228 others(14): Show |
17 | 344 | 0.0494 | -32 | c.130 others(47): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68880560 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01069.hp2 others(37): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 others(37): Show |
40 | 218 | 0.1835 | -32 | c.318 others(49): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3677992 | TGGAGGGA others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0004a0003c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(11): Show | a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0043 others(43): Show |
47 | 330 | 0.1424 | -32 | c.95- others(49): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31652115 | TTCGTGGA others(25): Show |
T | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 326 | 0.0031 | -32 | c.66- others(47): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 1/7 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67408673 | TCTTTCTT others(25): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 130 | 0.0077 | -32 | c.48+ others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425193 | GCACGCAC others(25): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004 | 1 | 180 | 0.0056 | -32 | c.48+ others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425197 | GCACACGC others(25): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0002g0003 |
2 | 125 | 0.0160 | -32 | c.48+ others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6561297 | CCCTTCTT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0033 | 1 | 212 | 0.0047 | -32 | c.-49 others(43): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4743 | chr17 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22351436 | CATACATA others(25): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0009 | a0004c0004t0009g0174 a0004c0004t0009g0176 a0004c0004t0009g0177 others(1): Show |
4 | 154 | 0.0260 | -32 | c.240 others(51): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47864576 | TTTTCTTT others(25): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02630.hp1 HG03225.hp2 others(2): Show |
a0001a0038a0053others(1): Show | a0001c0139a0038c0045a0053c0152others(1): Show | a0001c0139t0001a0038c0045t0002a0053c0152t0001others(1): Show | a0001c0139t0001g0300 a0038c0045t0002g0230 a0038c0045t0002g0231 others(2): Show |
5 | 75 | 0.0667 | -32 | c.414 others(49): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47864605 | TTTCTTTC others(25): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0050 | a0050c0090 | a0050c0090t0001 | a0050c0090t0001g0126 | 1 | 303 | 0.0033 | -32 | c.414 others(49): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945297 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0028a0001c0064others(2): Show | a0001c0001t0001a0001c0028t0001a0001c0064t0001others(2): Show | a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0209 others(9): Show |
12 | 302 | 0.0397 | -32 | c.371 others(51): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314958 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0278 | 1 | 299 | 0.0033 | -32 | c.349 others(51): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 167 | 0.0060 | -32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321730 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 300 | 0.0033 | -32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321734 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0259 | 1 | 297 | 0.0034 | -32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321742 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG04204.hp1 NA19010.hp2 |
a0001a0011a0013 | a0001c0001a0011c0012a0013c0032 | a0001c0001t0001a0011c0012t0001a0013c0032t0001 | a0001c0001t0001g0184 a0011c0012t0001g0004 a0013c0032t0001g0292 |
3 | 289 | 0.0104 | -32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51989927 | GGAAGGAA others(25): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 129 | 0.0078 | -32 | c.575 others(53): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52014694 | CTGGATAG others(25): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0054 | 1 | 104 | 0.0096 | -32 | c.560 others(51): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78600280 | ATTGTGAG others(25): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 184 | 0.0054 | -32 | c.152 others(49): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKLR_chr1_155284293_155306438 | 155299020 | TTCTTTCT others(25): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 284 | 0.0035 | -32 | c.283 others(49): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKMYT1_chr16_2967808_2985446 | 2981117 | CGGTTCTC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -32 | c.-11 others(43): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 672 | chr16 | TogoVar |