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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTOG_chr11_17542259_17651044 | 17613178 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00733.hp1 others(20): Show |
a0002a0004a0010others(15): Show | a0002c0007a0002c0067a0004c0052others(16): Show | a0002c0007t0001a0002c0067t0001a0004c0052t0001others(16): Show | a0002c0007t0001g0167 a0002c0007t0001g0242 a0002c0067t0001g0078 others(20): Show |
23 | 262 | 0.0878 | -17 | c.643 others(34): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OTUD3_chr1_19877395_19917945 | 19880334 | AGTGTTGG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0010a0001c0001t0015a0001c0001t0018others(16): Show | a0001c0001t0010g0022 a0001c0001t0010g0045 a0001c0001t0010g0055 others(31): Show |
58 | 372 | 0.1559 | -17 | c.-21 others(28): Show |
OTUD3 | ENSG00000169914.6 | transcript | ENST00000375120.4 | protein_coding | 2060 | chr1 | TogoVar | |||||||
OTUD5_chrX_48917024_48962607 | 48941432 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 |
3 | 16 | 0.1875 | -17 | c.688 others(34): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510886 | TGTATATC others(10): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0016 | 1 | 243 | 0.0041 | -17 | c.894 others(34): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510995 | TATGTATA others(10): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0012 | a0001c0012t0011 | a0001c0012t0011g0092 a0001c0012t0011g0093 |
2 | 229 | 0.0087 | -17 | c.894 others(34): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31659064 | TAAATAAA others(10): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03195.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0090a0001c0002t0031a0001c0002t0096others(1): Show | a0001c0001t0090g0019 a0001c0002t0031g0228 a0001c0002t0096g0229 others(1): Show |
4 | 244 | 0.0164 | -17 | c.-99 others(34): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31689900 | AGGGAACC others(10): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0148 | 1 | 244 | 0.0041 | -17 | c.-99 others(36): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31753685 | AGATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00741.hp2 others(52): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0030 a0001c0001t0001g0128 a0001c0001t0002g0203 others(52): Show |
55 | 242 | 0.2273 | -17 | c.-99 others(36): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31874391 | ACTGGTTG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0008 | a0002c0008t0009 | a0002c0008t0009g0084 | 1 | 244 | 0.0041 | -17 | c.-40 others(28): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3719 | chr15 | TogoVar | |||||||
OTULIN_chr5_14659718_14704850 | 14703324 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0105 | 1 | 19 | 0.0526 | -17 | c.*10 others(30): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 3475 | chr5 | TogoVar | |||||||
OVCA2_chr17_2037022_2048425 | 2038147 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 75 | 0.0133 | -17 | c.-39 others(28): Show |
OVCA2 | ENSG00000262664.3 | transcript | ENST00000572195.3 | protein_coding | 3874 | chr17 | TogoVar | |||||||
OXA1L_chr14_22761688_22778042 | 22772503 | AAAAAAAA others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG03195.hp1 HG03540.hp1 |
a0005a0007 | a0005c0005a0007c0009 | a0005c0005t0242a0005c0005t0244a0007c0009t0249 | a0005c0005t0242g0008 a0005c0005t0244g0008 a0007c0009t0249g0008 |
3 | 467 | 0.0064 | -17 | c.*94 others(26): Show |
OXA1L | ENSG00000155463.14 | transcript | ENST00000612549.6 | protein_coding | 10/10 | 947 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
OXR1_chr8_106265190_106757694 | 106288695 | TTATATAT others(10): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01257.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(23): Show |
26 | 170 | 0.1529 | -17 | c.-13 others(38): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106339510 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(13): Show |
16 | 167 | 0.0958 | -17 | c.-13 others(38): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106339520 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | 142 | 0.0141 | -17 | c.-13 others(38): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18980.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0003g0081 |
2 | 44 | 0.0455 | -17 | c.183 others(34): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXTR_chr3_8745381_8774613 | 8745478 | AAGCGGGT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG01517.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0045a0001c0001t0049a0001c0004t0019others(1): Show | a0001c0001t0045g0114 a0001c0001t0049g0147 a0001c0004t0019g0060 others(1): Show |
5 | 472 | 0.0106 | -17 | c.*74 others(28): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 4902 | chr3 | TogoVar | |||||||
P2RX4_chr12_121205129_121239106 | 121212374 | TCAAGACC others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(145): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(7): Show | a0001c0003t0001g0015 a0001c0003t0001g0035 a0001c0003t0001g0036 others(104): Show |
148 | 386 | 0.3834 | -17 | c.134 others(34): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX4_chr12_121205129_121239106 | 121219847 | GATAGATA others(10): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 386 | 0.0026 | -17 | c.283 others(34): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3674298 | AAAGCGAG others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 360 | 0.0028 | -17 | c.126 others(34): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 11/11 | chr17 | TogoVar | |||||||
P2RY10_chrX_78940391_78968727 | 78965405 | TTCTTTCT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp2 HG01891.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0005a0004c0005t0001 | a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0058 others(5): Show |
11 | 320 | 0.0344 | -17 | c.*38 others(28): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1679 | chrX | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151343746 | GTGGCTTA others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00609.hp1 others(142): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0267 a0001c0001t0003g0010 a0001c0001t0003g0011 others(111): Show |
145 | 394 | 0.3680 | -17 | c.-17 others(36): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1469074 | CCCTTCCC others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01175.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0030a0002c0002t0004others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0036 others(10): Show |
13 | 109 | 0.1193 | -17 | c.-24 others(34): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1515798 | AGGAGGTG others(10): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 113 | 0.0088 | -17 | c.-25 others(36): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041090 | TCTATATA others(10): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0228 a0001c0001t0004g0297 others(2): Show |
5 | 302 | 0.0166 | -17 | c.481 others(36): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73006205 | TAAAAAAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 80 | 0.0125 | -17 | c.*20 others(28): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1011 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037555 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0006g0106 others(1): Show |
4 | 228 | 0.0175 | -17 | c.114 others(36): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73059423 | TTAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 others(11): Show |
14 | 158 | 0.0886 | -17 | c.464 others(34): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093870 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0039 |
2 | 206 | 0.0097 | -17 | c.-33 others(34): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093872 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 204 | 0.0049 | -17 | c.-33 others(34): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093874 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0091 | 1 | 224 | 0.0045 | -17 | c.-33 others(34): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PA2G4_chr12_56099559_56118910 | 56116148 | AAAAAGAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0029 others(2): Show |
5 | 349 | 0.0143 | -17 | c.*32 others(28): Show |
PA2G4 | ENSG00000170515.14 | transcript | ENST00000303305.11 | protein_coding | 2239 | chr12 | TogoVar | |||||||
PABPC3_chr13_25091136_25104254 | 25100237 | GTTTGCAC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 456 | 0.0022 | -17 | c.*21 others(28): Show |
PABPC3 | ENSG00000151846.9 | transcript | ENST00000281589.5 | protein_coding | 984 | chr13 | TogoVar | |||||||
PABPN1_chr14_23316457_23331163 | 23328990 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18962.hp2 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0001 a0001c0002t0019g0001 |
2 | 124 | 0.0161 | -17 | c.*37 others(28): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 2828 | chr14 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269914 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG01346.hp1 NA18971.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0014g0109 |
3 | 126 | 0.0238 | -17 | c.614 others(36): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66156236 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 319 | 0.0031 | -17 | c.357 others(36): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | chr11 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66156238 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 320 | 0.0031 | -17 | c.357 others(36): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACSIN3_chr11_47172522_47191434 | 47174367 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01070.hp2 others(24): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show |
27 | 28 | 0.9643 | -17 | c.*35 others(28): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3154 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172381 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0078 | a0001c0001t0007g0211 a0001c0001t0078g0205 |
2 | 424 | 0.0047 | -17 | c.*46 others(28): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1337 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172387 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0058 | a0001c0001t0031g0137 a0001c0001t0031g0140 a0001c0001t0058g0138 |
3 | 430 | 0.0070 | -17 | c.*46 others(28): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1343 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172394 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 427 | 0.0023 | -17 | c.*46 others(28): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1350 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172402 | ATATTTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 403 | 0.0025 | -17 | c.*47 others(28): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1358 | chr11 | TogoVar | |||||||
PAGR1_chr16_29811152_29827489 | 29815724 | TAAAAAAA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 85 | 0.0118 | -17 | c.-80 others(26): Show |
PAGR1 | ENSG00000280789.2 | transcript | ENST00000320330.8 | protein_coding | 427 | chr16 | TogoVar | |||||||
PAICS_chr4_56431260_56469578 | 56438385 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 378 | 0.0026 | -17 | c.16+ others(32): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
PAICS_chr4_56431260_56469578 | 56467806 | GGCGCGCG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 2 | 378 | 0.0053 | -17 | c.*82 others(28): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 3229 | chr4 | TogoVar | |||||||
PAIP2_chr5_139336854_139374717 | 139338723 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0226 | 1 | 120 | 0.0083 | -17 | c.-32 others(28): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 3130 | chr5 | TogoVar | |||||||
PAK1IP1_chr6_10689972_10714782 | 10705537 | CTGCAGGA others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03139.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0053 |
5 | 254 | 0.0197 | -17 | c.740 others(32): Show |
PAK1IP1 | ENSG00000111845.5 | transcript | ENST00000379568.4 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429056 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02074.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 others(2): Show |
5 | 120 | 0.0417 | -17 | c.-21 others(36): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429078 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03130.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0003g0243 others(3): Show |
6 | 300 | 0.0200 | -17 | c.-21 others(36): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196826523 | TTTTTTTA others(10): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 176 | 0.0057 | -17 | c.135 others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |